title: Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation.
abstract: X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei. The proband, a 37-year-old man presented with bladder incontinence, slurred speech, dysmetria in all limbs, difficulties in balancing, and gait ataxia. Brain magnetic resonance imaging showed an isolated signal change of white matter around the dentate nucleus in cerebellum. With high level of very long chain fatty acid, gene study showed a de novo mutation in exon 1 at nucleotide position c.277_296dup20 (p.Ala100Cysfs*10) of the adenosine triphosphate-binding cassette D1 gene. It is advised to consider X-ALD as a differential diagnosis in patients with isolated cerebellar degeneration symptoms.
authors: Department of Pediatrics, Chungnam National University Hospital, Chungnam National University College of Medicine, Daejeon, Korea.
authors: Joon Won
authors: JW
authors: Kang
authors: Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
authors: Sang Mi
authors: SM
authors: Lee
authors: Department of Clinical Genetics, Yonsei University College of Medicine, Seoul, Korea.
authors: Kyo Yeon
authors: KY
authors: Koo
authors: Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
authors: Young-Mock
authors: YM
authors: Lee
authors: Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
authors: Hyo Suk
authors: HS
authors: Nam
authors: Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
authors: Zhejiu
authors: Z
authors: Quan
authors: Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. hipo0207@yuhs.ac.
authors: Hoon-Chul
authors: HC
authors: Kang
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000097:blood / Q000235:genetics*; D000328:Adult; D002526:Cerebellar Diseases / Q000097:blood / Q000235:genetics*; D005227:Fatty Acids / Q000097:blood; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D005227:Fatty Acids
keywords: ABCD1; X-linked adrenoleukodystrophy; cerebellar; very long chain fatty acid