Parkinsonian disorder
diseaseOn this page
Summary
Parkinsonian disorder (MONDO:0021095) is a disease (an umbrella term covering 21 Mondo subtypes) with 21 cohort genes and 33 clinical trials. Top therapeutic interventions include preladenant, mavoglurant, and isoxaflutole.
At a glance
- Umbrella term: 21 Mondo subtypes
- Cohort genes: 21
- ClinVar variants: 31
- Clinical trials: 33
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | parkinsonian disorder |
| Mondo ID | MONDO:0021095 |
| MeSH | D020734 |
| DOID | DOID:0080855 |
| UMLS | C0242422 |
| MedGen | 66079 |
| Is cancer (heuristic) | no |
Data availability: 31 ClinVar variants.
Disease family
An umbrella term covering 21 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › basal ganglia disorder › parkinsonian disorder
Related subtypes (3): basal ganglia cerebrovascular disorder, bilateral striopallidodentate calcinosis, biotin-responsive basal ganglia disease
Subtypes (21): postencephalitic Parkinson disease, Parkinson disease, dystonia 12, Perry syndrome, X-linked parkinsonism-spasticity syndrome, early-onset parkinsonism-intellectual disability syndrome, X-linked dystonia-parkinsonism, autosomal dominant striatal neurodegeneration type 1, dystonia 16, parkinsonism-dystonia, infantile, cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome, hemiparkinsonism-hemiatrophy syndrome, carbon monoxide-induced parkinsonism, cyanide-induced parkinsonism, atypical juvenile parkinsonism, primary progressive freezing gait, encephalitis lethargica, parkinsonism with dementia of Guadeloupe, multiple system atrophy, parkinsonian type, parkinsonism with polyneuropathy, vascular parkinsonism
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
31 retrieved; paginated sample, class counts are floors:
14 uncertain significance, 10 conflicting classifications of pathogenicity, 3 benign/likely benign, 2 pathogenic, 2 conflicting classifications of pathogenicity; risk factor
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1687738 | NM_002087.4(GRN):c.52A>G (p.Thr18Ala) | GRN | Pathogenic | no assertion criteria provided |
| 375734 | NM_001013663.2(PTRHD1):c.155G>A (p.Cys52Tyr) | LOC129933272 | Pathogenic | criteria provided, single submitter |
| 374038 | NM_001288705.3(CSF1R):c.647G>A (p.Arg216Gln) | CSF1R | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 453052 | NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp) | DCTN1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1680932 | NM_002047.4(GARS1):c.1268C>T (p.Ser423Phe) | GARS1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 199044 | NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) | GBA1 | Conflicting classifications of pathogenicity; risk factor | 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 |
| 18398 | NM_181840.1(KCNK18):c.414_415del (p.Phe139fs) | KCNK18 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 3571549 | NM_198578.4(LRRK2):c.2300G>A (p.Arg767His) | LRRK2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 127974 | NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) | MRE11 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 198195 | NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys) | SLC2A1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 21481 | NM_007375.4(TARDBP):c.269C>T (p.Ala90Val) | TARDBP | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 375707 | NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys) | TBC1D24 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 375708 | NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) | TBC1D24 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 373900 | NM_183357.3(ADCY5):c.649del (p.Arg217fs) | ADCY5 | Uncertain significance | no assertion criteria provided |
| 4075748 | NM_003458.4(BSN):c.9862G>A (p.Glu3288Lys) | BSN | Uncertain significance | criteria provided, single submitter |
| 1037550 | NM_014043.4(CHMP2B):c.613C>T (p.Arg205Trp) | CHMP2B | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 493050 | NM_000157.4(GBA1):c.1279G>A (p.Glu427Lys) | GBA1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 373908 | NM_198578.4(LRRK2):c.5647T>C (p.Phe1883Leu) | LRRK2 | Uncertain significance | criteria provided, single submitter |
| 2502848 | NM_001377265.1(MAPT):c.416A>G (p.Lys139Arg) | MAPT | Uncertain significance | no assertion criteria provided |
| 481777 | NM_005591.4(MRE11):c.229G>A (p.Glu77Lys) | MRE11 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 374080 | NC_012920.1(MT-ND6):m.14598T>C | MT-ND6 | Uncertain significance | reviewed by expert panel |
| 523454 | NM_002609.4(PDGFRB):c.3241G>A (p.Glu1081Lys) | PDGFRB | Uncertain significance | criteria provided, single submitter |
| 2150544 | NM_003560.4(PLA2G6):c.1028C>T (p.Ala343Val) | PLA2G6 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1434096 | NM_032242.4(PLXNA1):c.3368C>T (p.Pro1123Leu) | PLXNA1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3015387 | NM_198994.3(TGM6):c.1076C>T (p.Pro359Leu) | TGM6 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 523569 | NM_198994.3(TGM6):c.76C>T (p.Pro26Ser) | TGM6 | Uncertain significance | criteria provided, single submitter |
| 374122 | NM_003332.4(TYROBP):c.94G>A (p.Asp32Asn) | TYROBP | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 39221 | NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp) | LRRK2 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts |
| 159725 | NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) | PLA2G6 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 71 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| SLC2A1 | Orphanet:168577 | Hereditary cryohydrocytosis with reduced stomatin |
| SLC2A1 | Orphanet:1942 | Epilepsy with myoclonic-atonic seizures |
| SLC2A1 | Orphanet:2131 | Alternating hemiplegia of childhood |
| SLC2A1 | Orphanet:53583 | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity |
| SLC2A1 | Orphanet:71277 | Classic glucose transporter type 1 deficiency syndrome |
| SLC2A1 | Orphanet:86911 | Epilepsy with myoclonic absences |
| SLC2A1 | Orphanet:98811 | Paroxysmal exertion-induced dyskinesia |
| TARDBP | Orphanet:275872 | Frontotemporal dementia with motor neuron disease |
| TARDBP | Orphanet:700154 | TARDBP-related predominantly upper-limb distal myopathy |
| TARDBP | Orphanet:803 | Amyotrophic lateral sclerosis |
| TYROBP | Orphanet:2770 | Nasu-Hakola disease |
| TGM6 | Orphanet:276193 | Spinocerebellar ataxia type 35 |
| TGM6 | Orphanet:319465 | Inherited acute myeloid leukemia |
| LRRK2 | Orphanet:2828 | Young-onset Parkinson disease |
| LRRK2 | Orphanet:411602 | Hereditary late-onset Parkinson disease |
| ADCY5 | Orphanet:1429 | Benign hereditary chorea |
| ADCY5 | Orphanet:324588 | Familial dyskinesia and facial myokymia |
| CSF1R | Orphanet:313808 | Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia |
| CSF1R | Orphanet:556985 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia |
| CHMP2B | Orphanet:100069 | Semantic dementia |
| CHMP2B | Orphanet:100070 | Progressive non-fluent aphasia |
| CHMP2B | Orphanet:275864 | Behavioral variant of frontotemporal dementia |
| CHMP2B | Orphanet:803 | Amyotrophic lateral sclerosis |
| DCTN1 | Orphanet:139589 | Distal hereditary motor neuropathy type 7 |
| DCTN1 | Orphanet:178509 | Perry syndrome |
| DCTN1 | Orphanet:803 | Amyotrophic lateral sclerosis |
| 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 |
| GARS1 | Orphanet:139536 | Distal hereditary motor neuropathy type 5 |
| GARS1 | Orphanet:99938 | Autosomal dominant Charcot-Marie-Tooth disease type 2D |
| 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 |
| GRN | Orphanet:100069 | Semantic dementia |
| GRN | Orphanet:100070 | Progressive non-fluent aphasia |
| GRN | Orphanet:275864 | Behavioral variant of frontotemporal dementia |
| GRN | Orphanet:314629 | CLN11 disease |
| MAPT | Orphanet:100069 | Semantic dementia |
| MAPT | Orphanet:100070 | Progressive non-fluent aphasia |
| MAPT | Orphanet:240071 | Classic progressive supranuclear palsy syndrome |
| MAPT | Orphanet:240085 | Progressive supranuclear palsy-predominant parkinsonism syndrome |
Cohort genes → proteins
21 cohort genes, 21 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 21 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| SLC2A1 | HGNC:11005 | ENSG00000117394 | P11166 | Solute carrier family 2, facilitated glucose transporter member 1 | clinvar |
| BSN | HGNC:1117 | ENSG00000164061 | Q9UPA5 | Protein bassoon | clinvar |
| TARDBP | HGNC:11571 | ENSG00000120948 | Q13148 | TAR DNA-binding protein 43 | clinvar |
| TYROBP | HGNC:12449 | ENSG00000011600 | O43914 | TYRO protein tyrosine kinase-binding protein | clinvar |
| TGM6 | HGNC:16255 | ENSG00000166948 | O95932 | Protein-glutamine gamma-glutamyltransferase 6 | clinvar |
| LRRK2 | HGNC:18618 | ENSG00000188906 | Q5S007 | Leucine-rich repeat serine/threonine-protein kinase 2 | clinvar |
| KCNK18 | HGNC:19439 | ENSG00000186795 | Q7Z418 | Potassium channel subfamily K member 18 | clinvar |
| ADCY5 | HGNC:236 | ENSG00000173175 | O95622 | Adenylate cyclase type 5 | clinvar |
| CSF1R | HGNC:2433 | ENSG00000182578 | P07333 | Macrophage colony-stimulating factor 1 receptor | clinvar |
| CHMP2B | HGNC:24537 | ENSG00000083937 | Q9UQN3 | Charged multivesicular body protein 2b | clinvar |
| DCTN1 | HGNC:2711 | ENSG00000204843 | Q14203 | Dynactin subunit 1 | clinvar |
| TBC1D24 | HGNC:29203 | ENSG00000162065 | Q9ULP9 | TBC1 domain family member 24 | clinvar |
| GARS1 | HGNC:4162 | ENSG00000106105 | P41250 | Glycine–tRNA ligase | clinvar |
| GBA1 | HGNC:4177 | ENSG00000177628 | P04062 | Lysosomal acid glucosylceramidase | clinvar |
| GRN | HGNC:4601 | ENSG00000030582 | P28799 | Progranulin | clinvar |
| MAPT | HGNC:6893 | ENSG00000186868 | P10636 | Microtubule-associated protein tau | clinvar |
| MRE11 | HGNC:7230 | ENSG00000020922 | P49959 | Double-strand break repair protein MRE11 | clinvar |
| MT-ND6 | HGNC:7462 | ENSG00000198695 | P03923 | NADH-ubiquinone oxidoreductase chain 6 | clinvar |
| PDGFRB | HGNC:8804 | ENSG00000113721 | P09619 | Platelet-derived growth factor receptor beta | clinvar |
| PLA2G6 | HGNC:9039 | ENSG00000184381 | O60733 | 85/88 kDa calcium-independent phospholipase A2 | clinvar |
| PLXNA1 | HGNC:9099 | ENSG00000114554 | Q9UIW2 | Plexin-A1 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| SLC2A1 | Solute carrier family 2, facilitated glucose transporter member 1 | Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake. |
| BSN | Protein bassoon | Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released. |
| TARDBP | TAR DNA-binding protein 43 | RNA-binding protein that is involved in various steps of RNA biogenesis and processing. |
| TYROBP | TYRO protein tyrosine kinase-binding protein | Adapter protein which non-covalently associates with activating receptors found on the surface of a variety of immune cells to mediate signaling and cell activation following ligand binding by the receptors. |
| TGM6 | Protein-glutamine gamma-glutamyltransferase 6 | Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. |
| LRRK2 | Leucine-rich repeat serine/threonine-protein kinase 2 | Serine/threonine-protein kinase which phosphorylates a broad range of proteins involved in multiple processes such as neuronal plasticity, innate immunity, autophagy, and vesicle trafficking. |
| KCNK18 | Potassium channel subfamily K member 18 | K(+) channel that conducts outward and inward rectifying currents at depolarized and hyperpolarized membrane potentials, respectively. |
| ADCY5 | Adenylate cyclase type 5 | Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. |
| CSF1R | Macrophage colony-stimulating factor 1 receptor | Tyrosine-protein kinase that acts as a cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes… |
| CHMP2B | Charged multivesicular body protein 2b | Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. |
| DCTN1 | Dynactin subunit 1 | Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules. |
| TBC1D24 | TBC1 domain family member 24 | May act as a GTPase-activating protein for Rab family protein(s). |
| GARS1 | Glycine–tRNA ligase | Catalyzes the ATP-dependent ligation of glycine to the 3’-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP). |
| 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. |
| GRN | Progranulin | Secreted protein that acts as a key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation. |
| MAPT | Microtubule-associated protein tau | Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. |
| MRE11 | Double-strand break repair protein MRE11 | Core component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. |
| MT-ND6 | NADH-ubiquinone oxidoreductase chain 6 | Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. |
| PDGFRB | Platelet-derived growth factor receptor beta | Tyrosine-protein kinase that acts as a cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, surviv… |
| PLA2G6 | 85/88 kDa calcium-independent phospholipase A2 | Calcium-independent phospholipase involved in phospholipid remodeling with implications in cellular membrane homeostasis, mitochondrial integrity and signal transduction. |
| PLXNA1 | Plexin-A1 | Coreceptor for SEMA3A, SEMA3C, SEMA3F and SEMA6D. |
Protein-family classification
Druggable: 10 · Difficult: 2 · Unknown: 9 · Druggable fraction: 0.48
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 |
|---|---|---|---|
| Kinase | 3 | 4.0× | 0.307 |
| Ion channel | 1 | 5.3× | 0.405 |
| Transporter | 1 | 3.7× | 0.405 |
| Antibody/Immunoglobulin | 2 | 2.8× | 0.405 |
| Enzyme (other) | 3 | 1.7× | 0.405 |
| Scaffold/PPI | 1 | 0.8× | 0.934 |
| Other/Unknown | 9 | 0.8× | 0.934 |
| Transcription factor | 1 | 0.4× | 0.934 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| SLC2A1 | Transporter | yes | Glu_transpt_1, Sugar/inositol_transpt, MFS_sugar_transport-like | |
| BSN | Transcription factor | no | Znf_piccolo, Znf_FYVE_PHD, Znf_RING/FYVE/PHD | |
| TARDBP | Other/Unknown | no | RRM_dom, Nucleotide-bd_a/b_plait_sf, RBD_domain_sf | |
| TYROBP | Other/Unknown | no | Tyrobp | |
| TGM6 | Antibody/Immunoglobulin | yes | 2.3.2.13 | Transglutaminase_N, Transglutaminase-like, Transglutaminase_C |
| LRRK2 | Kinase | yes | Prot_kinase_dom, Leu-rich_rpt, Leu-rich_rpt_typical-subtyp | |
| KCNK18 | Ion channel | yes | 2pore_dom_K_chnl, K_chnl_dom | |
| ADCY5 | Enzyme (other) | yes | 4.6.1.1 | A/G_cyclase, Adcy_conserved_dom, A/G_cyclase_CS |
| CSF1R | Kinase | yes | 2.7.10.1 | Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS |
| CHMP2B | Other/Unknown | no | Snf7_fam | |
| DCTN1 | Other/Unknown | no | CAP-Gly_domain, Dynactin, CAP-Gly_dom_sf | |
| TBC1D24 | Other/Unknown | no | Rab-GAP-TBC_dom, TLDc_dom, Rab-GAP_TBC_sf | |
| GARS1 | Enzyme (other) | yes | 6.1.1.14 | WHEP-TRS_dom, aa-tRNA-synt_IIb, tRNA-synt_gly |
| GBA1 | Enzyme (other) | yes | 3.2.1.45 | Glyco_hydro_30, GH_hydrolase_sf, GH30_C |
| GRN | Other/Unknown | no | Granulin, Granulin_sf, Granulin_fam | |
| MAPT | Other/Unknown | no | MAP_tubulin-bd_rpt, Tau, MAP2/MAP4/Tau | |
| MRE11 | Other/Unknown | no | Mre11, Calcineurin-like_PHP, Mre11_DNA-bd | |
| MT-ND6 | Other/Unknown | no | NADH_UbQ/plastoQ_OxRdtase_su6, ComplexI_Subunit6 | |
| PDGFRB | Kinase | yes | 2.7.10.1 | Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS |
| PLA2G6 | Scaffold/PPI | no | 3.1.1.4 | Ankyrin_rpt, PNPLA_dom, Acyl_Trfase/lysoPLipase |
| PLXNA1 | Antibody/Immunoglobulin | yes | Semap_dom, Plexin_repeat, IPT_dom |
Expression context
Cohort genes with no expression data: 0.
20 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) | 1 |
| broad (>20) | 20 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| monocyte | 4 |
| stromal cell of endometrium | 4 |
| middle temporal gyrus | 3 |
| secondary oocyte | 3 |
| leukocyte | 3 |
| colonic epithelium | 2 |
| granulocyte | 2 |
| prefrontal cortex | 2 |
| cortical plate | 2 |
| right uterine tube | 2 |
| skin of abdomen | 1 |
| sural nerve | 1 |
| tibial nerve | 1 |
| frontal pole | 1 |
| paraflocculus | 1 |
| ganglionic eminence | 1 |
| ventricular zone | 1 |
| mononuclear cell | 1 |
| bone marrow cell | 1 |
| kidney epithelium | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| SLC2A1 | 250 | ubiquitous | marker | tibial nerve, sural nerve, skin of abdomen |
| BSN | 156 | broad | marker | frontal pole, paraflocculus, middle temporal gyrus |
| TARDBP | 301 | ubiquitous | marker | secondary oocyte, ventricular zone, ganglionic eminence |
| TYROBP | 271 | broad | marker | monocyte, mononuclear cell, leukocyte |
| TGM6 | 39 | tissue_specific | marker | colonic epithelium, bone marrow cell, kidney epithelium |
| LRRK2 | 220 | broad | marker | buccal mucosa cell, monocyte, leukocyte |
| KCNK18 | 11 | yes | nucleus accumbens, caudate nucleus, colonic epithelium | |
| ADCY5 | 193 | broad | marker | apex of heart, lower esophagus muscularis layer, lower esophagus |
| CSF1R | 245 | broad | marker | granulocyte, monocyte, leukocyte |
| CHMP2B | 300 | ubiquitous | marker | medial globus pallidus, amniotic fluid, mucosa of sigmoid colon |
| DCTN1 | 275 | ubiquitous | marker | right frontal lobe, prefrontal cortex, right hemisphere of cerebellum |
| TBC1D24 | 227 | ubiquitous | marker | parotid gland, Brodmann (1909) area 23, middle temporal gyrus |
| GARS1 | 293 | ubiquitous | marker | secondary oocyte, cartilage tissue, lateral nuclear group of thalamus |
| GBA1 | 134 | ubiquitous | marker | stromal cell of endometrium, islet of Langerhans, placenta |
| GRN | 301 | ubiquitous | marker | monocyte, granulocyte, stromal cell of endometrium |
| MAPT | 141 | broad | marker | cortical plate, superior frontal gyrus, prefrontal cortex |
| MRE11 | 254 | ubiquitous | marker | calcaneal tendon, oocyte, secondary oocyte |
| MT-ND6 | 134 | ubiquitous | marker | mucosa of stomach, left uterine tube, right uterine tube |
| PDGFRB | 270 | ubiquitous | marker | stromal cell of endometrium, right coronary artery, endocervix |
| PLA2G6 | 232 | ubiquitous | marker | right uterine tube, right lobe of thyroid gland, left lobe of thyroid gland |
| PLXNA1 | 279 | tissue_specific | marker | middle temporal gyrus, cortical plate, stromal cell of endometrium |
Protein interactions among cohort
Intra-cohort edges: 9.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| LRRK2 | 7,628 |
| MAPT | 7,289 |
| TARDBP | 7,245 |
| SLC2A1 | 5,711 |
| PDGFRB | 5,111 |
| CSF1R | 4,392 |
| MRE11 | 3,932 |
| DCTN1 | 3,654 |
| TYROBP | 2,723 |
| GBA1 | 2,568 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| CHMP2B | TARDBP | string_interaction |
| CSF1R | TYROBP | string_interaction |
| DCTN1 | MAPT | biogrid_interaction |
| GBA1 | LRRK2 | string_interaction |
| GBA1 | PLA2G6 | string_interaction |
| LRRK2 | MAPT | string_interaction |
| MAPT | TARDBP | string_interaction |
| MAPT | TBC1D24 | intact |
| PLXNA1 | TYROBP | string_interaction |
Structural data
PDB: 16 · AlphaFold-only: 5 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| MAPT | P10636 | 293 |
| GBA1 | P04062 | 58 |
| TARDBP | Q13148 | 44 |
| LRRK2 | Q5S007 | 44 |
| CSF1R | P07333 | 26 |
| GARS1 | P41250 | 14 |
| DCTN1 | Q14203 | 13 |
| MRE11 | P49959 | 10 |
| GRN | P28799 | 8 |
| PDGFRB | P09619 | 8 |
| SLC2A1 | P11166 | 5 |
| TYROBP | O43914 | 5 |
| MT-ND6 | P03923 | 5 |
| PLXNA1 | Q9UIW2 | 3 |
| ADCY5 | O95622 | 2 |
| CHMP2B | Q9UQN3 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| TGM6 | O95932 | 90.95 |
| PLA2G6 | O60733 | 86.16 |
| TBC1D24 | Q9ULP9 | 84.46 |
| KCNK18 | Q7Z418 | 70.04 |
| BSN | Q9UPA5 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 177. Enrichment computed across 21 evidence-associated genes (19 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 19 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Other semaphorin interactions | 2 | 63.3× | 0.078 | TYROBP, PLXNA1 |
| TWIK-related spinal cord K+ channel (TRESK) | 1 | 601.0× | 0.098 | KCNK18 |
| Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1) | 1 | 601.0× | 0.098 | SLC2A1 |
| Lactose synthesis | 1 | 200.3× | 0.130 | SLC2A1 |
| Acyl chain remodeling of CL | 1 | 100.2× | 0.130 | PLA2G6 |
| Sensing of DNA Double Strand Breaks | 1 | 100.2× | 0.130 | MRE11 |
| PTK6 promotes HIF1A stabilization | 1 | 85.9× | 0.130 | LRRK2 |
| Vitamin C (ascorbate) metabolism | 1 | 75.1× | 0.130 | SLC2A1 |
| Adenylate cyclase activating pathway | 1 | 60.1× | 0.130 | ADCY5 |
| STING mediated induction of host immune responses | 1 | 54.6× | 0.130 | MRE11 |
| Tandem pore domain potassium channels | 1 | 50.1× | 0.130 | KCNK18 |
| Caspase-mediated cleavage of cytoskeletal proteins | 1 | 50.1× | 0.130 | MAPT |
| Defective homologous recombination repair (HRR) due to PALB2 loss of function | 1 | 50.1× | 0.130 | MRE11 |
| HDR through MMEJ (alt-NHEJ) | 1 | 46.2× | 0.130 | MRE11 |
| Translation of Replicase and Assembly of the Replication Transcription Complex | 1 | 46.2× | 0.130 | CHMP2B |
| IRF3-mediated induction of type I IFN | 1 | 42.9× | 0.130 | MRE11 |
| Diseases of DNA Double-Strand Break Repair | 1 | 42.9× | 0.130 | MRE11 |
| Translation of Replicase and Assembly of the Replication Transcription Complex | 1 | 42.9× | 0.130 | CHMP2B |
| Defective homologous recombination repair (HRR) due to BRCA2 loss of function | 1 | 42.9× | 0.130 | MRE11 |
| Adenylate cyclase inhibitory pathway | 1 | 40.1× | 0.130 | ADCY5 |
| SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion | 1 | 40.1× | 0.130 | PLXNA1 |
| PKA activation in glucagon signalling | 1 | 35.4× | 0.130 | ADCY5 |
| Signal regulatory protein family interactions | 1 | 35.4× | 0.130 | TYROBP |
| Sema3A PAK dependent Axon repulsion | 1 | 35.4× | 0.130 | PLXNA1 |
| PKA activation | 1 | 33.4× | 0.130 | ADCY5 |
| CRMPs in Sema3A signaling | 1 | 33.4× | 0.130 | PLXNA1 |
| Resolution of D-Loop Structures | 1 | 33.4× | 0.130 | MRE11 |
| Phase 4 - resting membrane potential | 1 | 31.6× | 0.130 | KCNK18 |
| Activation of GABAB receptors | 1 | 31.6× | 0.130 | ADCY5 |
| PKA-mediated phosphorylation of CREB | 1 | 30.1× | 0.130 | ADCY5 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 20 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| microglial cell activation involved in immune response | 2 | 337.0× | 0.003 | TYROBP, GRN |
| intracellular distribution of mitochondria | 2 | 240.7× | 0.003 | LRRK2, MAPT |
| T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell | 2 | 210.7× | 0.003 | TYROBP, PLXNA1 |
| regulation of mitochondrial fission | 2 | 210.7× | 0.003 | LRRK2, MAPT |
| lysosome organization | 3 | 46.0× | 0.003 | LRRK2, GBA1, GRN |
| microglial cell proliferation | 2 | 187.2× | 0.004 | CSF1R, GBA1 |
| maintenance of synapse structure | 2 | 153.2× | 0.005 | DCTN1, GRN |
| lysosomal protein catabolic process | 2 | 105.3× | 0.009 | GBA1, GRN |
| locomotory exploration behavior | 2 | 99.1× | 0.009 | LRRK2, GRN |
| positive regulation of superoxide anion generation | 2 | 88.7× | 0.010 | TYROBP, MAPT |
| olfactory bulb development | 2 | 76.6× | 0.013 | LRRK2, CSF1R |
| protein autophosphorylation | 3 | 21.8× | 0.013 | LRRK2, CSF1R, PDGFRB |
| positive regulation of microtubule polymerization | 2 | 67.4× | 0.014 | DCTN1, MAPT |
| myeloid leukocyte activation | 1 | 842.6× | 0.016 | TYROBP |
| regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation | 1 | 842.6× | 0.016 | KCNK18 |
| cell migration involved in coronary angiogenesis | 1 | 842.6× | 0.016 | PDGFRB |
| nuclear inner membrane organization | 1 | 842.6× | 0.016 | TARDBP |
| metanephric glomerular mesangial cell proliferation involved in metanephros development | 1 | 842.6× | 0.016 | PDGFRB |
| plus-end-directed organelle transport along microtubule | 1 | 842.6× | 0.016 | MAPT |
| mitochondrial double-strand break repair via homologous recombination | 1 | 842.6× | 0.016 | MRE11 |
| positive regulation of neuronal action potential | 1 | 842.6× | 0.016 | GBA1 |
| cellular response to curcumin | 1 | 842.6× | 0.016 | LRRK2 |
| Wnt signalosome assembly | 1 | 842.6× | 0.016 | LRRK2 |
| positive regulation of aspartic-type peptidase activity | 1 | 842.6× | 0.016 | GRN |
| amyloid fibril formation | 2 | 60.2× | 0.016 | TARDBP, MAPT |
| motor behavior | 2 | 56.2× | 0.016 | DCTN1, GBA1 |
| neuromuscular junction development | 2 | 52.7× | 0.016 | LRRK2, DCTN1 |
| neuromuscular process | 2 | 52.7× | 0.016 | DCTN1, GBA1 |
| axon development | 2 | 45.5× | 0.016 | TBC1D24, MAPT |
| neuron cellular homeostasis | 2 | 45.5× | 0.016 | CHMP2B, DCTN1 |
Therapeutics
Drug target analysis
Approved (phase 4): 7 · Phase ≥3: 8 · Phased (≥1): 9 · Undrugged: 12
Druggability breadth: 16 of 21 evidence-associated genes (76%) 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 |
|---|---|
| SLC2A1 | EMETINE |
| TARDBP | MITOXANTRONE |
| LRRK2 | PONATINIB |
| CSF1R | PONATINIB |
| GBA1 | MIGALASTAT |
| MAPT | BEPRIDIL |
| PDGFRB | PONATINIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| MAPT | 449 | 4 |
| PDGFRB | 102 | 4 |
| CSF1R | 79 | 4 |
| LRRK2 | 42 | 4 |
| GBA1 | 12 | 4 |
| SLC2A1 | 7 | 4 |
| TARDBP | 1 | 4 |
| GARS1 | 1 | 3 |
| PLA2G6 | 1 | 2 |
| BSN | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| EMETINE | 4 | SLC2A1 |
| MITOXANTRONE | 4 | TARDBP |
| PONATINIB | 4 | CSF1R, LRRK2, PDGFRB |
| FEDRATINIB | 4 | CSF1R, LRRK2, PDGFRB |
| AXITINIB | 4 | CSF1R, LRRK2, PDGFRB |
| RUXOLITINIB | 4 | LRRK2 |
| PALBOCICLIB | 4 | LRRK2 |
| ENTRECTINIB | 4 | CSF1R, LRRK2 |
| TOFACITINIB CITRATE | 4 | LRRK2 |
| TOFACITINIB | 4 | LRRK2 |
| VANDETANIB | 4 | CSF1R, LRRK2, PDGFRB |
| BOSUTINIB | 4 | CSF1R, LRRK2, PDGFRB |
| BRIGATINIB | 4 | CSF1R, LRRK2 |
| NINTEDANIB | 4 | CSF1R, LRRK2, PDGFRB |
| SUNITINIB | 4 | CSF1R, LRRK2, PDGFRB |
| ERLOTINIB | 4 | LRRK2, PDGFRB |
| MIDOSTAURIN | 4 | CSF1R, LRRK2, PDGFRB |
| SORAFENIB | 4 | CSF1R, PDGFRB |
| DASATINIB ANHYDROUS | 4 | CSF1R |
| SUNITINIB MALATE | 4 | CSF1R, PDGFRB |
| NERATINIB | 4 | CSF1R |
| IBRUTINIB | 4 | CSF1R |
| PACRITINIB | 4 | CSF1R, PDGFRB |
| NILOTINIB | 4 | CSF1R, PDGFRB |
| FILGOTINIB | 4 | CSF1R |
| PEXIDARTINIB | 4 | CSF1R, PDGFRB |
| PAZOPANIB | 4 | CSF1R, PDGFRB |
| DASATINIB | 4 | CSF1R, PDGFRB |
| QUIZARTINIB | 4 | CSF1R, PDGFRB |
| CRIZOTINIB | 4 | CSF1R |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 7.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| PDGFRB | 1,237 | Binding:1213, Functional:16, ADMET:8 |
| CSF1R | 897 | Binding:879, Functional:17, ADMET:1 |
| LRRK2 | 809 | Binding:799, ADMET:7, Functional:3 |
| GBA1 | 436 | Binding:403, Functional:33 |
| MAPT | 184 | Binding:180, Functional:4 |
| SLC2A1 | 158 | Binding:130, ADMET:24, Functional:4 |
| PLA2G6 | 47 | Binding:47 |
| ADCY5 | 43 | Binding:33, Functional:9, ADMET:1 |
| MRE11 | 36 | Binding:36 |
| KCNK18 | 9 | Binding:7, ADMET:2 |
| TARDBP | 8 | Binding:7, Functional:1 |
| TGM6 | 8 | Binding:8 |
| GARS1 | 8 | Binding:8 |
| MT-ND6 | 4 | Binding:4 |
| GRN | 2 | Binding:2 |
| DCTN1 | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| TGM6 | 2.3.2.13 | protein-glutamine gamma-glutamyltransferase |
| ADCY5 | 4.6.1.1 | adenylate cyclase |
| CSF1R | 2.7.10.1 | receptor protein-tyrosine kinase |
| GARS1 | 6.1.1.14 | glycine-tRNA ligase |
| GBA1 | 3.2.1.45 | glucosylceramidase |
| PDGFRB | 2.7.10.1 | receptor protein-tyrosine kinase |
| PLA2G6 | 3.1.1.4 | phospholipase A2 |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| SLC2A1 | 158 |
| LRRK2 | 809 |
| CSF1R | 897 |
| GBA1 | 436 |
| MAPT | 184 |
| PDGFRB | 1,237 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 20; 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) |
|---|---|---|
| EMETINE | 4 | SLC2A1 |
| MITOXANTRONE | 4 | TARDBP |
| PONATINIB | 4 | CSF1R, LRRK2, PDGFRB |
| FEDRATINIB | 4 | CSF1R, LRRK2, PDGFRB |
| AXITINIB | 4 | CSF1R, LRRK2, PDGFRB |
| RUXOLITINIB | 4 | LRRK2 |
| PALBOCICLIB | 4 | LRRK2 |
| ENTRECTINIB | 4 | CSF1R, LRRK2 |
| TOFACITINIB CITRATE | 4 | LRRK2 |
| TOFACITINIB | 4 | LRRK2 |
| VANDETANIB | 4 | CSF1R, LRRK2, PDGFRB |
| BOSUTINIB | 4 | CSF1R, LRRK2, PDGFRB |
| BRIGATINIB | 4 | CSF1R, LRRK2 |
| NINTEDANIB | 4 | CSF1R, LRRK2, PDGFRB |
| SUNITINIB | 4 | CSF1R, LRRK2, PDGFRB |
| ERLOTINIB | 4 | LRRK2, PDGFRB |
| MIDOSTAURIN | 4 | CSF1R, LRRK2, PDGFRB |
| SORAFENIB | 4 | CSF1R, PDGFRB |
| DASATINIB ANHYDROUS | 4 | CSF1R |
| SUNITINIB MALATE | 4 | CSF1R, PDGFRB |
| NERATINIB | 4 | CSF1R |
| IBRUTINIB | 4 | CSF1R |
| PACRITINIB | 4 | CSF1R, PDGFRB |
| NILOTINIB | 4 | CSF1R, PDGFRB |
| FILGOTINIB | 4 | CSF1R |
| PEXIDARTINIB | 4 | CSF1R, PDGFRB |
| PAZOPANIB | 4 | CSF1R, PDGFRB |
| DASATINIB | 4 | CSF1R, PDGFRB |
| QUIZARTINIB | 4 | CSF1R, PDGFRB |
| CRIZOTINIB | 4 | CSF1R |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 7 | SLC2A1, TARDBP, LRRK2, CSF1R, GBA1, MAPT, PDGFRB |
| B | Phased (≥1) drug, not yet approved | 2 | GARS1, PLA2G6 |
| C | Druggable family + PDB, no drug | 2 | ADCY5, PLXNA1 |
| D | Druggable family + AlphaFold only, no drug | 2 | TGM6, KCNK18 |
| E | Difficult family or no structure, no drug | 8 | BSN, TYROBP, CHMP2B, DCTN1, TBC1D24, GRN, MRE11, MT-ND6 |
Undrugged target profiles
12 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| BSN | 0 | — |
| TYROBP | 0 | — |
| TGM6 | 8 | — |
| KCNK18 | 9 | — |
| ADCY5 | 43 | — |
| CHMP2B | 0 | — |
| DCTN1 | 1 | — |
| TBC1D24 | 0 | — |
| GRN | 2 | — |
| MRE11 | 36 | — |
| MT-ND6 | 4 | — |
| PLXNA1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 33.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 25 |
| PHASE2 | 5 |
| PHASE4 | 2 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| 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 |
| NCT00686699 | PHASE2 | TERMINATED | Study of Preladenant for the Treatment of Antipsychotic Induced Movement Disorders in Participants With Schizophrenia (Study P04628) |
| 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 |
| NCT04727658 | PHASE2 | TERMINATED | Linac FRACtionated Radiosurgical THALamotomie in Tremors (FRACTHAL) |
| NCT03065192 | PHASE1 | COMPLETED | Safety and Efficacy Study of VY-AADC01 for Advanced Parkinson’s Disease |
| NCT02696603 | Not specified | ACTIVE_NOT_RECRUITING | Mobile Parkinson Observatory for Worldwide, Evidence-based Research (mPower) |
| NCT02994719 | Not specified | RECRUITING | Gait Analysis in Neurological Disease |
| NCT03130595 | Not specified | ACTIVE_NOT_RECRUITING | West Sweden Parkinson Objective Measurement Registry Study |
| NCT03649503 | Not specified | RECRUITING | The National Registry Study For the Real-world Patients With Parkinsonian Disorders in China |
| NCT04985539 | Not specified | ACTIVE_NOT_RECRUITING | The Personalized Parkinson Project De Novo Cohort |
| NCT06193252 | Not specified | RECRUITING | Slow-SPEED-NL: Slowing Parkinson’s Early Through Exercise Dosage-Netherlands |
| NCT06875739 | Not specified | ENROLLING_BY_INVITATION | An Innovative Method in SAliva Samples for the Early Differential Diagnosis of High-impact NeuroDegenerative Diseases Through Raman Spectroscopy |
| NCT06993142 | Not specified | NOT_YET_RECRUITING | Slow-SPEED: Slowing Parkinson’s Early Through Exercise Dosage |
| NCT07187843 | Not specified | RECRUITING | Study of Axial and Cognitive Symptoms and Biomarkers of Neurodegeneration in Brain-first and Body-first PD |
| NCT07324330 | Not specified | RECRUITING | Slowing Cognitive Decline in Alpha-synucleinopathies by Enhancing Physical Activity |
| NCT00355927 | Not specified | UNKNOWN | Sedation During Microelectrode Recordings Before Deep Brain Stimulation for Movement Disorders. |
| NCT01380899 | Not specified | COMPLETED | Usefulness of α-synuclein as a Marker for Early Diagnosis of Parkinson’s Disease in Skin Biopsy. |
| NCT01853150 | Not specified | COMPLETED | Repetitive Transcranial Magnetic Stimulation for Freezing of Gait |
| NCT02021903 | Not specified | COMPLETED | Post-prandial Hypotension and Sleepiness in Parkinson’s Disease and Other Synucleinopathies |
| NCT03156647 | Not specified | COMPLETED | Alpha-synuclein Level in Saliva to Differentiate Between Idiopathic Parkinson Disease and Iatrogenic Parkinsonian Syndrome |
| NCT04237948 | Not specified | COMPLETED | tDCS Plus Physical Therapy for Progressive Supranuclear Palsy |
| NCT04704349 | Not specified | COMPLETED | Latest Imaging SPECT System Evaluation Phase 1 |
| NCT04847609 | Not specified | WITHDRAWN | GentleCath Air (Urinary Self-catheterization) - Pain in Female Patients With Neurological Vesico-sphincter Disorders |
| NCT04925622 | Not specified | COMPLETED | Complex Eye Movements in Parkinson’s Disease and Related Movement Disorders |
| NCT04974034 | Not specified | COMPLETED | Movement Disorders Analysis Using a Deep Learning Approach |
| NCT05356845 | Not specified | COMPLETED | Oral Health, Orofacial Function and Oral Health Care in Patients With Parkinson’s Disease |
| NCT05452655 | Not specified | UNKNOWN | Intensive Multidisciplinary Rehabilitation and Biomarkers in Parkinson’s Disease |
| NCT05608915 | Not specified | COMPLETED | External vs Internal-triggered Augmented-reality Visual Cues to Treat Freezing of Gait |
| NCT05906719 | Not specified | UNKNOWN | Machine Vision Based MDS-UPDRS III Machine Rating |
| NCT06283043 | Not specified | UNKNOWN | Effect of Motor Function, Depression and Sleep Quality on Attention in Parkinson’s Disease |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| PRELADENANT | 3 | 1 |
| MAVOGLURANT | 2 | 3 |
| ISOXAFLUTOLE | 2 | 1 |