Rinsho Shinkeigaku (Clinical Neurology)

Brief Clinical Note

An advanced case of myopathy and dementia with a new mutation in the valosin-containing protein gene

Tsutomu Kamiyama, M.D., Ph.D.1), Renpei Sengoku, M.D., Ph.D.1), Masayuki Sasaki, M.D.1), Yukiko Hayashi, M.D., Ph.D.2), Ichizo Nishino, M.D., Ph.D.2), Soichiro Mochio, M.D., Ph.D.3) and Yasuyuki Iguchi, M.D., Ph.D.1)

1)Department of Neurology, The Jikei University School of Medicine
2)Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)
3)Depertment of Nursing, The Jikei University School of Medicine

We report a 51-year-old man with myopathy and dementia probably caused by a novel mutation of the valosincontaining protein (VCP) gene, in the form of a p.Ala439Pro substitution. At 43 years old, he presented at least 2-year history of weakness of right ankle dorsiflexion. Findings from muscle biopsy suggested distal myopathy with rimmed vacuoles. However, no mutation in the GNE gene was identified. He complained of giving way of the knee, and muscle imaging study showed adipose tissue infiltration in the quadriceps. Ten years later, he was confined to a wheelchair and became reticent and antisocial with slightly impaired memory. A muscle CT revealed atrophy or replacement by adipose tissue in the muscles of neck, trunks and extremities muscles with laterality and variation of the degree. The magnetic resonance imaging of the brain showed bilateral frontal and temporal lobe atrophy with left dominance. Findings were compatible with inclusion body myopathy with Paget's disease of bone and frontotemporal dementia.
Full Text of this Article in Japanese PDF (9744K)

(CLINICA NEUROL, 53: 465－469, 2013)
key words: inclusion body myopathy with Paget's disease of bone and frontotemporal dementia, rimmed vacuole, valosin-containing protein, frontotemporal dementia, Paget's disease of bone

(Received: 11-Nov-11)