| Phenotype details |
1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 20y, 1st severe attack signs mild coma; PermCer status, no nystagmus, dysarthria, no ataxia, CT scan Selective atrophy of the sup. cerebellar vermis |