Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

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• 作者：Johanna Palmio^a ; ^{johanna.palmio@uta.fi"" rel=""nofollow} ; Satu Sandell^a ; ^b ; Tiina Suominen^a ; Sini Penttilä ; ^a ; Olayinka Raheem^a ; Peter Hackman^c ; Sanna Huovinen^a ; ^d ; Hannu Haapasalo^d ; Bjarne Udd^a ; ^c ; ^e
• 关键词：Distal myopathy ; Frontotemporal dementia ; Valosin-containing protein
• 刊名：Neuromuscular Disorders
• 出版年：2011
• 出版时间：August 2011
• 年：2011
• 卷：21
• 期：8
• 页码：551-555
• 全文大小：435 K

文摘

Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD) is caused by mutations in the valosin-containing protein (VCP) gene. We report a new distal phenotype caused by VCP gene mutation in a Finnish family with nine affected members in three generations. Patients had onset of distal leg muscle weakness and atrophy in the anterior compartment muscles after age 35, which caused a foot drop at age 50. None of the siblings had scapular winging, proximal myopathy, cardiomyopathy or respiratory problems during long-term follow-up. Three distal myopathy patients developed rapidly progressive dementia, became bedridden and died of cachexia and pneumonia and VCP gene mutation P137L (c.410C > T) was then identified in the family. Late onset autosomal dominant distal myopathy with rimmed vacuolar muscle pathology was not sufficient for exact diagnosis in this family until late-occurring dementia provided the clue for molecular diagnosis. VCP needs to be considered in the differential diagnostic work-up in patients with distal myopathy phenotype.