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Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation.

Authors
 Joon Won Kang  ;  Sang Mi Lee  ;  Kyo Yeon Koo  ;  Young Mock Lee  ;  Hyo Suk Nam  ;  Zhejiu Quan  ;  Hoon Chul Kang 
Citation
 YONSEI MEDICAL JOURNAL, Vol.55(4) : 1157-1160, 2014 
Journal Title
 YONSEI MEDICAL JOURNAL 
ISSN
 0513-5796 
Issue Date
2014
MeSH
ATP Binding Cassette Transporter, Sub-Family D, Member 1 ; ATP-Binding Cassette Transporters/genetics* ; Adrenoleukodystrophy/blood ; Adrenoleukodystrophy/genetics* ; Adult ; Cerebellar Diseases/blood ; Cerebellar Diseases/genetics* ; Fatty Acids/blood ; Humans ; Male ; Mutation
Keywords
ABCD1 ; X-linked adrenoleukodystrophy ; cerebellar ; very long chain fatty acid
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.
Files in This Item:
T201404784.pdf Download
DOI
10.3349/ymj.2014.55.4.1157
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Clinical Genetics (임상유전학과) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Goo, Kyo Yeon(구교연)
Nam, Hyo Suk(남효석) ORCID logo https://orcid.org/0000-0002-4415-3995
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/138532
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