Abstract
To investigate the genetic contribution of ANXA11, a gene associated with amyotrophic lateral sclerosis (ALS), in Chinese ALS patients with and without cognitive dementia. Sequencing all the coding exons of ANXA11 and intron-exon boundaries in 18 familial amyotrophic lateral sclerosis (FALS), 353 unrelated sporadic amyotrophic lateral sclerosis (SALS), and 12 Chinese patients with ALS-frontotemporal lobar dementia (ALS-FTD). The transcripts in peripheral blood generated from a splicing mutation were examined by reverse transcriptase PCR. We identified 6 nonsynonymous heterozygous mutations (5 novel and 1 recurrent), 1 splice site mutation, and 1 deletion of 10 amino acids (not accounted in the mutant frequency) in 11 unrelated patients, accounting for a mutant frequency of 5.6% (1/18) in FALS, 2.3% (8/353) in SALS, and 8.3% (1/12) in ALS-FTD. The deletion of 10 amino acids was detected in 1 clinically undetermined male with an ALS family history who had atrophy in hand muscles and myotonic discharges revealed by EMG. The novel p. P36R mutation was identified in 1 FALS index, 1 patient with SALS, and 1 ALS-FTD. The splicing mutation (c.174-2A>G) caused in-frame skipping of the entire exon 6. The rest missense mutations including...Continue Reading
References
Dec 17, 1998·Neurology·D NearyD F Benson
Jul 24, 2001·Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases·B R BrooksUNKNOWN World Federation of Neurology Research Group on Motor Neuron Diseases
Jan 18, 2006·Immunity·Toru FukushimaShu-Ichi Matsuzawa
Mar 1, 2008·Science·Jemeen SreedharanChristopher E Shaw
Apr 1, 2008·Nature Genetics·Edor KabashiGuy A Rouleau
Jan 24, 2009·Nature Genetics·Sylvia HofmannStefan Schreiber
Nov 7, 2009·Biochemical and Biophysical Research Communications·Wiesława LeśniakAnna Filipek
Aug 4, 2011·Brain : a Journal of Neurology·Katya RascovskyBruce L Miller
Sep 29, 2011·Neuron·Mariely DeJesus-HernandezRosa Rademakers
Sep 29, 2011·Neuron·Alan E RentonBryan J Traynor
Oct 13, 2011·Nature Reviews. Neurology·Peter M Andersen, Ammar Al-Chalabi
Feb 11, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Jiasheng WangFrederick T Greenaway
Apr 2, 2014·Nature Neuroscience·Janel O JohnsonBryan J Traynor
Jun 18, 2014·Brain : a Journal of Neurology·Sylvie BannwarthVéronique Paquis-Flucklinger
Jul 25, 2014·BMJ Open·Xianjun FengLigong Zhang
Oct 26, 2014·Human Molecular Genetics·Hannah M KanebPatrick A Dion
Nov 7, 2014·Neuron·Bradley N SmithJohn E Landers
Feb 24, 2015·Science·Elizabeth T CirulliDavid B Goldstein
Mar 25, 2015·Nature Neuroscience·Axel FreischmidtJochen H Weishaupt
Mar 8, 2016·Brain : a Journal of Neurology·David BrennerJochen H Weishaupt
Apr 16, 2016·Nature Communications·Kelly L WilliamsIan P Blair
Jun 18, 2016·Journal of Neurology, Neurosurgery, and Psychiatry·Qing LiuXue Zhang
Nov 11, 2016·Nature·J Paul TaylorDon W Cleveland
Dec 23, 2016·Human Mutation·Julie van der ZeeSilvia Testi
Jan 7, 2017·Journal of Neurology, Neurosurgery, and Psychiatry·Zhang-Yu ZouHua-Pin Huang
Feb 9, 2017·Genome Medicine·Yuya KobayashiScott E Topper
May 5, 2017·Science Translational Medicine·Bradley N SmithChristopher E Shaw
Jun 7, 2017·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Ashley CrookDominic B Rowe
Jul 13, 2017·The New England Journal of Medicine·Robert H Brown, Ammar Al-Chalabi
Citations
Oct 10, 2019·Human Molecular Genetics·Michael FernandopullePeter H St George-Hyslop
Nov 9, 2019·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Anne GieselerKarl-Heinz Zacher
Nov 9, 2019·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Jennifer RoggenbuckJonathan Glass
Mar 14, 2019·Science China. Life Sciences·Qianqian WeiHui-Fang Shang
Aug 7, 2019·Cellular and Molecular Neurobiology·Benedetta PerroneSebastiano Cavallaro
Apr 30, 2020·Biomolecules·Peder A G LillebostadPetri Kursula
Sep 9, 2020·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Xiaohan SunXue Zhang
Oct 23, 2020·Science Translational Medicine·Minyeop NahmSeung Hyun Kim
Oct 23, 2020·Journal of Neurology, Neurosurgery, and Psychiatry·Xiaohan SunXue Zhang
Jan 30, 2021·Nature Neuroscience·Michael S FernandopulleMichael E Ward
Nov 22, 2020·Neurobiology of Aging·Elisa TeyssouStéphanie Millecamps
Feb 24, 2021·Neurobiology of Aging·João Pedro Nunes GonçalvesMarcondes C França
Apr 4, 2021·International Journal of Molecular Sciences·Markus KwikSelma M Soyal
Sep 21, 2019·Cell·Ya-Cheng LiaoMichael E Ward
Jun 9, 2021·Acta Neuropathologica Communications·Makoto SainouchiAkiyoshi Kakita
May 29, 2021·Annals of Neurology·Tauana Bernardes LeoniMarcondes C França