Literature DB >> 16804268

Adrenoleukodystrophy manifesting as spinocerebellar degeneration.

Sanjay Mishra1, Manish Modi, Chandi P Das, Sudesh Prabhakar.   

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.

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Year:  2006        PMID: 16804268

Source DB:  PubMed          Journal:  Neurol India        ISSN: 0028-3886            Impact factor:   2.117


  5 in total

1.  Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.

Authors:  Kotaro Ogaki; Shunsuke Koga; Naoya Aoki; Wenlang Lin; Kinuko Suzuki; Owen A Ross; Dennis W Dickson
Journal:  Neuropathology       Date:  2015-07-31       Impact factor: 1.906

2.  Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.

Authors:  Anthony Cheung; Catherine Argyriou; Christine Yergeau; Yasmin D'Souza; Émilie Riou; Sébastien Lévesque; Gerald Raymond; Mebratu Daba; Irakli Rtskhiladze; Tinatin Tkemaladze; Laura Adang; Roberta La Piana; Geneviève Bernard; Nancy Braverman
Journal:  Neurogenetics       Date:  2022-02-02       Impact factor: 2.660

3.  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
Journal:  Yonsei Med J       Date:  2014-07       Impact factor: 2.759

4.  A case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction.

Authors:  Seunguk Jung; Jong Won Chung; Ji Young Yun; Han-Joon Kim; Beom Seok Jeon
Journal:  J Mov Disord       Date:  2009-10-30

5.  Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia.

Authors:  Ying-Hao Chen; Yi-Chung Lee; Yu-Shuen Tsai; Yuh-Cherng Guo; Cheng-Tsung Hsiao; Pei-Chien Tsai; Jin-An Huang; Yi-Chu Liao; Bing-Wen Soong
Journal:  PLoS One       Date:  2017-05-08       Impact factor: 3.240

  5 in total

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