Literature DB >> 20335036

Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings.

Kishore R Kumar1, Merrilee Needham, Kym Mina, Mark Davis, Janice Brewer, Christopher Staples, Karl Ng, Carolyn M Sue, Frank L Mastaglia.   

Abstract

We report the first Australian families with inclusion-body myopathy, Paget's disease of the bone and frontotemporal dementia (IBMPFD). The clinical characteristics of the two pedigrees are described including a previously undescribed phenotypic feature of pyramidal tract dysfunction in one family member. A novel mutation in the valosin-containing protein (VCP) gene (p.Arg155Leu) was found in one family while the other family had a previously reported mutation (p.Leu198Trp). Our findings broaden the phenotypic spectrum of IBMPFD and further emphasise the resemblance to amyotrophic lateral sclerosis in some cases. 2010 Elsevier B.V. All rights reserved.

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Year:  2010        PMID： 20335036     DOI： 10.1016/j.nmd.2010.03.002

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  26 in total

1.  A novel ATP-dependent conformation in p97 N-D1 fragment revealed by crystal structures of disease-related mutants.

Authors:  Wai Kwan Tang; Dongyang Li; Chou-chi Li; Lothar Esser; Renming Dai; Liang Guo; Di Xia
Journal:  EMBO J       Date:  2010-05-28       Impact factor: 11.598

2.  A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.

Authors:  Jake Plewa; Abhilasha Surampalli; Marie Wencel; Merit Milad; Sandra Donkervoort; Vincent J Caiozzo; Namita Goyal; Tahseen Mozaffar; Virginia Kimonis
Journal:  Neuromuscul Disord       Date:  2018-06-27       Impact factor: 4.296

3.  A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation.

Authors:  Abhilasha Surampalli; Brian T Gold; Charles Smith; Rudy J Castellani; Manaswitha Khare; Hon Yu; Celeste Nguyen; Mary Lan; Marie Wencel; Sharon Wigal; Vince Caiozzo; Virginia Kimonis
Journal:  Neuromuscul Disord       Date:  2014-10-22       Impact factor: 4.296

4.  Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.

Authors:  E Al-Obeidi; S Al-Tahan; A Surampalli; N Goyal; A K Wang; A Hermann; M Omizo; C Smith; T Mozaffar; V Kimonis
Journal:  Clin Genet       Date:  2018-01       Impact factor: 4.438

5.  The Transitional Endoplasmic Reticulum ATPase p97 Regulates the Alternative Nuclear Factor NF-κB Signaling via Partial Degradation of the NF-κB Subunit p100.

Authors:  Zhao Zhang; Yanyan Wang; Chuanchuan Li; Zhubing Shi; Qian Hao; Wenjia Wang; Xiaomin Song; Yun Zhao; Shi Jiao; Zhaocai Zhou
Journal:  J Biol Chem       Date:  2015-06-25       Impact factor: 5.157

6.  Exome sequencing reveals VCP mutations as a cause of familial ALS.

Authors:  Janel O Johnson; Jessica Mandrioli; Michael Benatar; Yevgeniya Abramzon; Vivianna M Van Deerlin; John Q Trojanowski; J Raphael Gibbs; Maura Brunetti; Susan Gronka; Joanne Wuu; Jinhui Ding; Leo McCluskey; Maria Martinez-Lage; Dana Falcone; Dena G Hernandez; Sampath Arepalli; Sean Chong; Jennifer C Schymick; Jeffrey Rothstein; Francesco Landi; Yong-Dong Wang; Andrea Calvo; Gabriele Mora; Mario Sabatelli; Maria Rosaria Monsurrò; Stefania Battistini; Fabrizio Salvi; Rossella Spataro; Patrizia Sola; Giuseppe Borghero; Giuliana Galassi; Sonja W Scholz; J Paul Taylor; Gabriella Restagno; Adriano Chiò; Bryan J Traynor
Journal:  Neuron       Date:  2010-12-09       Impact factor: 17.173

7.  Phenotypic variability in three families with valosin-containing protein mutation.

Authors:  S Spina; A D Van Laar; J R Murrell; R L Hamilton; J K Kofler; F Epperson; M R Farlow; O L Lopez; J Quinlan; S T DeKosky; B Ghetti
Journal:  Eur J Neurol       Date:  2012-08-20       Impact factor: 6.089

8.  Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.

Authors:  S G Mehta; M Khare; R Ramani; G D J Watts; M Simon; K E Osann; S Donkervoort; E Dec; A Nalbandian; J Platt; M Pasquali; A Wang; T Mozaffar; C D Smith; V E Kimonis
Journal:  Clin Genet       Date:  2012-10-04       Impact factor: 4.438

9.  Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.

Authors:  Paloma González-Pérez; Elizabeth T Cirulli; Vivian E Drory; Ron Dabby; Puiu Nisipeanu; Ralph L Carasso; Menachem Sadeh; Andrew Fox; Barry W Festoff; Peter C Sapp; Diane McKenna-Yasek; David B Goldstein; Robert H Brown; Sergiu C Blumen
Journal:  Neurology       Date:  2012-11-14       Impact factor: 9.910

10.  Motor neuron involvement in multisystem proteinopathy: implications for ALS.

Authors:  Michael Benatar; Joanne Wuu; Catalina Fernandez; Conrad C Weihl; Heather Katzen; Julie Steele; Bjorn Oskarsson; J Paul Taylor
Journal:  Neurology       Date:  2013-05-01       Impact factor: 9.910
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