spinocerebellar ataxia type 15/16
Findings
No curated finding names spinocerebellar ataxia type 15/16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.
Definition from the Mondo Disease Ontology (MONDO:0011694), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Young adult onset
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.
- Broad-based gaitHPOHP:0002136
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Cerebellar cortical atrophyHPOHP:0008278
- 9 of 9 reported patients
- Cerebellar vermis atrophyHPOHP:0006855
- 9 of 9 reported patients
- DyskinesiaHPOHP:0100660
- 1 of 1 reported patient
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
Show the remaining 19
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Hypermetric saccadesHPOHP:0007338
- 7 of 9 reported patients
- Hypometric saccadesHPOHP:0000571
- 7 of 9 reported patients
- Postural tremorHPOHP:0002174
- 7 of 9 reported patients
- Gaze-evoked nystagmusHPOHP:0000640
- 9 of 13 reported patients
- Action tremorHPOHP:0002345
- Frequent (30% to 79% of cases)
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.
- ITPR1HGNC:6180
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: spinocerebellar ataxia type 15/16
- Also called
- SCA15/16SCAR16spinocerebellar ataxia type 15spinocerebellar ataxia type 16