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

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• 作者：Kishore R. Kumar ; Merrilee Needham ; Kym Mina ; Mark Davis ; Janice Brewer ; Christopher Staples ; Karl Ng ; Carolyn M. Sue ; Frank L. Mastaglia
• 关键词：IBMPFD ; Inclusion-body myopathy ; VCP ; Novel ; Mutation ; Pyramidal
• 刊名：Neuromuscular Disorders
• 出版年：2010
• 出版时间：May 2010
• 年：2010
• 卷：20
• 期：5
• 页码：330-334
• 全文大小：352 K

文摘

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.