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Epidermal nevus syndrome: an unusual cerebellar involvement

The epidermal nevus syndrome is characterized by several developmental anomalies associated with an epidermal nevus. In addition to the skin, other organs commonly affected include the brain, eyes and musculoskeletal system. We report here on a 24-year-old woman with this syndrome who presented with hemifacial hypertrophy, hearing abnormalities, arrhythmia and an unusual infratentorial brain involvement.

Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheime...

Alzheimer's disease (AD) is the most common neurodegenerative disorder associated with dementia in late adulthood. Mitochondrial respiratory chain impairment has been detected in the brain, muscle, fibroblasts and platelets of AD patients, indicating a possible involvement of mitochondrial DNA (mtDNA) in the etiology of the disease. Several reports have identified mtDNA mutations in AD patients, but there is no...

Frontotemporal dementia and mitochondrial DNA transitions

Frontotemporal dementia (FTD) is the second most common type of primary degenerative dementia. Some patients present an overlap between Alzheimer's disease (AD) and FTD both in neuropathological and clinical aspects. This may suggest a similar overlap in physiopathology, namely an involvement of mitochondrial DNA (mtDNA) in FTD, as it has been associated to AD. To determine if mtDNA is involved in FTD, we perfo...

Apolipoprotein E epsilon4 allele is a risk factor for Alzheimer's disease: the ...