spinocerebellar ataxia type 25
Findings
No curated finding names spinocerebellar ataxia type 25 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.
Definition from the Mondo Disease Ontology (MONDO:0012103), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 11 of 11 reported patients
- Decreased number of peripheral myelinated nerve fibersHPOHP:0003380
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 9 of 10 reported patients
- Abolished vibration senseHPOHP:0006944
- 4 of 5 reported patients
- Progressive cerebellar ataxiaHPOHP:0002073
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- 3 of 4 reported patients
- Areflexia of lower limbsHPO
Show the remaining 19
- Distal sensory impairmentHPOHP:0002936
- Frequent (30% to 79% of cases)
- EMG: neuropathic changesHPOHP:0003445
- Frequent (30% to 79% of cases)
- Facial ticsHPOHP:0011468
- 1 of 11 reported patients
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- Frequent (30% to 79% of cases)
- Impaired distal tactile sensationHPOHP:0006937
- Frequent (30% to 79% of cases)
- Impaired pain sensationHPOHP:0007328
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PNPT1HGNC:23166
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2022
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 25
- Also called
- SCA25