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Acta Neurologica Belgica
Published in: Acta Neurologica Belgica 4/2019

01-12-2019 | Letter to the Editor

X-linked adrenoleukodystrophy presenting as isolated spastic paraparesia

Authors: Zeynep Unluturk, Çağdaş Erdogan, Selma Tekin

Published in: Acta Neurologica Belgica | Issue 4/2019

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Excerpt

All patients with X-linked adrenoleukodystrophy (X-ALD) have mutations in ABCD1 gene, but they may have various different clinical phenotypes. The most frequent phenotype is adrenomyeloneuropathy (AMN) [1]. The first symptom of AMN usually occurs when male patients are between 20 and 30 years of age and neurological disability progresses slowly. But generally cognitive and adrenal involvement are a part of the clinical picture. It rarely may cause isolated spastic paraparesia without cognitive or adrenal involvement [2]. …
Literature
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2.
Kemp S, Berger J, Aubourg P (2012) X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta 1822:1465–1474CrossRef
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Chen Y, Zhang J, Wang J, Wang K (2018) A novel variant in ABCD1 gene presenting as adolescent-onset atypical adrenomyeloneuropathy with spastic ataxia. Front Neurol 23:9–271
4.
Kemp S, Berger J, Aubourg P (2012) X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. BBA Mol Basis Dis 1822(9):1465–1474CrossRef
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Chaudhry V, Moser HW, Cornblath DR (1996) Nerve conduction studies in adrenomyeloneuropathy. J Neurol Neurosurg Psychiatry 61:181–185CrossRef
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Teriitehau C et al (2007) Subtle brain abnormalities in adrenomyeloneuropathy. Journal de radiologie 88(7–8):957–961
Metadata
Title
X-linked adrenoleukodystrophy presenting as isolated spastic paraparesia
Authors
Zeynep Unluturk
Çağdaş Erdogan
Selma Tekin
Publication date
01-12-2019
Publisher
Springer International Publishing
Published in
Acta Neurologica Belgica / Issue 4/2019
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI
https://doi.org/10.1007/s13760-019-01085-8

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