A Case of Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in <i>ABCD1</i>-Reference-Cited by-同舟云学术

A Case of Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in <i>ABCD1</i>

Published:2023 Issue: Volume: Page:
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Takegami Naoki¹,Matsukawa Takashi¹,Hamada Masashi¹,Tanifuji Shuichi¹,Tamura Takayuki¹,Yamaguchi-Takegami Nanaka¹,Ishiura Hiroyuki¹,Mitsui Jun²,Sakuishi Kaori¹,Tsuji Shoji³,Toda Tatsushi¹

Affiliation:

1. Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan

2. Department of Precision Medicine Neurology, Graduate School of Medicine, The University of Tokyo, Japan

3. Institute of Medical Genomics, International University of Health and Welfare, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_2240-23/_pdf

Reference24 articles.

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2. 2. van Geel BM, Assies J, Wanders RJ, Barth PG. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. J Neurol Neurosurg Psychiatry 63: 4-14, 1997.

3. 3. Berger J, Molzer B, Faé I, Bernheimer H. X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Biochem Biophys Res Commun 205: 1638-1643, 1994.

4. 4. Matsukawa T, Asheuer M, Takahashi Y, Goto J, Suzuki Y, Shimozawa N, et al. Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. Neurogenetics 12: 41-50, 2011.

5. 5. Takano H, Koike R, Onodera O, Sasaki R, Tsuji S. Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy. Arch Neurol 56: 295-300, 1999.