spinocerebellar ataxia type 36
Findings
No curated finding names spinocerebellar ataxia type 36 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.
Definition from the Mondo Disease Ontology (MONDO:0013594), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Progressive
HPO, annotations 2026-09-02
Features
35 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.
- Cerebellar atrophyHPOHP:0001272
- 14 of 14 reported patients
- HyperreflexiaHPOHP:0001347
- 14 of 14 reported patients
- Occasional (5% to 29% of cases)
- Limb ataxiaHPOHP:0002070
- 14 of 14 reported patients
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- 14 of 14 reported patients
- Truncal ataxiaHPOHP:0002078
- 14 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Tongue atrophyHPOHP:0012473
- 13 of 14 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 23
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Blurred visionHPOHP:0000622
- Frequent (30% to 79% of cases)
- DysmetriaHPOHP:0001310
- Frequent (30% to 79% of cases)
- FasciculationsHPOHP:0002380
- 8 of 14 reported patients
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Loss of Purkinje cells in the cerebellar vermisHPOHP:0007001
- 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.
- NOP56HGNC:15911
- Definitive · Ambry Genetics · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: spinocerebellar ataxia type 36
- Also called
- AsidanSCA36