title: Adrenoleukodystrophy manifesting as spinocerebellar degeneration.
abstract: X-linked adrenoleukodystrophy (XALD) is an inherited disorder of peroxisomal metabolism. Atypical presentations have been occasionally reported in literature. However, extrapyramidal and cerebellar manifestations are distinctly rare. We report a patient of X-linked adrenoleukodystrophy with cranial and cervical dystonia and neurological presentation resembling spinocerebellar degeneration followed by a brief review of relevant literature.
authors.affiliation: Department of Neurology, PGIMER, Chandigarh, Punjab, India.
authors.forename: Sanjay
authors.initials: S
authors.lastname: Mishra
authors.forename: Manish
authors.initials: M
authors.lastname: Modi
authors.forename: Chandi P
authors.initials: CP
authors.lastname: Das
authors.forename: Sudesh
authors.initials: S
authors.lastname: Prabhakar
mesh_terms: D000326:Adrenoleukodystrophy / Q000473:pathology*; D000328:Adult; D001933:Brain Stem / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013132:Spinocerebellar Degenerations / Q000473:pathology*