Chorea acanthocytosis (CHAC)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Chorea acanthocytosis (CHAC). This is caused by mutations in the VPS13A gene. The gene encodes chorein. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the VPS13A gene
- The gene encodes chorein
- The transmission is autosomal recessive
Central clinical features
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Clinical differential diagnosis
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Differential diagnosis: disorders associated with acanthocytes
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Differential diagnosis: disorders associated with occasional acanthocytes
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References
- Walker S, Dad R, Thiruvahindrapuram B, et al. Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing. Neurol Genet. 2018; 4:e242.
- Kobal J, Dobson-Stone C, Danek A, Fidler V, Zvan B, Zaletel M. Chorea-acanthocytosis presenting as dystonia. Acta Clin Croat 2014; 53:107-112.
- Benninger F, Afawi Z, Korczyn AD, et al. Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation. Epilepsia 2016; 57:549-556.
- Al-Asmi A, Jansen AC, Badhwar A, et al. Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. Epilepsia 2005; 46:1256-1263.
- Weber J, Frings L, Rijntjes M, et al. Chorea-acanthocytosis presenting as autosomal recessive epilepsy in a family with a novel VPS13A mutation. Front Neurol 2019; 9:1168.
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