X-linked spinocerebellar ataxia type 4
Findings
No curated finding names X-linked spinocerebellar ataxia type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.
Definition from the Mondo Disease Ontology (MONDO:0010534), read 2026-09-29. CC BY 4.0.
Features
7 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.
- Progressive cerebellar ataxiaHPOHP:0002073
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- DementiaHPOHP:0000726
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Memory impairmentHPOHP:0002354
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Postural tremorHPO
Where it sits
- A kind of
Other names
3 names
Resolves to: X-linked spinocerebellar ataxia type 4
- Also called
- SCAX4spinocerebellar ataxia, X-linked type 4X-linked ataxia-dementia syndrome