Djamshidian Atbin, Schaefer Jochen, Haubenberger Dietrich, Stogmann Elisabeth, Zimprich Friedrich, Auff Eduard, Zimprich Alexander
Department of Neurology, Medical University of Vienna; Währinger Gürtel 18-20, Vienna A-1097, Austria.
Muscle Nerve. 2009 Mar;39(3):389-91. doi: 10.1002/mus.21225.
Mutations in the valosin-containing protein (VCP) are known to cause autosomal-dominant inclusion-body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the N-terminal region of the VCP gene in a German family. Family members presented with mild to moderate proximal muscle weakness, Paget disease of bone, and signs of early cognitive decline, with onset in the fourth decade. Two family members also showed signs of early hearing impairment, which was confirmed to be sensorineural in one person, a symptom not yet described in the context of IBMPFD.
已知含缬酪肽蛋白（VCP）的突变会导致常染色体显性遗传性包涵体肌病伴骨佩吉特病和额颞叶痴呆（IBMPFD）。我们报告了一个德国家庭中VCP基因N端区域的一个新的错义突变（G157R）。家庭成员表现为轻度至中度近端肌无力、骨佩吉特病以及早期认知衰退迹象，发病于第四个十年期。两名家庭成员还表现出早期听力障碍迹象，其中一人经确认是感音神经性听力损失，这是一种在IBMPFD背景下尚未描述过的症状。
