Table 1.
Clinics and Neuroradiology in SCA38-Affected Individuals
|
Family SCA38-01-BS |
Family SCA38-02-CA |
Family SCA38-04-FR |
|||||||
|---|---|---|---|---|---|---|---|---|---|
| II-3 | III-1 | III-3 | III-6 | III-10 | IV-1 | IV-2 | IV-8 | II-2 | |
| Sex | male | female | female | female | female | female | male | female | female |
| Age at examination (years) | 81 | 77 | 79 | 59 | 60 | 47 | 45 | 40 | 63a |
| Age at onset of gait ataxia (years) | 45 | 40 | 34 | 45 | 38 | 38 | 38 | 35 | 51 |
| Disease duration (years) | 36 | 37 | 35 | 14 | 22 | 9 | 7 | 14 | 12 |
| Time from disease onset to wheelchair use (years) | 30 | NA | 25 | NA | NA | NA | NA | − | 10 |
| Initial symptom | walking difficulties | walking difficulties | walking difficulties | walking difficulties | walking difficulties | walking difficulties | walking difficulties | walking difficulties, nystagmus | walking difficulties |
| Neurology | |||||||||
| Gait ataxia | +++ | +++ | +++ | ++ | ++ | + | + | ++ | +++ |
| Dysarthria | ++ | + | + | − | + | − | − | + | ++ |
| Slow saccades | ++ | ++ | ++ | + | + | − | − | − | − |
| Nystagmus | + | +++ | +++ | +++ | +++ | ++ | ++ | + | − |
| Distal weakness | − | − | − | − | − | − | − | + | + |
| Myoclonus | − | − | − | − | − | − | − | − | − |
| Tremor | − | + | − | − | − | − | − | − | − |
| Peripheral neuropathy | ++ | NA | ++ | + | − | − | − | + | + |
| Extrapyramidal | − | − | − | − | − | − | − | − | − |
| Sensory loss | ++ | − | + | − | + | − | − | − | + |
| Brain MRI | |||||||||
| Vermian atrophy | +++ | NA | +++ | ++ | ++ | + | NA | + | ++ |
| Brainstem atrophy | − | NA | − | − | − | − | NA | − | − |
| Others Signs | |||||||||
| Cognitive impairment | − | − | − | − | − | − | − | − | psychiatric problems |
| Amino acid change | p.Gly230Val | p.Gly230Val | p.Gly230Val | p.Gly230Val | p.Gly230Val | p.Gly230Val | p.Gly230Val | p.Gly230Val | p.Leu72Val |
Abbreviations are as follows: −, none; +, mild; ++, moderate; +++, severe; and NA, not available.
a
Died at 65 years of age.