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] |