autosomal recessive spinocerebellar ataxia 7
Findings
No curated finding names autosomal recessive spinocerebellar ataxia 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.
Definition from the Mondo Disease Ontology (MONDO:0012235), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Slowly progressive · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
28 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
- 6 of 6 reported patients
- Cerebellar atrophyHPOHP:0001272
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Oculomotor apraxiaHPOHP:0000657
- 1 of 1 reported patient
- 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.
- TPP1HGNC:2073
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: autosomal recessive spinocerebellar ataxia 7
- Also called
- autosomal recessive spinocerebellar ataxia type 7SCAR7spinocerebellar ataxia, autosomal recessive type 7