spinocerebellar ataxia type 35
Findings
No curated finding names spinocerebellar ataxia type 35 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.
Definition from the Mondo Disease Ontology (MONDO:0013485), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Slowly progressive
HPO, annotations 2026-09-02
Features
20 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
- Cerebellar atrophyHPOHP:0001272
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- DysmetriaHPOHP:0001310
- 11 of 11 reported patients
- Frequent (30% to 79% of cases)
- Pseudobulbar paralysisHPOHP:0007024
- 11 of 11 reported patients
- Occasional (5% to 29% of cases)
- DysarthriaHPOHP:0001260
- 10 of 11 reported patients
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- 10 of 11 reported patients
Show the remaining 8
- Limb ataxiaHPOHP:0002070
- Frequent (30% to 79% of cases)
- Dysmetric saccadesHPOHP:0000641
- Occasional (5% to 29% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Occasional (5% to 29% of cases)
- Neck muscle weaknessHPOHP:0000467
- Occasional (5% to 29% of cases)
- TorticollisHPOHP:0000473
- 4 of 11 reported patients
- Occasional (5% to 29% of cases)
- Impaired proprioceptionHPOHP:0010831
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.
- TGM6HGNC:16255
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Illumina · Autosomal dominant · 2020
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 35
- Also called
- SCA35