Abstract
A slowly progressive cerebellar syndrome associated with disturbed folate transfer across the choroid plexus is reported in an 18-year-old male who presented with incoordination of hands and feet at the Institute of Neurology, University Hospital of Nijmegen, The Netherlands.
Highlights
A slowly progressive cerebellar syndrome associated with disturbed folate transfer across the choroid plexus is reported in an 18-year-old male who presented with incoordination of hands and feet at the Institute of Neurology, University Hospital of Nijmegen, The Netherlands
A rapidly progressive bilateral sensorineural hearing loss had preceeded the onset of ataxia which was complicated by dysarthria and dysphagia, and was followed at 21 years, with muscle cramps and at 26 years, with a distal spinal muscular atrophy and pyramidal tract signs of hyperreflexia and Babinski reflexes
The serum (9.6-10.5 nmol/1) and red cell (371) folate levels were normal while the CSF folate was severely depleted (1.4-2.6 nmol/1; ref normal range 14-42)
Summary
Some children with typical signs of Friedreich's ataxia have familial vitamin E deficiency syndrome, with autosomal recessive inheritance. Identification and supplementation with vitamin E may halt progression of the ataxia.
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