Autosomal recessive spastic ataxia 5 (SPAX5)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Autosomal recessive spastic ataxia 5 (SPAX5). This is caused by mutations in the AFG3L2 gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the AFG3L2 gene
- It is an early onset disorder
Clinical features
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Magnetic resonance imaging (MRI)
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Synonym
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References
Related checklists
- Autosomal dominant spastic ataxia (SPAX1)
- Autosomal recessive spastic ataxia 2 (SPAX2)
- Autosomal recessive spastic ataxia 3 (SPAX3)
- Autosomal recessive spastic ataxia 4 (SPAX4)
- Autosomal recessive spastic ataxia 6 (SPAX6)
- Autosomal dominant spastic ataxia 7 (SPAX7)
- Autosomal recessive spastic ataxia 8 (SPAX8)
- Galloway Mowat syndrome (GAMOS)
- PHARC syndrome
- Spastic ataxias: differential diagnosis
