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A 17-year-old male, a single child of non-consanguineous parentage, presented with non-progressive gait ataxia, which he had had since childhood. He had suffered mild perinatal hypoxic injury, not requiring prolonged intensive care. Motor milestones were acquired late; he walked independently only from the age of three and swayed while walking. Despite moderate mental retardation, he acquired other milestones normally and was independent for activities of daily living. General examination was normal. He had a Mini-Mental Status Examination score of 25/30, slurred, scanning and staccato speech, normal eye movements, hypotonia and significant gait and truncal ataxia.
Magnetic resonance images showed …
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