Autosomal dominant spastic ataxia (SPAX1)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Autosomal dominant spastic ataxia (SPAX1). This is possibly caused by mutations in the VAMP1 gene on chromosome 12p. Fully referenced neurology checklist.
Genetics
- This is possibly caused by mutations in the VAMP1 gene on chromosome 12p
- The transmission is autosomal dominant
- The onset age is 10-20 years
Neurological features
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Ophthalmological features
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Investigations
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References
- Bourassa CV, Meijer IA, Merner ND, et al. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am J Hum Genet 2012; 91:548-552.
- Grewal KK, Stefanelli MG, Meijer IA, Hand CK, Rouleau GA, Ives EJ. A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy. Am J Med Genet A 2004; 131:249-254.
- Meijer IA, Hand CK, Grewal KK, Stefanelli MG, Ives EJ, Rouleau GA. A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. Am J Hum Genet 2002; 70:763-769.
Related checklists
- Autosomal recessive spastic ataxia 2 (SPAX2)
- Autosomal recessive spastic ataxia 3 (SPAX3)
- Autosomal recessive spastic ataxia 4 (SPAX4)
- Autosomal recessive spastic ataxia 5 (SPAX5)
- 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
