Table 1. Clinical information on affected individuals.
| II-3 | II-4 | II-7 | II-8 | |
|---|---|---|---|---|
| Sex | Male | Male | Female | Male |
| Year of birth | 1949 | 1952 | 1956 | 1963 |
| Walked at age | Before 18 months | 18 months | Normal | Normal |
| Language development | Slow | Sentences at 4 years | Normal | Slow |
| Education/employment | Regular primary school at 7 years, special school from 12 years. Manual work until 35 years | Regular primary school at 7 years, special school from 10 years. No schooling after 13 years. Manual work until 35 years | Regular primary school at 7 years, later transferred to special school. Never employed | Special school from 9 years. Manual work until 40 years |
| Tonsillitis | Numerous tonsillectomy at 8 years | Numerous tonsillectomy at 6 years | NA | Numerous |
| Vision/eye findings | Impaired dark vision | RP at 39 years (Figure 2) | Optic disc pallor and loss of pigment in the periphery of the retina | RP identical to II-4. Impaired dark vision at 20 years |
| Behaviour | Sleep disturbance and aggressive behaviour recorded at 40 years. Stereotypic and compulsive walkinga | Anxious, restless and aggressive with stereotypic movements recorded at 39 years | Restless with compulsive walking. Aggressive in adult life | Emotionally unstable, psychotic episodes. Sleeping difficulties. Rapid cognitive decline last 2 years |
| Neuroimaging (CT or MRI) | NA | Cortical and central atrophy with periventricular white matter cysts (MRI) (Figure 3) | Cortical and central atrophy (CT) | Cortical and central atrophy with cysts in corpus callosum (MRI) |
| Other neurological findings | Gait ataxia, hyperreflexia and inverted plantar responses | Gait ataxia; dorsal column and peripheral sensory component. Plantar responses inverted | Gait ataxia. Deep tendon reflexes were hyperactive and plantar responses inverted | Gait ataxia. Deep tendon reflexes were hyperactive and plantar responses inverted |
| Other clinical findings | NA | NA | Epilepsy | NA |
Abbreviations: NA, not available; RP, retinitis pigmentosa; CT, computed tomography; MRI, magnetic resonance imaging.
a
For the past 20 years, he has been walking the same circle 12 h per day, touching doorframes that need a new coat of paint every second year.