Table 1 Table 2
Patient | A-II-1 | A-II-2 | B-II-3 | C-II-1 | C-II-2 | D-II-3 |
|---|---|---|---|---|---|---|
Age of onset (y.o.) | Infantile | Infantile | 10 | 1 | 1 | 66 |
Gender | Male | Male | Female | Female | Female | Female |
Initial symptoms | Gait impairment | Gait impairment | Gait impairment | Mental retardation | Mental retardation | Gait impairment |
Pyramidal signs | + | + | + | + | + | + |
Cerebellar ataxia | + | + | + | − | − | − |
Extrapyramidal signs | − | − | + | − | − | + |
Mental retardation | + | + | + | + | + | − |
Cerebellar atrophy on brain MRI | + | + | + | + | + | − |
Modified rankin scale | 4 | 4 | 5 | 4 | 4 | 2 |
