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Table 1 Demographic and clinical features of the index family carrying the heterozygous STUB1 mutation

From: Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48)

  III:1 III:2 II:1 II:2 II:3 II:4 II:5 II:6 II:7 II:8 I:1 I:2
Current age (year) 30 28 66 65 63 62 55 59 57 55 60 70
Onset age (year) 23 24 N.A N.A 38 N.A 30 N.A N.A N.A 30 N.A
Age at death (year) N.A N.A N.A N.A 64 N.A 55 N.A N.A N.A 60 N.A
Sex M M F M F F F F M M M F
Cerebellar dysfunction related symptoms
 Ataxia  +  +  +   +   +  +  +   +  +  +   +  +  +  N.A
 Dysarthria  +  +   +   +  +   +  +   +  +  +  N.A
 Dysphagia  +   +  +   +  +   +  +  N.A
 Hands dysmetria  +  +   +  +   +  +   +   +  +  N.A
Cognitive-affective symptoms
 MMSE 28 28 30 30 24 29 N.A 30 30 30 N.A N.A
 Depression  +   +   +  +   +  +   +  + 
 Anxiety  
Associated symptoms             
 Polyneuropathy N.A N.A
Activities of daily living             
 Waling disability Crutches Wo aid Well N/A WC Well WC Well Well Well WC Well
 Dependency P I I I T I T I I I T I
  1. M male; F female; MMSE Mini-Mental State Examination; wo aid without aid; WC wheelchair bounded; P partially dependent; I independent; T totally dependent