Movement disorder

Summary

Movement disorder (MONDO:0005395) is a disease (an umbrella term covering 54 Mondo subtypes) caused by GNAO1 (GenCC Definitive), with 18 cohort genes (32 GWAS associations across 13 studies) and 184 clinical trials. Top therapeutic interventions include levodopa, buspirone, and haloperidol.

At a glance

• Causal gene: GNAO1 (GenCC Definitive)
• Umbrella term: 54 Mondo subtypes
• Cohort genes: 18
• GWAS associations: 32
• ClinVar variants: 24
• Clinical trials: 184

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	movement disorder
Mondo ID	MONDO:0005395
EFO	EFO:0004280
MeSH	D009069
DOID	DOID:480
NCIT	C116757
SNOMED CT	60342002
UMLS	C0026650
MedGen	10113
Is cancer (heuristic)	no

Also known as: movement disease · movement disorder · movement disorders

Data availability: 24 ClinVar variants · 32 GWAS associations (13 studies) · 4 GenCC gene-disease records.

Disease family

An umbrella term covering 54 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › movement disorder

Related subtypes (71): congenital nervous system disorder, central nervous system disorder, autoimmune disorder of the nervous system, cranial nerve neuropathy, peripheral nervous system disorder, neuronitis, diplegia of upper limb, retinal disorder, developmental disability, restless legs syndrome, toxic encephalopathy, Barre-Lieou syndrome, Gerstmann syndrome, drug-induced akathisia, drug-induced dyskinesia, stiff-person syndrome, Worster-Drought syndrome, corneal-cerebellar syndrome, pachygyria-intellectual disability-epilepsy syndrome, porencephaly-cerebellar hypoplasia-internal malformations syndrome, symmetrical thalamic calcifications, neonatal brainstem dysfunction, primary orthostatic hypotension, rippling muscle disease with myasthenia gravis, periodic paralysis, qualitative or quantitative protein defects in neuromuscular diseases, specific learning disability, cerebellar hypoplasia-tapetoretinal degeneration syndrome, locked-in syndrome, dopa-responsive dystonia, idiopathic recurrent stupor, chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, spontaneous periodic hypothermia, Sydenham chorea, duplication of the pituitary gland, Balint syndrome, paraneoplastic neurologic syndrome, persistent idiopathic facial pain, serotonin syndrome, hypothalamic adipsic hypernatraemia syndrome, exercise-induced malignant hyperthermia, perineural cyst, neuromuscular disease, neuromyelitis optica, AL amyloidosis, AA amyloidosis, neuroleptic malignant syndrome, infectious disorder of the nervous system, central nervous system malformation, synaptopathy, nervous system neoplasm, sensory ganglionopathy, radiculitis, wet beriberi, perceptual disorders, prepubertal anorexia nervosa, neurocutaneous syndrome, neurovascular disorder, Wallerian degeneration, nervous system injury, neurosarcoidosis, neuroendocrine disorder, tubulinopathy, atactic disorder, hereditary neurological disease, meningitis-retention syndrome, KIF1A related neurological disorder, neurological pain disorder, neurodevelopmental disorder, post 5-alpha-reductase inhibitors treatment syndrome, post-selective serotonin reuptake inhibitor sexual dysfunction

Subtypes (54): cerebellar ataxia, chronic tic disorder, choreatic disease, extrapyramidal and movement disease, benign shuddering attacks, transient tic disorder, essential tremor, lingual-facial-buccal dyskinesia, kuru, inherited Creutzfeldt-Jakob disease, Tourette syndrome, clonic hemifacial spasm, Huntington disease, multiple system atrophy, spinal muscular atrophy-progressive myoclonic epilepsy syndrome, benign paroxysmal tonic upgaze of childhood with ataxia, hereditary geniospasm, tremor-nystagmus-duodenal ulcer syndrome, arthrogryposis, Lafora disease, Unverricht-Lundborg syndrome, neuronal intranuclear inclusion disease, Huntington disease-like 3, brain-lung-thyroid syndrome, myoclonus, familial, proximal myopathy with extrapyramidal signs, progressive myoclonic epilepsy type 7, progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome, progressive non-fluent aphasia, opsoclonus-myoclonus syndrome, isolated facial myokymia, primary orthostatic tremor, familial congenital mirror movements, neuroacanthocytosis, behavioral variant of frontotemporal dementia, frontotemporal dementia with motor neuron disease, hyperekplexia, intellectual disability-hyperkinetic movement-truncal ataxia syndrome, neurodegeneration with brain iron accumulation, Huntington disease-like syndrome due to C9ORF72 expansions, variably protease-sensitive prionopathy, corticobasal syndrome, sensorineural hearing loss-early graying-essential tremor syndrome, progressive supranuclear palsy, Sandifer syndrome, psychogenic movement disorders, epilepsy with myoclonic absences, infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, childhood-onset benign chorea with striatal involvement, childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, PRRT2-associated paroxysmal movement disorder, SLC6A3-related dopamine transporter deficiency syndrome, dyskinesia with orofacial involvement, autosomal dominant, complex movement disorder with or without neurodevelopmental features

Genetics & variants

GWAS landscape

32 GWAS associations across 13 studies. Top hits map to 9 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs113851554	1e-200	MEIS1	G	0.63
chr6:38438771	3e-87		T	0.22
rs6920488	2e-80	BTBD9	A	0.21
chr20:62795405	1e-31		A	0.13
rs10116689	9e-28	PTPRD	C	0.11
rs3112621	1e-26	CASC16	A	0.1
chr16:52642377	2e-26		A	0.11
rs560776	1e-25	MYT1	T	0.12
rs7048788	3e-25	PTPRD	C	0.1
chr1:107199284	2e-24		C	0.1
chr2:159292522	2e-24		C	0.12
rs9677434	1e-22	CCDC148	A	0.12
rs4776967	2e-22	MAP2K5	T	0.1
chr2:68071204	2e-22		G	0.1
rs6747972	1e-21	LINC01812 - FBXL12P1	A	0.09
rs12022398	4e-20	LINC01677 - MTATP6P14	C	0.09
rs1468123	8e-19	EEF1A1P28 - COX6A1P7	T	0.11
chr7:88368906	4e-18		A	0.12
chr2:4043620	6e-16		T	0.08
rs903235	8e-15	LINC01304 - NPM1P48	T	0.08
rs77614227	9e-15	DPH6-DT - LINC02853	T	0.16
rs996064	4e-14	DPH6-DT - LINC02853	A	0.16
chr2:124932091	7e-14		A	0.1
rs7102266	3e-13	LMO1 - STK33	C	0.08
chr4:38932096	8e-13		T	0.07
chr17:46715759	6e-12		T	0.07
rs11689747	2e-11	CNTNAP5	G	0.08
rs146922515	4e-08	C10orf67-AS1 - OTUD1	CA	1.8
rs6977820	5e-06	DPP6	?	2.32

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475827	Verma A	2024	21,024	414,231	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477502	Verma A	2024	2,613	115,714	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480004	Verma A	2024	2,613	115,714	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477501	Verma A	2024	2,129	55,494	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90079818	Backman JD	2021	1,721	384,069	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083804	Backman JD	2021	1,721	384,069	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90726786	Kim HI	2026	375	43,651	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST000831	Greenbaum L	2010	88	0	Evidence for association of the GLI2 gene with tardive dyskinesia in patients with chronic schizophrenia.
GCST001196	Tanaka S	2011	61	0	DPP6 as a candidate gene for neuroleptic-induced tardive dyskinesia.
GCST90449147	Nogawa S	2023	0	0	A web-based genome-wide association study reveals the susceptibility loci of common adverse events following COVID-19 vaccination in the Japanese population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	29

MAF distribution

Bucket	Variants
common (>=0.05)	28
low_freq (0.01-0.05)	1
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	12
unknown	11
intergenic_variant	6

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs113851554	2	66523432	G>A,T	0.051	intron_variant	MEIS1	1e-200	Tier 4: intronic/intergenic
chr6:38438771				0.296			3e-87	Tier 4: intronic/intergenic
rs6920488	6	38476264	A>G,T	0.265	intron_variant	BTBD9	2e-80	Tier 4: intronic/intergenic
chr20:62795405				0.265			1e-31	Tier 4: intronic/intergenic
rs10116689	9	8826788	C>T	0.494	intron_variant	PTPRD	9e-28	Tier 4: intronic/intergenic
rs3112621	16	52596437	A>C,G,T	0.441	intron_variant	CASC16	1e-26	Tier 4: intronic/intergenic
chr16:52642377				0.419			2e-26	Tier 4: intronic/intergenic
rs560776	20	64157974	T>C	0.245	intron_variant	MYT1	1e-25	Tier 4: intronic/intergenic
rs7048788	9	8832169	C>A,T	0.442	intron_variant	PTPRD	3e-25	Tier 4: intronic/intergenic
chr1:107199284				0.402			2e-24	Tier 4: intronic/intergenic
chr2:159292522				0.244			2e-24	Tier 4: intronic/intergenic
rs9677434	2	158352467	A>G,T	0.195	intron_variant	CCDC148	1e-22	Tier 4: intronic/intergenic
rs4776967	15	67741584	T>A,C	0.332	intron_variant	MAP2K5	2e-22	Tier 4: intronic/intergenic
chr2:68071204				0.45			2e-22	Tier 4: intronic/intergenic
rs6747972	2	67843093	A>C,G	0.374	intergenic_variant	LINC01812 - FBXL12P1	1e-21	Tier 4: intronic/intergenic
rs12022398	1	106641848	C>A,G,T	0.347	intron_variant	LINC01677 - MTATP6P14	4e-20	Tier 4: intronic/intergenic
rs1468123	7	88739852	T>G	0.204	intron_variant	EEF1A1P28 - COX6A1P7	8e-19	Tier 4: intronic/intergenic
chr7:88368906				0.139			4e-18	Tier 4: intronic/intergenic
chr2:4043620				0.398			6e-16	Tier 4: intronic/intergenic
rs903235	2	3981166	T>C	0.432	intergenic_variant	LINC01304 - NPM1P48	8e-15	Tier 4: intronic/intergenic
rs77614227	15	35889353	T>G	0.046	intergenic_variant	DPH6-DT - LINC02853	9e-15	Tier 4: intronic/intergenic
rs996064	15	35916797	A>G,T	0.054	intergenic_variant	DPH6-DT - LINC02853	4e-14	Tier 4: intronic/intergenic
chr2:124932091				0.216			7e-14	Tier 4: intronic/intergenic
rs7102266	11	8313294	C>A	0.472	intergenic_variant	LMO1 - STK33	3e-13	Tier 4: intronic/intergenic
chr4:38932096				0.479			8e-13	Tier 4: intronic/intergenic
chr17:46715759				0.342			6e-12	Tier 4: intronic/intergenic
rs11689747	2	124171252	G>C,T	0.235	intron_variant	CNTNAP5	2e-11	Tier 4: intronic/intergenic
rs146922515	10	23369893	CAAA>C,CA,CAA,CAAAA,CAAAAA,CAAAAAA,CAAAAAAA,CAAAAAAAA	0.419	intergenic_variant	C10orf67-AS1 - OTUD1	4e-08	Tier 4: intronic/intergenic
rs6977820	7	154374935	T>A,C	0.05	intron_variant	DPP6	5e-06	Tier 4: intronic/intergenic

ClinVar germline variants

24 retrieved; paginated sample, class counts are floors:

8 likely pathogenic, 5 uncertain significance, 4 conflicting classifications of pathogenicity, 3 pathogenic, 2 pathogenic/likely pathogenic, 1 likely benign, 1 conflicting classifications of pathogenicity; risk factor

ClinVar	Variant (HGVS)	Gene	Classification	Review
625207	NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)	BCS1L	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
4530566	NM_001438.4(ESRRG):c.550C>T (p.Arg184Cys)	ESRRG	Pathogenic	criteria provided, single submitter
265350	NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)	GNAO1	Pathogenic	criteria provided, multiple submitters, no conflicts
445922	NM_007055.4(POLR3A):c.1909+22G>A	POLR3A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
996741	NM_012233.3(RAB3GAP1):c.151-5T>G	RAB3GAP1	Pathogenic	no assertion criteria provided
4530564	NM_001438.4(ESRRG):c.446A>G (p.Lys149Arg)	ESRRG	Likely pathogenic	criteria provided, single submitter
4530565	NM_001438.4(ESRRG):c.539G>A (p.Cys180Tyr)	ESRRG	Likely pathogenic	criteria provided, single submitter
4530567	NM_001438.4(ESRRG):c.1346T>G (p.Leu449Arg)	ESRRG	Likely pathogenic	criteria provided, single submitter
4530568	NM_001438.4(ESRRG):c.1352dup (p.Leu451fs)	ESRRG	Likely pathogenic	criteria provided, single submitter
2687758	NM_020988.3(GNAO1):c.616C>G (p.Arg206Gly)	GNAO1	Likely pathogenic	criteria provided, single submitter
812987	NM_001040142.2(SCN2A):c.1270G>T (p.Val424Leu)	SCN2A	Likely pathogenic	no assertion criteria provided
812998	NM_001199107.2(TBC1D24):c.901C>T (p.Gln301Ter)	TBC1D24	Likely pathogenic	no assertion criteria provided
381536	NM_006009.4(TUBA1A):c.455T>A (p.Leu152Gln)	TUBA1A	Likely pathogenic	criteria provided, multiple submitters, no conflicts
625208	NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)	BCS1L	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
847690	NM_003919.3(SGCE):c.788G>A (p.Arg263His)	CASD1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
974617	NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys)	CLCN6	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
4530563	NM_001438.4(ESRRG):c.410G>A (p.Gly137Glu)	ESRRG	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
4288	NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	GBA1	Conflicting classifications of pathogenicity; risk factor	criteria provided, conflicting classifications
267836	46;XY;t(1;6)(q23;q13)dn		Uncertain significance	criteria provided, single submitter
523421	NM_001378452.1(ITPR1):c.2477C>T (p.Ser826Phe)	ITPR1	Uncertain significance	criteria provided, single submitter
1710147	NM_001303512.2(PDZD4):c.10_16del (p.Asn4fs)	PDZD4	Uncertain significance	no assertion criteria provided
1467419	NM_020708.5(SLC12A5):c.355C>T (p.Arg119Trp)	SLC12A5	Uncertain significance	criteria provided, multiple submitters, no conflicts
207501	NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu)	TBC1D24	Uncertain significance	criteria provided, multiple submitters, no conflicts
3338131	NM_000153.4(GALC):c.1161+3946G>A	GALC	Likely benign	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 13 · Orphanet: 50 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
GNAO1	Definitive	Autosomal dominant	movement disorder	10
RIC3	Limited	Autosomal recessive	movement disorder	2
TLE1	Limited	Autosomal recessive	movement disorder

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
GNAO1	Orphanet:1934	Early infantile developmental and epileptic encephalopathy
GNAO1	Orphanet:592564	GNAO1-related developmental delay-seizures-movement disorder spectrum
BCS1L	Orphanet:123	Björnstad syndrome
BCS1L	Orphanet:1460	Isolated complex III deficiency
BCS1L	Orphanet:254902	Renal tubulopathy-encephalopathy-liver failure syndrome
BCS1L	Orphanet:53693	GRACILE syndrome
SCN2A	Orphanet:140927	Self-limited neonatal-infantile epilepsy
SCN2A	Orphanet:1934	Early infantile developmental and epileptic encephalopathy
SCN2A	Orphanet:2131	Alternating hemiplegia of childhood
SCN2A	Orphanet:293181	Epilepsy of infancy with migrating focal seizures
SCN2A	Orphanet:306	Self-limited infantile epilepsy
SCN2A	Orphanet:33069	Dravet syndrome
SCN2A	Orphanet:36387	Genetic epilepsy with febrile seizure plus
SCN2A	Orphanet:697160	Infantile epileptic spasms syndrome
SLC12A5	Orphanet:293181	Epilepsy of infancy with migrating focal seizures
RAB3GAP1	Orphanet:1387	Cataract-intellectual disability-hypogonadism syndrome
RAB3GAP1	Orphanet:2510	Micro syndrome
CLCN6	Orphanet:610573	CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
TUBA1A	Orphanet:171680	Lissencephaly due to TUBA1A mutation
TUBA1A	Orphanet:45358	Congenital fibrosis of extraocular muscles
TUBA1A	Orphanet:467166	Tubulinopathy-associated dysgyria
TUBA1A	Orphanet:994	Fetal akinesia deformation sequence
TBC1D24	Orphanet:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer’s cramp syndrome
TBC1D24	Orphanet:293181	Epilepsy of infancy with migrating focal seizures
TBC1D24	Orphanet:352582	Familial infantile myoclonic epilepsy
TBC1D24	Orphanet:352587	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
TBC1D24	Orphanet:352596	Progressive myoclonic epilepsy with dystonia
TBC1D24	Orphanet:79500	DOORS syndrome
TBC1D24	Orphanet:90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
TBC1D24	Orphanet:90636	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
POLR3A	Orphanet:137639	Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
POLR3A	Orphanet:3455	Wiedemann-Rautenstrauch syndrome
POLR3A	Orphanet:447893	Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
POLR3A	Orphanet:447896	Tremor-ataxia-central hypomyelination syndrome
POLR3A	Orphanet:77295	Odontoleukodystrophy
POLR3A	Orphanet:88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
DPP6	Orphanet:228140	Idiopathic ventricular fibrillation
DPP6	Orphanet:2514	Autosomal dominant primary microcephaly
GALC	Orphanet:206436	Infantile Krabbe disease
GALC	Orphanet:206443	Late-infantile/juvenile Krabbe disease
GALC	Orphanet:206448	Adult Krabbe disease
GBA1	Orphanet:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
GBA1	Orphanet:411602	Hereditary late-onset Parkinson disease
GBA1	Orphanet:77259	Gaucher disease type 1
GBA1	Orphanet:77260	Gaucher disease type 2
GBA1	Orphanet:77261	Gaucher disease type 3
GBA1	Orphanet:85212	Fetal Gaucher disease
ITPR1	Orphanet:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome
ITPR1	Orphanet:208513	Spinocerebellar ataxia type 29
ITPR1	Orphanet:98769	Spinocerebellar ataxia type 15/16

Cohort genes → proteins

18 cohort genes, 18 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	1
multi_evidence	17

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
GNAO1	HGNC:4389	ENSG00000087258	P09471	Guanine nucleotide-binding protein G(o) subunit alpha	gencc,clinvar
TLE1	HGNC:11837	ENSG00000196781	Q04724	Transducin-like enhancer protein 1	gencc
RIC3	HGNC:30338	ENSG00000166405	Q7Z5B4	Protein RIC-3	gencc
BCS1L	HGNC:1020	ENSG00000074582	Q9Y276	Mitochondrial chaperone BCS1	clinvar
SCN2A	HGNC:10588	ENSG00000136531	Q99250	Sodium channel protein type 2 subunit alpha	clinvar
SLC12A5	HGNC:13818	ENSG00000124140	Q9H2X9	Solute carrier family 12 member 5	clinvar
CASD1	HGNC:16014	ENSG00000127995	Q96PB1	N-acetylneuraminate (7)9-O-acetyltransferase	clinvar
RAB3GAP1	HGNC:17063	ENSG00000115839	Q15042	Rab3 GTPase-activating protein catalytic subunit	clinvar
CLCN6	HGNC:2024	ENSG00000011021	P51797	H(+)/Cl(-) exchange transporter 6	clinvar
TUBA1A	HGNC:20766	ENSG00000167552	Q71U36	Tubulin alpha-1A chain	clinvar
PDZD4	HGNC:21167	ENSG00000067840	Q76G19	PDZ domain-containing protein 4	clinvar
TBC1D24	HGNC:29203	ENSG00000162065	Q9ULP9	TBC1 domain family member 24	clinvar
POLR3A	HGNC:30074	ENSG00000148606	O14802	DNA-directed RNA polymerase III subunit RPC1	clinvar
DPP6	HGNC:3010	ENSG00000130226	P42658	A-type potassium channel modulatory protein DPP6	gwas
ESRRG	HGNC:3474	ENSG00000196482	P62508	Estrogen-related receptor gamma	clinvar
GALC	HGNC:4115	ENSG00000054983	P54803	Galactocerebrosidase	clinvar
GBA1	HGNC:4177	ENSG00000177628	P04062	Lysosomal acid glucosylceramidase	clinvar
ITPR1	HGNC:6180	ENSG00000150995	Q14643	Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
GNAO1	Guanine nucleotide-binding protein G(o) subunit alpha	Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades.
TLE1	Transducin-like enhancer protein 1	Transcriptional corepressor that binds to a number of transcription factors.
RIC3	Protein RIC-3	Molecular chaperone which facilitates proper subunit assembly and surface trafficking of alpha-7 (CHRNA7) and alpha-8 (CHRNA8) nicotinic acetylcholine receptors.
BCS1L	Mitochondrial chaperone BCS1	Chaperone necessary for the incorporation of Rieske iron-sulfur protein UQCRFS1 into the mitochondrial respiratory chain complex III.
SCN2A	Sodium channel protein type 2 subunit alpha	Mediates the voltage-dependent sodium ion permeability of excitable membranes.
SLC12A5	Solute carrier family 12 member 5	Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis.
CASD1	N-acetylneuraminate (7)9-O-acetyltransferase	Key enzyme in the biosynthesis of O-acetylated (O-Ac) sialoglycans such as gangliosides O-AcGD3 and O-AcGD2, which affect various processes such as cell-cell interactions, host-pathogen recognition.
RAB3GAP1	Rab3 GTPase-activating protein catalytic subunit	Catalytic subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which accelerates the otherwise slow GTP hydrolysis catalyzed by Rab proteins.
CLCN6	H(+)/Cl(-) exchange transporter 6	Voltage-gated channel mediating the exchange of chloride ions against protons.
TUBA1A	Tubulin alpha-1A chain	Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers.
TBC1D24	TBC1 domain family member 24	May act as a GTPase-activating protein for Rab family protein(s).
POLR3A	DNA-directed RNA polymerase III subunit RPC1	Catalytic core component of RNA polymerase III (Pol III), a DNA-dependent RNA polymerase which synthesizes small non-coding RNAs using the four ribonucleoside triphosphates as substrates.
DPP6	A-type potassium channel modulatory protein DPP6	Promotes cell surface expression of the potassium channel KCND2.
ESRRG	Estrogen-related receptor gamma	Orphan receptor that acts as a transcription activator in the absence of bound ligand.
GALC	Galactocerebrosidase	Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine.
GBA1	Lysosomal acid glucosylceramidase	Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine) into free ceramides (such as N-acylsphing-4-enine) and glucose.
ITPR1	Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1	Inositol 1,4,5-trisphosphate-gated calcium channel that, upon inositol 1,4,5-trisphosphate binding, mediates calcium release from the endoplasmic reticulum (ER).

Protein-family classification

Druggable: 7 · Difficult: 2 · Unknown: 9 · Druggable fraction: 0.39

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Ion channel	2	12.4×	0.067
Nuclear receptor	1	21.4×	0.137
Enzyme (other)	3	2.0×	0.371
Scaffold/PPI	2	1.9×	0.420
Protease	1	2.0×	0.471
Other/Unknown	9	0.9×	0.770

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
GNAO1	Other/Unknown	no		Gprotein_alpha_su, Gprotein_alpha_I, GproteinA_insert
TLE1	Scaffold/PPI	no		WD40_rpt, Groucho/TLE_N, Groucho_enhance
RIC3	Other/Unknown	no		Ric3, RIC3_N
BCS1L	Other/Unknown	no		AAA+_ATPase, ATPase_AAA_core, ATPase_AAA_CS
SCN2A	Ion channel	yes		IQ_motif_EF-hand-BS, Na_channel_asu, Ion_trans_dom
SLC12A5	Other/Unknown	no		KCL_cotranspt, AA-permease/SLC12A_dom, SLC12A_fam
CASD1	Enzyme (other)	yes	2.3.1.45	Cas1_AcylTrans_dom, Cyclin-like_sf, NXPE4_C
RAB3GAP1	Other/Unknown	no		Rab3GAP1_conserved, Rab3GAP1_C, Rab3GAP1
CLCN6	Other/Unknown	no		CBS_dom, ClC, Cl_channel-6
TUBA1A	Other/Unknown	no		Tubulin, Alpha_tubulin, Tubulin_FtsZ_GTPase
PDZD4	Scaffold/PPI	no		PDZ, PDZ_sf, E3_ubiquitin-PDZ_ligase
TBC1D24	Other/Unknown	no		Rab-GAP-TBC_dom, TLDc_dom, Rab-GAP_TBC_sf
POLR3A	Other/Unknown	no		RNA_pol_asu, RNA_pol_N, RNA_pol_Rpb1_3
DPP6	Protease	yes		Peptidase_S9_cat, Peptidase_S9B_N, AB_hydrolase_fold
ESRRG	Nuclear receptor	yes		Nucl_hrmn_rcpt_lig-bd, Znf_hrmn_rcpt, Nuclear_hrmn_rcpt
GALC	Enzyme (other)	yes	3.2.1.46	Glyco_hydro_59, Aldolase_TIM, GH_hydrolase_sf
GBA1	Enzyme (other)	yes	3.2.1.45	Glyco_hydro_30, GH_hydrolase_sf, GH30_C
ITPR1	Ion channel	yes		InsP3_rcpt, RIH_dom, Ion_trans_dom

Expression context

Cohort genes with no expression data: 0.

17 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	18
unknown	0

Top tissues across cohort

Tissue	Cohort genes
Brodmann (1909) area 23	5
middle temporal gyrus	4
adrenal tissue	3
endothelial cell	3
cortical plate	2
cerebellar cortex	2
cerebellar hemisphere	2
right hemisphere of cerebellum	2
secondary oocyte	2
entorhinal cortex	1
superficial temporal artery	1
sural nerve	1
ventricular zone	1
adenohypophysis	1
left lobe of thyroid gland	1
right lobe of thyroid gland	1
apex of heart	1
body of pancreas	1
metanephros cortex	1
cerebellar vermis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
GNAO1	261	broad	marker	cortical plate, superficial temporal artery, entorhinal cortex
TLE1	293	ubiquitous	marker	ventricular zone, adrenal tissue, sural nerve
RIC3	178	broad	marker	adenohypophysis, left lobe of thyroid gland, right lobe of thyroid gland
BCS1L	279	ubiquitous	marker	body of pancreas, metanephros cortex, apex of heart
SCN2A	187	broad	marker	middle temporal gyrus, Brodmann (1909) area 23, cerebellar vermis
SLC12A5	205	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
CASD1	278	ubiquitous	marker	adrenal tissue, postcentral gyrus, Ammon’s horn
RAB3GAP1	300	ubiquitous	marker	hair follicle, Brodmann (1909) area 23, secondary oocyte
CLCN6	239	ubiquitous	marker	right testis, left testis, right atrium auricular region
TUBA1A	288	ubiquitous	marker	endothelial cell, cortical plate, ganglionic eminence
PDZD4	203	broad	yes	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
TBC1D24	227	ubiquitous	marker	parotid gland, Brodmann (1909) area 23, middle temporal gyrus
POLR3A	242	ubiquitous	marker	buccal mucosa cell, middle temporal gyrus, secondary oocyte
DPP6	221	broad	marker	middle temporal gyrus, Brodmann (1909) area 23, endothelial cell
ESRRG	250	broad	marker	pons, nephron tubule, endothelial cell
GALC	295	ubiquitous	marker	adrenal tissue, bronchial epithelial cell, jejunal mucosa
GBA1	134	ubiquitous	marker	stromal cell of endometrium, islet of Langerhans, placenta
ITPR1	284	ubiquitous	marker	cauda epididymis, Brodmann (1909) area 23, primary visual cortex

Protein interactions among cohort

Intra-cohort edges: 3.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
POLR3A	4,915
BCS1L	3,789
ITPR1	3,483
GNAO1	3,437
SCN2A	2,810
GBA1	2,568
SLC12A5	2,287
DPP6	2,224
TLE1	2,118
RAB3GAP1	2,039

Intra-cohort edges

A	B	Sources
ESRRG	TLE1	string_interaction
GALC	GBA1	string_interaction
SCN2A	TBC1D24	string_interaction

Structural data

PDB: 11 · AlphaFold-only: 7 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
GNAO1	P09471	86
GBA1	P04062	58
ESRRG	P62508	43
POLR3A	O14802	29
TUBA1A	Q71U36	15
DPP6	P42658	8
TLE1	Q04724	6
SCN2A	Q99250	5
CLCN6	P51797	3
SLC12A5	Q9H2X9	2
RAB3GAP1	Q15042	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
GALC	P54803	94.56
CASD1	Q96PB1	87.87
BCS1L	Q9Y276	87.10
TBC1D24	Q9ULP9	84.46
RIC3	Q7Z5B4	58.55
PDZD4	Q76G19	57.41
ITPR1	Q14643

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 175. Enrichment computed across 18 evidence-associated genes (14 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 14 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Cation-coupled Chloride cotransporters	1	116.5×	0.132	SLC12A5
CLEC7A (Dectin-1) induces NFAT activation	1	74.2×	0.132	ITPR1
Nitric oxide stimulates guanylate cyclase	1	58.3×	0.132	ITPR1
Elevation of cytosolic Ca2+ levels	1	51.0×	0.132	ITPR1
Platelet calcium homeostasis	1	51.0×	0.132	ITPR1
cGMP effects	1	51.0×	0.132	ITPR1
Repression of WNT target genes	1	51.0×	0.132	TLE1
RNA Polymerase III Chain Elongation	1	45.3×	0.132	POLR3A
Glycosphingolipid catabolism	2	41.8×	0.132	GALC, GBA1
VEGFR2 mediated cell proliferation	1	40.8×	0.132	ITPR1
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	1	38.8×	0.132	TUBA1A
Transport of connexons to the plasma membrane	1	38.8×	0.132	TUBA1A
RNA Polymerase III Transcription Termination	1	35.5×	0.132	POLR3A
Gap junction trafficking and regulation	1	34.0×	0.132	TUBA1A
Gap junction trafficking	1	34.0×	0.132	TUBA1A
Post-chaperonin tubulin folding pathway	1	34.0×	0.132	TUBA1A
Effects of PIP2 hydrolysis	1	32.6×	0.132	ITPR1
Role of phospholipids in phagocytosis	1	32.6×	0.132	ITPR1
Complex III assembly	1	31.4×	0.132	BCS1L
Formation of tubulin folding intermediates by CCT/TriC	1	30.2×	0.132	TUBA1A
RNA Polymerase III Transcription Initiation From Type 2 Promoter	1	30.2×	0.132	POLR3A
COPI-independent Golgi-to-ER retrograde traffic	2	29.7×	0.132	RAB3GAP1, TUBA1A
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	1	29.1×	0.132	TUBA1A
RNA Polymerase III Transcription Initiation From Type 1 Promoter	1	29.1×	0.132	POLR3A
RNA Polymerase III Transcription Initiation From Type 3 Promoter	1	29.1×	0.132	POLR3A
Prefoldin mediated transfer of substrate to CCT/TriC	1	28.1×	0.132	TUBA1A
Anti-inflammatory response favouring Leishmania parasite infection	1	28.1×	0.132	ITPR1
Leishmania parasite growth and survival	1	28.1×	0.132	ITPR1
Activation of AMPK downstream of NMDARs	1	27.2×	0.132	TUBA1A
Interaction between L1 and Ankyrins	1	26.3×	0.132	SCN2A

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 17 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
pyramidal neuron differentiation	2	396.5×	0.002	TUBA1A, GBA1
neuron apoptotic process	3	32.7×	0.010	SCN2A, TUBA1A, GBA1
cell volume homeostasis	2	70.8×	0.020	SLC12A5, CLCN6
motor behavior	2	66.1×	0.020	TUBA1A, GBA1
positive regulation of neuronal action potential	1	991.3×	0.025	GBA1
galactosylceramide catabolic process	1	495.6×	0.025	GALC
hypotonic response	1	495.6×	0.025	SLC12A5
intrinsic apoptotic signaling pathway in response to osmotic stress	1	495.6×	0.025	SCN2A
cerebellar Purkinje cell layer formation	1	495.6×	0.025	GBA1
thermosensory behavior	1	495.6×	0.025	SLC12A5
positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization	1	495.6×	0.025	RAB3GAP1
beta-glucoside catabolic process	1	495.6×	0.025	GBA1
regulation of calcium ion-dependent exocytosis of neurotransmitter	1	495.6×	0.025	RAB3GAP1
release of sequestered calcium ion into cytosol by endoplasmic reticulum	1	495.6×	0.025	ITPR1
response to mechanical stimulus	2	35.4×	0.025	CLCN6, TUBA1A
myelination	2	29.6×	0.025	SCN2A, GALC
glucosylceramide catabolic process	1	330.4×	0.030	GBA1
termination of signal transduction	1	330.4×	0.030	GBA1
establishment of protein localization to endoplasmic reticulum membrane	1	330.4×	0.030	RAB3GAP1
regulation of lysosomal protein catabolic process	1	330.4×	0.030	GBA1
negative regulation of cellular response to oxidative stress	1	247.8×	0.033	TBC1D24
positive regulation of protein lipidation	1	247.8×	0.033	RAB3GAP1
positive regulation of endoplasmic reticulum tubular network organization	1	247.8×	0.033	RAB3GAP1
memory	2	21.6×	0.033	SCN2A, TUBA1A
protein insertion into mitochondrial inner membrane from matrix	1	198.3×	0.039	BCS1L
autophagosome organization	1	198.3×	0.039	GBA1
response to pH	1	165.2×	0.041	GBA1
cerebellar cortex morphogenesis	1	165.2×	0.041	TUBA1A
voluntary musculoskeletal movement	1	165.2×	0.041	ITPR1
lymphocyte migration	1	141.6×	0.044	GBA1

Therapeutics

Drugs indicated for this disease

1 approved, 6 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Penicillamine	Approved (phase 4)
Levetiracetam	Phase 3 (in late-stage trials)
Piracetam	Phase 3 (in late-stage trials)
Pyridoxine	Phase 3 (in late-stage trials)
Sarizotan	Phase 3 (in late-stage trials)
Tetrabenazine	Phase 3 (in late-stage trials)
Valbenazine	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Carisbamate, Famotidine.

Drug target analysis

Approved (phase 4): 4 · Phase ≥3: 4 · Phased (≥1): 4 · Undrugged: 14

Druggability breadth: 9 of 18 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
SCN2A	BEPRIDIL
TUBA1A	COLCHICINE
ESRRG	DIETHYLSTILBESTROL
GBA1	MIGALASTAT

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SCN2A	99	4
TUBA1A	22	4
GBA1	12	4
ESRRG	2	4
GNAO1	0	0
TLE1	0	0
RIC3	0	0
BCS1L	0	0
SLC12A5	0	0
CASD1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
BEPRIDIL	4	SCN2A
DIBUCAINE	4	SCN2A
ARTICAINE	4	SCN2A
BUPIVACAINE	4	SCN2A
IMIPRAMINE	4	SCN2A
DROPERIDOL	4	SCN2A
DICYCLOMINE	4	SCN2A
TETRABENAZINE	4	SCN2A
PHENIRAMINE	4	SCN2A
PRILOCAINE	4	SCN2A
PROPOXYCAINE	4	SCN2A
PROPARACAINE	4	SCN2A
HEXYLCAINE	4	SCN2A
PRAMOXINE	4	SCN2A
BENOXINATE	4	SCN2A
QUINIDINE	4	SCN2A
FELODIPINE	4	SCN2A
PHENYTOIN	4	SCN2A
QUININE	4	SCN2A
NISOLDIPINE	4	SCN2A
NIFEDIPINE	4	SCN2A
PRAZOSIN	4	SCN2A
DILTIAZEM	4	SCN2A
PRENYLAMINE	4	SCN2A
COCAINE	4	SCN2A
TRIFLUOPERAZINE	4	SCN2A
CINNARIZINE	4	SCN2A
THIORIDAZINE	4	SCN2A
ETIDOCAINE	4	SCN2A
CHLORPHENIRAMINE	4	SCN2A

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 3.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
TUBA1A	1,696	Binding:1655, Functional:35, ADMET:6
GBA1	436	Binding:403, Functional:33
SCN2A	203	Binding:172, Functional:20, ADMET:10, Toxicity:1
ESRRG	135	Binding:121, Functional:13, ADMET:1
ITPR1	13	Binding:12, Functional:1
GNAO1	12	Functional:10, Binding:2
SLC12A5	6	Functional:4, Binding:2
GALC	3	Binding:2, Functional:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
CASD1	2.3.1.45	N-acetylneuraminate 9-O-acetyltransferase
GALC	3.2.1.46	galactosylceramidase
GBA1	3.2.1.45	glucosylceramidase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
SCN2A	203
TUBA1A	1,696
ESRRG	135
GBA1	436

Pharmacogenomics

Cohort genes with a PharmGKB record: 18; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
BEPRIDIL	4	SCN2A
DIBUCAINE	4	SCN2A
ARTICAINE	4	SCN2A
BUPIVACAINE	4	SCN2A
IMIPRAMINE	4	SCN2A
DROPERIDOL	4	SCN2A
DICYCLOMINE	4	SCN2A
TETRABENAZINE	4	SCN2A
PHENIRAMINE	4	SCN2A
PRILOCAINE	4	SCN2A
PROPOXYCAINE	4	SCN2A
PROPARACAINE	4	SCN2A
HEXYLCAINE	4	SCN2A
PRAMOXINE	4	SCN2A
BENOXINATE	4	SCN2A
QUINIDINE	4	SCN2A
FELODIPINE	4	SCN2A
PHENYTOIN	4	SCN2A
QUININE	4	SCN2A
NISOLDIPINE	4	SCN2A
NIFEDIPINE	4	SCN2A
PRAZOSIN	4	SCN2A
DILTIAZEM	4	SCN2A
PRENYLAMINE	4	SCN2A
COCAINE	4	SCN2A
TRIFLUOPERAZINE	4	SCN2A
CINNARIZINE	4	SCN2A
THIORIDAZINE	4	SCN2A
ETIDOCAINE	4	SCN2A
CHLORPHENIRAMINE	4	SCN2A

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	4	SCN2A, TUBA1A, ESRRG, GBA1
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	DPP6
D	Druggable family + AlphaFold only, no drug	3	CASD1, GALC, ITPR1
E	Difficult family or no structure, no drug	10	GNAO1, TLE1, RIC3, BCS1L, SLC12A5, RAB3GAP1, CLCN6, PDZD4, TBC1D24, POLR3A

Undrugged target profiles

14 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
TLE1	0	ESRRG
GNAO1	12	—
RIC3	0	—
BCS1L	0	—
SLC12A5	6	—
CASD1	0	—
RAB3GAP1	0	—
CLCN6	0	—
PDZD4	0	—
TBC1D24	0	—
POLR3A	0	—
DPP6	0	—
GALC	3	—
ITPR1	13	—

Clinical trials & evidence

Clinical trials

Clinical trials: 184.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	157
PHASE2	12
PHASE1/PHASE2	6
PHASE1	4
PHASE4	3
PHASE3	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06710574	PHASE4	RECRUITING	Multimodal Image Technologies Investigate the Role and Mechanism of Probiotics in Improving RBD with Parkinson’s Disease
NCT01662414	PHASE4	COMPLETED	Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson’s Disease
NCT04871464	PHASE4	UNKNOWN	Role and Mechanism of Probiotics in Improving Motor Symptoms in Mild to Moderate Parkinson’s Disease
NCT01838278	PHASE3	UNKNOWN	Effectiveness of Vojta Therapy in Motor Development of Preterm Children
NCT06948019	PHASE1/PHASE2	NOT_YET_RECRUITING	Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
NCT00001929	PHASE2	COMPLETED	Treatment of Parkinson’s Disease With Eliprodil
NCT00036296	PHASE1/PHASE2	COMPLETED	Effects of Talampanel on Patients With Advanced Parkinson’s Disease
NCT00037167	PHASE1/PHASE2	COMPLETED	Effects of Exercise Poles on Older Adults During Exercise Walking
NCT00331669	PHASE2	UNKNOWN	Efficacy and Safety of Deep Brain Stimulation (DBS) of the Pallidal (GPi) in Patients With Tardive Dystonia
NCT00406029	PHASE2	COMPLETED	Dyskinesia in Parkinson’s Disease (Study P04501)
NCT00537017	PHASE2	COMPLETED	Follow Up Safety Study of SCH 420814 in Subjects With Parkinson’s Disease (P05175)
NCT00693472	PHASE2	TERMINATED	Study of Preladenant for the Treatment of Neuroleptic Induced Akathisia (Study P05145)
NCT01385592	PHASE2	COMPLETED	Evaluation of the Efficacy and Safety of AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias
NCT01491529	PHASE2	COMPLETED	Evaluation of the Efficacy and Safety of Modified Release AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias
NCT01491932	PHASE2	COMPLETED	Open-label, Long-term Safety Extension Study of AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias
NCT02500628	PHASE2	COMPLETED	Heart Rate Variability in Response to Metformin Challenge
NCT03295786	PHASE1/PHASE2	COMPLETED	Clinical Study to Test the Safety of CDNF by Brain Infusion in Patients With Parkinson’s Disease
NCT03775538	PHASE1/PHASE2	COMPLETED	Safety of CDNF by Brain Infusion in Patients With Parkinson’s Disease. Extension to HP-CD-CL-2002 Clinical Study
NCT04228653	PHASE1/PHASE2	UNKNOWN	Long-Term Follow-up Safety After DDS Implantation With/Without CDNF Infusions
NCT04536987	PHASE2	COMPLETED	Robot Therapy for Rehabilitation of Hand Movement After Stroke
NCT04912115	PHASE2	SUSPENDED	Randomized, Double-Blind, Active Placebo-Controlled Study of Ketamine to Treat Levodopa-Induced Dyskinesia
NCT05636852	PHASE2	TERMINATED	Altropane Dose for Imaging Patients With Suspected Parkinson’s Disease
NCT07232147	PHASE1	NOT_YET_RECRUITING	Clinical Research on Stem Cell Therapy for Parkinson’s Disease
NCT00001663	PHASE1	COMPLETED	Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation
NCT02589340	PHASE1	TERMINATED	Buspirone, in Combination With Amantadine, for the Treatment of Levodopa-induced Dyskinesia
NCT03065192	PHASE1	COMPLETED	Safety and Efficacy Study of VY-AADC01 for Advanced Parkinson’s Disease
NCT00500994	EARLY_PHASE1	COMPLETED	Neurobiology of Functional Movement Disorder and Non-Epileptic Seizures
NCT00001208	Not specified	RECRUITING	Botulinum Toxin for the Treatment of Involuntary Movement Disorders
NCT00001252	Not specified	RECRUITING	Human Movement Database
NCT00018889	Not specified	RECRUITING	Phenotype/Genotype Correlations in Movement Disorders
NCT02014246	Not specified	RECRUITING	Genetic Characterization of Movement Disorders and Dementias
NCT02252380	Not specified	ACTIVE_NOT_RECRUITING	ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders
NCT02696603	Not specified	ACTIVE_NOT_RECRUITING	Mobile Parkinson Observatory for Worldwide, Evidence-based Research (mPower)
NCT03100474	Not specified	ACTIVE_NOT_RECRUITING	Global Registry: ExAblate Neuro MR Guided Focused Ultrasound (MRgFUS) of Neurological Disorders:
NCT04061135	Not specified	RECRUITING	Neurophysiological, Behavioral, and Cognitive Networks in Movement Disorders
NCT04071847	Not specified	RECRUITING	Abbott DBS Post-Market Study of Outcomes for Indications Over Time
NCT04681781	Not specified	ENROLLING_BY_INVITATION	SLC13A5 Deficiency Natural History Study - Remote Only
NCT04784494	Not specified	ACTIVE_NOT_RECRUITING	MST for Parkinson’s Disease
NCT04848077	Not specified	RECRUITING	STEPWISE Parkinson: A Smartphone Based Exercise Solution for Patients With Parkinson’s Disease
NCT04985539	Not specified	ACTIVE_NOT_RECRUITING	The Personalized Parkinson Project De Novo Cohort

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
LEVODOPA	4	2
BUSPIRONE	4	1
HALOPERIDOL	4	1
IOFLUPANE	4	1
PRELADENANT	3	3
ALTROPANE	3	1
MAVOGLURANT	2	3
ELIPRODIL	2	1
ISOXAFLUTOLE	2	1
TALAMPANEL	2	1
CHEMBL280974	0	1