Presenile dementia may be caused by a variety of different genetic conditions such as
familial Alzheimer's disease, prion disease as well as several hereditary metabolic disorders
including adult onset neuronal ceroid lipofuscinosis. We report a multigenerational family
with autosomal dominant presenile dementia harboring a cerebellar phenotype.
Longitudinal clinical work-up in affected family members revealed ataxia accompanied by
progressive cognitive decline, rapid loss of global cognition, memory, visuospatial and …