From: Intrafamilial phenotypic variation in spinocerebellar ataxia type 23
Family No. | 1 | 1 | 1 | 1 | 2 |
---|---|---|---|---|---|
Pedigree number/Sex | II-1 (male) | II-4 (male) | II-8 (male) | I-2 (female) | II-1 (male) |
Age at examination (years) | 62 | 59 | 52 | 88 | 60 |
Age at onset (years) | 45 | 36 | 40 | -a | 30 |
Disease duration (years) | 17 | 23 | 12 | -a | 30 |
Initial symptom | Unsteadiness | Dysarthria | Dysarthria | -a | Dysarthria |
Walking ability | Unaided | Wheelchair | Unaided | Crutches/cane | Unaided |
SARA | 5.0/40.0 | 19.0/40.0 | 9.0/40.0 | 14.5/40.0 | 7.5/40.0 |
Dysarthria | (++) | (+++) | (+) | (−) | (+) |
EOM disorder | Saccadic | (−) | (−) | (−) | Gaze nystagmus |
Tremor | Resting tremor(−) | (−) | Cerebellar tremor | (−) | Cerebellar tremor |
Parkinsonism | (+)b | (−) | (−) | (−) | (−) |
Deep tendon reflex | Increased (U/L) | Increased (L) | Increased (L) | Normal | Decreased (U/L) |
Babinski sign | (−) | (−) | (−) | (−) | (−) |
Muscle atrophy & weakness | (−) | (−) | (−) | (−) | (−) |
Sensory deficits | (−) | (−) | (−) | NA | (−) |
Urinary symptoms | (−) | (−) | (−) | (−) | (−) |
<Brain MRI findings> | |||||
Atrophy of the cerebrum | (−) | (−) | (−) | (−) | (−) |
cerebellumc | (+) | (++) | (++) | (++) | (++) |
brainstem (pons) | (−) | (−) | (−) | (−) | (−) |
middle cerebellar peduncle | (−) | (−) | (−) | (−) | (++) |
Hyperintense lateral putaminal rim | (+) | (−) | (−) | (−) | (−) |
Hot cross bun sign | (−) | (−) | (−) | (−) | (−) |
PDYN (c.644G > A) genotype | Heterozygote | Homozygote | Heterozygote | Heterozygote | Heterozygote |