Literature DB >> 30467354

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

Takuya Miyabayashi1, Tatsuhiro Ochiai2,3, Naoki Suzuki4, Masashi Aoki4, Takehiko Inui1,3, Yukimune Okubo1,3, Ryo Sato1,3, Noriko Togashi1, Hiroshi Takashima5, Hiroyuki Ishiura6, Shoji Tsuji6, Kishin Koh7, Yoshihisa Takiyama7, Kazuhiro Haginoya8,9.   

Abstract

The tropomyosin-receptor kinase fused gene (TFG) has recently been implicated in several distinct hereditary disorders, including the autosomal-recessive form of complicated hereditary spastic paraplegia called SPG57. Previously, three homozygous variants of the TFG gene were reported in five families with SPG57, in which early onset spastic paraplegia, optic atrophy, and peripheral neuropathy were variably identified. Here, we present the first Japanese patient with SPG57, and have added a homozygous p.Ile66Thr variant as the fourth SPG57 genotype.

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Year:  2018        PMID： 30467354     DOI： 10.1038/s10038-018-0538-4

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  11 in total

1.  Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

Authors:  Gaurav V Harlalka; Meriel E McEntagart; Neerja Gupta; Anna E Skrzypiec; Mariusz W Mucha; Barry A Chioza; Michael A Simpson; Ajith Sreekantan-Nair; Anthony Pereira; Sven Günther; Amir Jahic; Hamid Modarres; Heather Moore-Barton; Richard C Trembath; Madhulika Kabra; Emma L Baple; Seema Thakur; Michael A Patton; Christian Beetz; Robert Pawlak; Andrew H Crosby
Journal:  Hum Mutat       Date:  2016-08-30       Impact factor: 4.878

2.  A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function.

Authors:  Pei-Chien Tsai; Yen-Hua Huang; Yuh-Cherng Guo; Hung-Ta Wu; Kon-Ping Lin; Yu-Shuen Tsai; Yi-Chu Liao; Yo-Tsen Liu; Tze-Tze Liu; Lung-Sen Kao; Shaw-Fang Yet; Ming-Ji Fann; Bing-Wen Soong; Yi-Chung Lee
Journal:  Neurology       Date:  2014-08-06       Impact factor: 9.910

3.  The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.

Authors:  Hiroyuki Ishiura; Wataru Sako; Mari Yoshida; Toshitaka Kawarai; Osamu Tanabe; Jun Goto; Yuji Takahashi; Hidetoshi Date; Jun Mitsui; Budrul Ahsan; Yaeko Ichikawa; Atsushi Iwata; Hiide Yoshino; Yuishin Izumi; Koji Fujita; Kouji Maeda; Satoshi Goto; Hidetaka Koizumi; Ryoma Morigaki; Masako Ikemura; Naoko Yamauchi; Shigeo Murayama; Garth A Nicholson; Hidefumi Ito; Gen Sobue; Masanori Nakagawa; Ryuji Kaji; Shoji Tsuji
Journal:  Am J Hum Genet       Date:  2012-08-10       Impact factor: 11.025

4.  Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.

Authors:  Christian Beetz; Adam Johnson; Amber L Schuh; Seema Thakur; Rita-Eva Varga; Thomas Fothergill; Nicole Hertel; Ewa Bomba-Warczak; Holger Thiele; Gudrun Nürnberg; Janine Altmüller; Renu Saxena; Edwin R Chapman; Erik W Dent; Peter Nürnberg; Anjon Audhya
Journal:  Proc Natl Acad Sci U S A       Date:  2013-03-11       Impact factor: 11.205

5.  Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

Authors:  Liena E O Elsayed; Inaam N Mohammed; Ahlam A A Hamed; Maha A Elseed; Adam Johnson; Mathilde Mairey; Hassab Elrasoul S A Mohamed; Mohamed N Idris; Mustafa A M Salih; Sarah M El-Sadig; Mahmoud E Koko; Ashraf Y O Mohamed; Laure Raymond; Marie Coutelier; Frédéric Darios; Rayan A Siddig; Ahmed K M A Ahmed; Arwa M A Babai; Hiba M O Malik; Zulfa M B M Omer; Eman O E Mohamed; Hanan B Eltahir; Nasr Aldin A Magboul; Elfatih E Bushara; Abdelrahman Elnour; Salah M Abdel Rahim; Abdelmoneim Alattaya; Mustafa I Elbashir; Muntaser E Ibrahim; Alexandra Durr; Anjon Audhya; Alexis Brice; Ammar E Ahmed; Giovanni Stevanin
Journal:  Eur J Hum Genet       Date:  2016-09-07       Impact factor: 4.246

6.  Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations.

Authors:  Marzieh Khani; Hosein Shamshiri; Afagh Alavi; Shahriar Nafissi; Elahe Elahi
Journal:  J Neurol Sci       Date:  2016-08-17       Impact factor: 3.181

Review 7.  TFG-Related Neurologic Disorders: New Insights Into Relationships Between Endoplasmic Reticulum and Neurodegeneration.

Authors:  Takuya Yagi; Daisuke Ito; Norihiro Suzuki
Journal:  J Neuropathol Exp Neurol       Date:  2016-03-04       Impact factor: 3.685

8.  Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy.

Authors:  Z Zhao; A Hashiguchi; J Hu; Y Sakiyama; Y Okamoto; S Tokunaga; L Zhu; H Shen; H Takashima
Journal:  Neurology       Date:  2012-05-09       Impact factor: 9.910

Review 9.  Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms.

Authors:  Temistocle Lo Giudice; Federica Lombardi; Filippo Maria Santorelli; Toshitaka Kawarai; Antonio Orlacchio
Journal:  Exp Neurol       Date:  2014-06-20       Impact factor: 5.330

10.  TFG-1 function in protein secretion and oncogenesis.

Authors:  Kristen Witte; Amber L Schuh; Jan Hegermann; Ali Sarkeshik; Jonathan R Mayers; Katrin Schwarze; John R Yates; Stefan Eimer; Anjon Audhya
Journal:  Nat Cell Biol       Date:  2011-04-10       Impact factor: 28.824
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  2 in total

1.  TFG regulates secretory and endosomal sorting pathways in neurons to promote their activity and maintenance.

Authors:  Jennifer L Peotter; Iryna Pustova; Molly M Lettman; Shalini Shatadal; Mazdak M Bradberry; Allison D Winter-Reed; Maya Charan; Erin E Sharkey; James R Alvin; Alyssa M Bren; Annika K Oie; Edwin R Chapman; M Shahriar Salamat; Anjon Audhya
Journal:  Proc Natl Acad Sci U S A       Date:  2022-09-26       Impact factor: 12.779

2.  Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia.

Authors:  Yasuko Odake; Kishin Koh; Yoshihisa Takiyama; Hiroyuki Ishiura; Shoji Tsuji; Masahito Yamada; Mitsuhiro Yoshita
Journal:  Neurol Genet       Date:  2020-09-08
  2 in total

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