A Japanese SPG4 Patient with a Confirmed <i>De Novo</i> Mutation of the <i>SPAST</i> Gene-Reference-Cited by-同舟云学术

A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene

Published:2020-09-15 Issue:18 Volume:59 Page:2311-2315
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Nan Haitian¹,Okamoto Kensho²,Gao Lihua¹,Morishima Yuto¹,Ichinose Yuta¹,Koh Kishin¹,Hashiyada Masaki³,Adachi Noboru⁴,Takiyama Yoshihisa¹

Affiliation:

1. Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan

2. Department of Neurology, Ehime Prefectural Central Hospital, Japan

3. Department of Legal Medicine, Kansai Medical University, Japan

4. Department of Legal Medicine, Graduate School of Medical Sciences, University of Yamanashi, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/59/18/59_4599-20/_pdf

Reference19 articles.

1. 1. Fink JK. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 6: 65-76, 2006.

2. 2. Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol 261: 518-539, 2014.

3. 3. Schieving JH, de Bot ST, van de Pol LA, et al. De novo SPAST mutations may cause a complex SPG4 phenotype. Brain 142: e31, 2019.

4. 4. Blair MA, Riddle ME, Wells JF, Breviu BA, Hedera P. Infantile onset of hereditary spastic paraplegia poorly predicts the genotype. Pediatr Neurol 36: 382-386, 2007.

5. 5. Burguez D, Polese-Bonatto M, Scudeiro LAJ, et al. Clinical and molecular characterization of hereditary spastic paraplegias: a next-generation sequencing panel approach. J Neurol Sci 383: 18-25, 2017.

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