Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein

A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

“…Mild behavioral disturbances and cognitive impairment started to develop at the age of 56 years. This caused progressive FTD with features of both the behavioral variant of FTD and of semantic dementia and severe atrophy of the anterior temporal lobes, one of the characteristic features of semantic dementia (12) previously described in cases of IBMPFD (13).…”

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy

“…Rimmed vacuoles are a characteristic histopathological feature of sporadic inclusion body myositis (s-IBM) and hereditary inclusion body myopathy (hIBM), but are also found frequently in distal myopathies, oculopharyngeal muscular dystrophy (OPMD), rigid spine syndrome, congenital myopathies and some limb girdle muscular dystrophies [16,20,25,33,36]. Morphological and immunohistochemical evidence supports the notion that at least some of these vacuoles are caused by the degeneration of muscle fibre nuclei [9,36].…”

Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree

“…The R155H mutation, an arginine-to-histidine substitution in the N-terminal CDC48 domain of the VCP protein, results in loss of VCP function5 and is found exclusively in individuals affected with IBMPFD 1. Clinical reports of this disease are scarce 1 2 4.…”