Literature DB >> 32289521

Adult-onset neuronal intranuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients.

Shen-Yang Lim1, Hiroyuki Ishiura2, Norlisah Ramli3, Shota Shibata2, M Asem Almansour2, Ai Huey Tan4, Henry Houlden5, Anthony E Lang6, Shoji Tsuji7.   

Abstract

Two ethnic Chinese men with clinico-radiologic features of Fragile X-associated tremor-ataxia syndrome (FXTAS) were found on genetic testing to have neuronal intranuclear inclusion disease (NIID), highlighting that NIID should be considered in the differential diagnosis of FXTAS. NIID may also be much more common than FXTAS in certain Asian populations.
Copyright © 2020 Elsevier Ltd. All rights reserved.

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Year:  2020        PMID： 32289521     DOI： 10.1016/j.parkreldis.2020.03.025

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


  5 in total

Review 1.  The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review.

Authors:  Xiu-Rong Huang; Bei-Sha Tang; Peng Jin; Ji-Feng Guo
Journal:  Mol Neurobiol       Date:  2021-10-31       Impact factor: 5.590

2.  Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases.

Authors:  Manon Boivin; Jianwen Deng; Véronique Pfister; Erwan Grandgirard; Mustapha Oulad-Abdelghani; Bastien Morlet; Frank Ruffenach; Luc Negroni; Pascale Koebel; Hugues Jacob; Fabrice Riet; Anke A Dijkstra; Kathryn McFadden; Wiley A Clayton; Daojun Hong; Hiroaki Miyahara; Yasushi Iwasaki; Jun Sone; Zhaoxia Wang; Nicolas Charlet-Berguerand
Journal:  Neuron       Date:  2021-04-21       Impact factor: 17.173

Review 3.  Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?

Authors:  Manon Boivin; Nicolas Charlet-Berguerand
Journal:  Front Genet       Date:  2022-02-28       Impact factor: 4.599

4.  Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan.

Authors:  Yujiro Higuchi; Masahiro Ando; Akiko Yoshimura; Satoshi Hakotani; Yuki Koba; Yusuke Sakiyama; Yu Hiramatsu; Yuichi Tashiro; Yoshimitsu Maki; Akihiro Hashiguchi; Junhui Yuan; Yuji Okamoto; Eiji Matsuura; Hiroshi Takashima
Journal:  Cerebellum       Date:  2021-09-09       Impact factor: 3.648

5.  Therapeutic Development for CGG Repeat Expansion-Associated Neurodegeneration.

Authors:  Keqin Xu; Yujing Li; Emily G Allen; Peng Jin
Journal:  Front Cell Neurosci       Date:  2021-05-12       Impact factor: 5.505
  5 in total

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