Patient (age in years) | Seizures | IQ | Neuroimaging | Hyperactive reflexes | Plantar inversion | Unsteady gait | Congenital spinocerebellar dysfunction |
---|---|---|---|---|---|---|---|
IV.7 (14) | Yes1-150 | < 20 | CT normal | Yes | Yes | +++ | Yes |
IV.5 (24) | Yes1-150 | 61 | MRI normal | Yes | Yes | + | Yes |
IV.2 (31) | NR | 63 | MRI normal | Yes | No | - | No |
III.5 (43) | Yes† | 60 | MRI cerebellar atrophy, corpus callosum hypoplasia | No | No | + | Possible |
III.8 (50) | NR | 57 | MRI cerebellar atrophy | Yes | No | + | Possible |
II.10 (68) | NR | 60 | MRI corpus callosum hypoplasia, cerebral and cerebellar lesions‡ | Yes | No | +++ | Possible |
II.2 (Died aged 30) | NR | MR§ | NR | NR | NR | NR | NR |
↵1-150 Infantile spasms, †tonic clonic seizures, ‡lesions of unknown aetiology, §prolonged residence in an institution for the mentally retarded. CT=computed tomography, MRI=magnetic resonance imaging, MR=mental retardation, NR=not reported, XLMR=X linked mental retardation, - not present, + mild, ++ moderate, +++ severe.