Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia

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• 作者：Anne-Kathrin Peyer^a ; ^b ; ^{peyera@uhbs.ch} ; Jochen Kinter^a ; ^b ; Jü ; rgen Hench^c ; Stephan Frank^c ; Peter Fuhr^a ; ^b ; Sandra Thomann^a ; ^b ; Arne Fischmann^d ; Stefan Kneifel^e ; ¹ ; Pilar Camañ ; o^f ; ^g ; Adolfo Ló ; pez de Munain^f ; Michael Sinnreich^a ; ^b ; Susanne Renaud^a ; ^b ; ²
• 关键词：Hereditary inclusion body myopathy ; Paget&rsquo ; s disease of the bone ; Frontotemporal dementia ; Valosin containing protein
• 刊名：Neuromuscular Disorders
• 出版年：2013
• 出版时间：February, 2013
• 年：2013
• 卷：23
• 期：2
• 页码：149-154
• 全文大小：823 K

文摘

Inclusion body myopathy associated with Paget¡¯s disease of the bone and frontotemporal dementia is a rare but highly penetrant autosomal dominant progressive disorder linked to mutations in valosin containing protein (VCP). Here, we characterize a novel mutation in the linker 1 domain of VCP leading to inclusion body myopathy and/or frontotemporal dementia in 3 generations of a Swiss family. A detailed history of several years of clinical follow-up and electrophysiological, radiological and pathological findings are presented. Five out of 6 individuals suffered from progressive myopathy and 2 out of 6 from frontotemporal dementia, respectively. A radiologically suspected Paget¡¯s disease of the bone could not been confirmed at autopsy. This case study illustrates that only a subset of individuals shows the full triad of the disease complex and that clinicopathological findings are - when interpreted apart from familial history - hard to distinguish from sporadic inclusion body myositis.