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

被引：43

作者：

Kumar, Kishore R. ^{[1
]}

Needham, Merrilee

Mina, Kym ^{[2
]}

Davis, Mark ^{[2
]}

Brewer, Janice ^{[3
]}

Staples, Christopher ^{[4
]}

Ng, Karl

Sue, Carolyn M. ^{[5
,6
]}

Mastaglia, Frank L. ^{[7
]}

机构：

[1] Royal N Shore Hosp, Dept Neurol, Clin 4, St Leonards, NSW 2065, Australia

[2] Royal Perth Hosp, Neurogenet Unit, Dept Anat Pathol, Perth, WA 6000, Australia

[3] Royal N Shore Hosp, Dept Anat Pathol, St Leonards, NSW 2065, Australia

[4] Mater Hlth Serv, Brisbane, Qld 4101, Australia

[5] Royal N Shore Hosp, Dept Neurogenet, Kolling Inst, St Leonards, NSW 2065, Australia

[6] Univ Sydney, St Leonards, NSW 2065, Australia

[7] Univ Western Australia, Ctr Neuromuscular & Neurol Disorders, Australian Neuromuscular Res Inst, Queen Elizabeth II Med Ctr, Perth, WA 6009, Australia

来源：

NEUROMUSCULAR DISORDERS | 2010年 / 20卷 / 05期

关键词：

IBMPFD; Inclusion-body myopathy; VCP; Novel; Mutation; Pyramidal; VCP MUTATIONS; CONDUCTION; TDP-43; MOTOR; CRITERIA;

D O I：

10.1016/j.nmd.2010.03.002

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 2010 Elsevier B.V. All rights reserved.

引用

页码：330 / 334

页数：5

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