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A Japanese patient with a VCP mutation c.290G > A (p.G97E) presenting a rapid progressive respiratory failure
Author(s) -
Nomura Emi,
Ohta Yasuyuki,
Sato Kota,
Kawahara Yuko,
Takemoto Mami,
Takahashi Yoshiaki,
Matsumoto Namiko,
Yunoki Taijun,
Yamashita Toru,
Hishikawa Nozomi,
Nishino Ichizo,
Abe Koji
Publication year - 2019
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.12330
Subject(s) - medicine , frontotemporal dementia , respiratory failure , myopathy , pathology , mutation , dementia , disease , gene , genetics , biology
Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) is an autosomal dominant disorder caused by mutations in the valosin‐containing protein ( VCP ) gene. IBMPFD usually presents progressive limb muscle weakness resulting in wheelchaired after mean course of 9 years with myopathy, and Paget's osteolytic lesions and frontotemporal dementia (FTD) rarely present respiratory failure. Different from previous reports, we reported a Japanese IBMPFD patient with a VCP mutation c.290G > A (p.G97E), presenting a progressive respiratory failure accompanied by wheelchaired in only 6 years after myopathy onset, suggesting unique relationship between clinical severity and c.290G > A (p.G97E) mutation of VCP gene in Japanese.