[Inclusion body myositis, Paget's disease of the bone and frontotemporal dementia: early involvement of the heart and respiratory muscles].
Since valosin-containing protein mutations were reported as a cause of hereditary inclusion body myositis associated with Paget's disease of the bone and frontotemporal dementia, many new mutations have been described in the last decade. We report on a 46-year-old German male with a progressive tetraparesis and autosomal dominant inheritance pattern. Echocardiography revealed a beginning dilated cardiomyopathy and laboratory analyses showed increased alkaline phosphatase. Decreased verbal memory and an impairment of concept building were observed on neuropsychological examination. Muscle biopsy demonstrated a myopathic pattern, rimmed vacuoles, CD8+ T-cell infiltrates and positive MHC1-muscle fibres. We found a heterozygote mutation in exon 5 of the valosin-containing protein gene (c.464G > T p.Arg155Leu), which until now has been described only in an Australian family. We describe here the first German case with the above-mentioned mutation causing inclusion-body myositis associated with Paget's disease of the bone and fronto-temporal dementia. Here, we recommend regular controls of cardiac and respiratory functions.
Klinik Kipfenberg GmbH, Kipfenberg. matthias.ponfick@uni-ulm.de
M
M
Ponfick
A C
AC
Ludolph
G
G
Dekomien
I
I
Uttner
J
J
Kassubek
H-J
HJ
Gdynia
D017668:Age of Onset; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000000981:diagnostic imaging; D004452:Echocardiography; D057180:Frontotemporal Dementia / Q000150:complications* / Q000235:genetics / Q000503:physiopathology*; D006321:Heart / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018979:Myositis, Inclusion Body / Q000150:complications* / Q000235:genetics / Q000503:physiopathology*; D009483:Neuropsychological Tests; D010001:Osteitis Deformans / Q000150:complications* / Q000235:genetics / Q000503:physiopathology*; D010375:Pedigree; D011782:Quadriplegia / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D012132:Respiratory Muscles / Q000473:pathology / Q000503:physiopathology*