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Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family |
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| Authors: | Palmio Johanna Sandell Satu Suominen Tiina Penttilä Sini Raheem Olayinka Hackman Peter Huovinen Sanna Haapasalo Hannu Udd Bjarne |
| Institution: | a Neuromuscular Research Unit, Department of Neurology, University Hospital and University of Tampere, Finland b Department of Neurology, Seinäjoki Central Hospital, Finland c Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland d Department of Pathology, Centre for Laboratory Medicine, Tampere University Hospital, Finland e Vaasa Central Hospital, Finland |
| Abstract: | 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. |
| Keywords: | Distal myopathy Frontotemporal dementia Valosin-containing protein |
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