Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum

We report a severe phenotype in a Portuguese patient, related to a novel mutation in the valosin-containing protein gene, characterized by a severe late-onset distal myopathy and a rapidly progressive cognitive dysfunction suggesting fronto-temporal dementia. The patient did not manifest Paget disease. Family history was negative. This case emphasizes the importance of considering inclusion body myopathy with early-onset Paget disease and fronto-temporal dementia in the differential diagnosis of distal myopathies, even in the absence of family history.
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research