Adult-onset cerebello-brainstem-dominant form of X-linked adrenoleukodystrophy with auditory pathway involvement: A case report-Reference-Cited by-同舟云学术

Adult-onset cerebello-brainstem-dominant form of X-linked adrenoleukodystrophy with auditory pathway involvement: A case report

Published:2024-12-25 Issue:1 Volume:27 Page:33-39
ISSN:1344-1817
Container-title:Tenri Medical Bulletin
language:en
Short-container-title:Tenri Med Bull

Author:

Noda Toshiyuki¹²,Okubo Gosuke¹,Shinde Akiyo³,Minami Akihiko⁴,Kawase Kango¹,Nakamura Yuri¹,Yamashita Naoki¹,Kim Hyunjin¹,Yasumura Sumika¹,Yasuo Shunsuke¹,Suzuki Mizue¹,Yuge Shunsuke¹,Ota Rie¹,Yokota Yusuke¹,Saito Ayako¹,Imaeda Masaki¹,Kanao Shotaro¹,Taniguchi Takanori¹,Kubo Takeshi¹,Suenaga Toshihiko³,Noma Satoshi¹

Affiliation:

1. Department of Radiology, Tenri Hospital

2. Department of Radiology, Kobe City Medical Center General Hospital

3. Department of Neurology, Tenri Hospital

4. Department of Radiology, Kyoto City Hospital

Publisher

Tenri Foundation, Tenri Institute of Medical Research

Link

https://www.jstage.jst.go.jp/article/tenrikiyo/27/1/27_27-009/_pdf

Reference26 articles.

1. 1) Mosser J, Douar AM, Sarde CO, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993;361:726-730.

2. 2) Moser HW, Moser AB, Frayer KK, et al. Adrenoleukodystrophy: Increased plasma content of saturated very long chain fatty acids. Neurology 1981;31:1241-1249.

3. 3) Contreras M, Mosser J, Mandel JL, et al. The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein. FEBS Lett 1994;344:211-215.

4. 4) Takemoto Y, Suzuki Y, Tamakoshi A, et al. Epidemiology of X-linked adrenoleukodystrophy in Japan. J Hum Genet 2002;47:590-593.

5. 5) Engelen M, Kemp S, de Visser M, et al. X-linked adrenoleukodystrophy (X-ALD): Clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis 2012;7:51.