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Table 1 Comparisons of clinical findings among SCA17 cases with 41 CAG/CCG repeats

From: Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier

Age at onset Signs and symptoms at onset Psychiatric symptoms MRI PET Agea Neurological examination Reference
54 Personality changes increased frequency of falls Depressive status, personality changes Advanced cerebellar atrophy Severely decreased glucose metabolism of both cerebellar hemispheres and putamen 63 Gait ataxia, dysdiadochokinesia and dysmetria, dysphagia, dysarthria and abnormal saccadic pursuit, severe axial asynergy during postural changes, choreiform dyskinesias Present study
50 Gait difficulties increased frequency of falls No Cerebellar atrophy na 75 Dysarthric speech, limb ataxia, gait ataxia, and brisk reflexes Nanda et al., [9]
60 Involuntary movements of the limbs Depressive status na na 63 Generalized choreic movements Alibardi et al, [11]
59 Dysarthria and gait ataxia No Cerebellar atrophy na na Pure cerebellar syndrome Doherty et al., [12]
61 Hand tremor and progressive gait disturbance No No cerebellar atrophy Markedly decreased DAT density in the bilateral putamen with anteroposterior gradient 64 Flexed posture and a short-step gait with a decreased bilateral arm swing resting-type hand tremor and bradykinesia. Choreic mixed with stereotypic and dystonic movements in perioral area and both hands Park et al., [13]
  1. aAt neurological examination; na: not available