Literature DB >> 27473499

C9ORF72 repeat expansions in Chinese patients with Parkinson's disease and multiple system atrophy.

Xueping Chen1, Yongping Chen1, Qianqian Wei1, Ruwei Ou1, Bei Cao1, Bi Zhao1, Hui-Fang Shang2.   

Abstract

The hexanucleotide repeat expansions in the C9ORF72 gene has been found in some patients with atypical Parkinsonism. A number of hexanucleotide repeats were examined in a Chinese population, including 619 patients with Parkinson's disease (PD), 381 patients with multiple system atrophy (MSA), and 632 healthy controls. We did not identify any pathogenic repeat expansions in either patients or controls, and any associations between repeats number and disease risk. C9ORF72 expansions are not involved the wider spectrum of Parkinsonism.

Entities:  

Keywords:  C9ORF72; Genetic association; Multiple system atrophy; Parkinsonism; Parkinson’s disease; Risk factor

Mesh：

Substances：

Year:  2016        PMID： 27473499     DOI： 10.1007/s00702-016-1598-2

Source DB:  PubMed          Journal:  J Neural Transm (Vienna)        ISSN： 0300-9564            Impact factor:   3.575


  29 in total

1.  Investigation of C9orf72 repeat expansions in Parkinson's disease.

Authors:  Hussein Daoud; Anne Noreau; Daniel Rochefort; Gabriel Paquin-Lanthier; Maude Turcotte Gauthier; Pierre Provencher; Emmanuelle Pourcher; Nicolas Dupré; Sylvain Chouinard; Nicolas Jodoin; Valérie Soland; Edward A Fon; Patrick A Dion; Guy A Rouleau
Journal:  Neurobiol Aging       Date:  2012-12-27       Impact factor: 4.673

2.  Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.

Authors:  Rodolfo Savica; Anahita Adeli; Prashanthi Vemuri; David S Knopman; Mariely Dejesus-Hernandez; Rosa Rademakers; Julie A Fields; Jennifer Whitwell; Clifford R Jack; Val Lowe; Ronald C Petersen; Bradley F Boeve
Journal:  Arch Neurol       Date:  2012-09

3.  Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.

Authors:  S G Lindquist; M Duno; M Batbayli; A Puschmann; H Braendgaard; S Mardosiene; K Svenstrup; L H Pinborg; K Vestergaard; L E Hjermind; J Stokholm; B B Andersen; P Johannsen; J E Nielsen
Journal:  Clin Genet       Date:  2012-07-04       Impact factor: 4.438

4.  Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.

Authors:  Karen Nuytemans; Vanessa Inchausti; Gary W Beecham; Liyong Wang; Dennis W Dickson; John Q Trojanowski; Virginia M-Y Lee; Deborah C Mash; Matthew P Frosch; Tatiana M Foroud; Lawrence S Honig; Thomas J Montine; Ted M Dawson; Eden R Martin; William K Scott; Jeffery M Vance
Journal:  Mov Disord       Date:  2014-02-26       Impact factor: 10.338

5.  Parkinson disease is not associated with C9ORF72 repeat expansions.

Authors:  Matthew B Harms; Drexel Neumann; Bruno A Benitez; Breanna Cooper; David Carrell; Brad A Racette; Joel S Perlmutter; Alison Goate; Carlos Cruchaga
Journal:  Neurobiol Aging       Date:  2012-10-30       Impact factor: 4.673

6.  Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome.

Authors:  Mariely Dejesus-Hernandez; Sruti Rayaprolu; Alexandra I Soto-Ortolaza; Nicola J Rutherford; Michael G Heckman; Sharleen Traynor; Audrey Strongosky; Neill Graff-Radford; Jay Van Gerpen; Ryan J Uitti; Jerry J Shih; Siong-Chi Lin; Zbigniew K Wszolek; Rosa Rademakers; Owen A Ross
Journal:  Parkinsonism Relat Disord       Date:  2012-10-18       Impact factor: 4.891

7.  The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.

Authors:  Bradley N Smith; Stephen Newhouse; Aleksey Shatunov; Caroline Vance; Simon Topp; Lauren Johnson; Jack Miller; Younbok Lee; Claire Troakes; Kirsten M Scott; Ashley Jones; Ian Gray; Jamie Wright; Tibor Hortobágyi; Safa Al-Sarraj; Boris Rogelj; John Powell; Michelle Lupton; Simon Lovestone; Peter C Sapp; Markus Weber; Peter J Nestor; Helenius J Schelhaas; Anneloor Alm Ten Asbroek; Vincenzo Silani; Cinzia Gellera; Franco Taroni; Nicola Ticozzi; Leonard Van den Berg; Jan Veldink; Phillip Van Damme; Wim Robberecht; Pamela J Shaw; Janine Kirby; Hardev Pall; Karen E Morrison; Alex Morris; Jacqueline de Belleroche; J M B Vianney de Jong; Frank Baas; Peter M Andersen; John Landers; Robert H Brown; Michael E Weale; Ammar Al-Chalabi; Christopher E Shaw
Journal:  Eur J Hum Genet       Date:  2012-06-13       Impact factor: 4.246

8.  C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.

Authors:  Johnathan Cooper-Knock; Antonina Frolov; J Robin Highley; Gavin Charlesworth; Janine Kirby; Antonio Milano; Judith Hartley; Paul G Ince; Christopher J McDermott; Tammaryn Lashley; Tamas Revesz; Pamela J Shaw; Nicholas W Wood; Oliver Bandmann
Journal:  Neurology       Date:  2013-07-24       Impact factor: 9.910

9.  Erratum to "The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism" [Neurobiol. Aging 36 (2015) 1221.e1-1221.e6].

Authors:  Lucia V Schottlaender; James M Polke; Helen Ling; Nicola D MacDoanld; Arianna Tucci; Tina Nanji; Alan Pittman; Rohan de Silva; Janice L Holton; Tamas Revesz; Mary G Sweeney; Andy B Singleton; Andrew J Lees; Kailash P Bhatia; Henry Houlden
Journal:  Neurobiol Aging       Date:  2015-03-19       Impact factor: 4.673

10.  C9orf72 repeat expansions are restricted to the ALS-FTD spectrum.

Authors:  Nicola Ticozzi; Cinzia Tiloca; Daniela Calini; Stella Gagliardi; Alessandra Altieri; Claudia Colombrita; Cristina Cereda; Antonia Ratti; Gianni Pezzoli; Barbara Borroni; Stefano Goldwurm; Alessandro Padovani; Vincenzo Silani
Journal:  Neurobiol Aging       Date:  2013-10-02       Impact factor: 4.673
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  7 in total

Review 1.  Multiple System Atrophy - State of the Art.

Authors:  Brice Laurens; Sylvain Vergnet; Miguel Cuina Lopez; Alexandra Foubert-Samier; François Tison; Pierre-Olivier Fernagut; Wassilios G Meissner
Journal:  Curr Neurol Neurosci Rep       Date:  2017-05       Impact factor: 5.081

Review 2.  C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.

Authors:  Thomas Bourinaris; Henry Houlden
Journal:  Mov Disord Clin Pract       Date:  2018-11-08

3.  Clinical Update on C9orf72: Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, and Beyond.

Authors:  Dario Saracino; Isabelle Le Ber
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

Review 4.  Cross-examining candidate genes implicated in multiple system atrophy.

Authors:  Jared S Katzeff; Katherine Phan; Sivaraman Purushothuman; Glenda M Halliday; Woojin Scott Kim
Journal:  Acta Neuropathol Commun       Date:  2019-07-24       Impact factor: 7.801

5.  A pathologically confirmed case of combined amyotrophic lateral sclerosis with C9orf72 mutation and multiple system atrophy.

Authors:  Andrew King; Yuan Kai Lee; Shalmai Jones; Claire Troakes
Journal:  Neuropathology       Date:  2022-06-23       Impact factor: 2.076

Review 6.  Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy1.

Authors:  Kurt A Jellinger
Journal:  J Alzheimers Dis       Date:  2018       Impact factor: 4.472

Review 7.  Heterogeneity of Multiple System Atrophy: An Update.

Authors:  Kurt A Jellinger
Journal:  Biomedicines       Date:  2022-03-03
  7 in total

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