A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy-Reference-Cited by-同舟云学术

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

Published:2018-11-22 Issue:2 Volume:64 Page:171-176
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Miyabayashi Takuya,Ochiai Tatsuhiro,Suzuki Naoki^ORCID,Aoki Masashi,Inui Takehiko,Okubo Yukimune,Sato Ryo,Togashi Noriko,Takashima Hiroshi,Ishiura Hiroyuki^ORCID,Tsuji Shoji^ORCID,Koh Kishin,Takiyama Yoshihisa,Haginoya Kazuhiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-018-0538-4.pdf

Reference11 articles.

1. Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol. 2014;261:518–39.

2. Ishiura H, Sako W, Yoshida M, Kawarai T, Tanabe O, Goto J, et al. The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. Am J Hum Genet. 2012;91:320–9.

3. Khani M, Shamshiri H, Alavi A, Nafissi S, Elahi E. Identification of novel TFG mutation in HMSN-P pedigree: emphasis on variable clinical presentations. J Neurol Sci. 2016;369:318–23.

4. Tsai PC, Huang YH, Guo YC, Wu HT, Lin KP, Tsai YS, et al. A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function. Neurology. 2014;83:903–12.

5. Tariq H, Naz S. TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum. Neurogenetics. 2017;18:105–9.

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1. Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia;Annals of Clinical and Translational Neurology;2024-06-04

2. TFG regulates secretory and endosomal sorting pathways in neurons to promote their activity and maintenance;Proceedings of the National Academy of Sciences;2022-09-26

3. Spastic Paraplegia Type 57: A Cerebral Palsy Mimic;Journal of Pediatric Neurology;2021-07-23

4. Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature;Journal of Human Genetics;2021-03-25

5. Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia;Neurology Genetics;2020-09-08