Early-onset Alzheimers and Cortical Vision Impairment in a Woman With Valosin-containing Protein Disease Associated With 2 APOE ε4/APOE ε4 Genotype

Hereditary inclusion body myopathy is a heterogeneous group of disorders characterized by rimmed vacuoles and by the presence of filamentous cytoplasmic and intranuclear inclusions. Inclusion body myopathy with Paget disease of bone and frontotemporal dementia is a progressive autosomal dominant disorder associated with a mutation in valosin-containing protein (VCP) with typical onset of symptoms in the 30s. APOE epsilon 4 is a major risk factor for late-onset Alzheimer disease, a progressive neurodegenerative disorder that affects memory, thinking, behavior, and emotion as a result of the excessive buildup and decreased clearance of beta-amyloid proteins resulting in the appearance of neuritic plaques and neurofibrillary tangles. In conclusion, we report a unique patient with an APOE epsilon 4/APOE epsilon 4 genotype and atypical VCP disease associated with early Alzheimer disease and severe vision impairment. Future studies will elucidate the interaction of VCP mutations and APOE epsilon 4 alleles in understanding common mechanisms in AD and VCP disease.