A heterozygous grid2 mutation in autosomal dominant cerebellar ataxia

HIGHLIGHTS

SUMMARY

I-2 II-1 II-2 II-3 7 patients from_[9] Age at examination 32-68 (mean 44.4) Age of onset 10-46 (mean 24.8) Symptoms at onset Gait disturbance Gait disturbance Gait disturbance Dysarthria Gait disturbance Gait instability: 4 persons Hearing loss: 1 person None: 2 persons Total SARA score at first (age, y.o.) Cognitive impairment Hearing loss Cerebral MRI NA Cerebellar atrophy NA Cerebellar atrophy Normal: 2 persons Cerebellar atrophy: 1 person Vermian atrophy: 1 person NA: 3 persons NA not available. transmembrane segments (M1, M3, and M4 . . .

 



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