spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
Findings
No curated finding names spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.
Definition from the Mondo Disease Ontology (MONDO:0011801), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
29 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.
- AreflexiaHPOHP:0001284
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- 3 of 3 reported patients
- Decreased number of peripheral myelinated nerve fibersHPOHP:0003380
- 1 of 1 reported patient
- Distal amyotrophyHPOHP:0003693
- 3 of 3 reported patients
- 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.
- TDP1HGNC:18884
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- Also called
- SCAN1spinocerebellar ataxia type 1 with axonal neuropathySpinocerebellar Ataxia with Axonal Neuropathy