Sporadic adult-onset ataxia of unknown etiology
disease diseaseOn this page
Also known as idiopathic late-onset cerebellar ataxiaSAOA
Summary
Sporadic adult-onset ataxia of unknown etiology (MONDO:0016591) is a disease and 1 clinical trial. A subtype of acquired ataxia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 100 000 (Italy) [Orphanet-validated]
- Phenotypes (HPO): 28
- Clinical trials: 1
Clinical features
Epidemiology
Prevalence records
3 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 6.9 | Italy | Validated |
| Point prevalence | 1-9 / 100 000 | 8.4 | United Kingdom | Validated |
| Point prevalence | 1-9 / 100 000 | 7.6 | Europe | Not yet validated |
Signs & symptoms
Clinical features (HPO)
28 HPO clinical features (Orphanet curated; top 28 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000496 | Abnormality of eye movement | Very frequent (80-99%) |
| HP:0001251 | Ataxia | Very frequent (80-99%) |
| HP:0002066 | Gait ataxia | Very frequent (80-99%) |
| HP:0000572 | Visual loss | Frequent (30-79%) |
| HP:0000608 | Macular degeneration | Frequent (30-79%) |
| HP:0000640 | Gaze-evoked nystagmus | Frequent (30-79%) |
| HP:0002354 | Memory impairment | Frequent (30-79%) |
| HP:0007670 | Abnormal vestibulo-ocular reflex | Frequent (30-79%) |
| HP:0007772 | Impaired smooth pursuit | Frequent (30-79%) |
| HP:0008278 | Cerebellar cortical atrophy | Frequent (30-79%) |
| HP:0012332 | Abnormal autonomic nervous system physiology | Frequent (30-79%) |
| HP:0000338 | Hypomimic face | Occasional (5-29%) |
| HP:0000763 | Sensory neuropathy | Occasional (5-29%) |
| HP:0001257 | Spasticity | Occasional (5-29%) |
| HP:0001260 | Dysarthria | Occasional (5-29%) |
| HP:0001291 | Abnormal cranial nerve morphology | Occasional (5-29%) |
| HP:0001300 | Parkinsonism | Occasional (5-29%) |
| HP:0001347 | Hyperreflexia | Occasional (5-29%) |
| HP:0002015 | Dysphagia | Occasional (5-29%) |
| HP:0002063 | Rigidity | Occasional (5-29%) |
| HP:0002075 | Dysdiadochokinesis | Occasional (5-29%) |
| HP:0002304 | Akinesia | Occasional (5-29%) |
| HP:0002322 | Resting tremor | Occasional (5-29%) |
| HP:0002362 | Shuffling gait | Occasional (5-29%) |
| HP:0003487 | Babinski sign | Occasional (5-29%) |
| HP:0000020 | Urinary incontinence | Very rare (<1-4%) |
| HP:0000726 | Dementia | Very rare (<1-4%) |
| HP:0002080 | Intention tremor | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | sporadic adult-onset ataxia of unknown etiology |
| Mondo ID | MONDO:0016591 |
| Orphanet | 247234 |
| SNOMED CT | 734023003 |
| UMLS | C4518339 |
| MedGen | 1383968 |
| GARD | 0020654 |
| Is cancer (heuristic) | no |
Also known as: idiopathic late-onset cerebellar ataxia · SAOA
Disease family
Classification path: disease › human disease › disease by body system or component › nervous system disorder › atactic disorder › acquired ataxia › sporadic adult-onset ataxia of unknown etiology
Related subtypes (1): immune-mediated cerebellar ataxia
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
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01793168 | Not specified | RECRUITING | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.