To characterize a cohort of individuals who have experienced rapidly progressive dementia with onset prior to age 45.
Very little data regarding the clinical features or clinical spectrum of rapidly progressive young-onset dementia (RP-YOD) is available, primarily consisting of case reports or small series.
A search of the Mayo Clinic medical record was employed to identify patients who had onset prior to age 45 of rapidly progressive dementia. All available medical records, laboratory data, neuroimaging studies, and pathological data were reviewed.
Twenty-two patients met the pre-defined inclusion and exclusion criteria. Behavioral and affective disorders, cerebellar dysfunction and visual and/or oculomotor dysfunction were common early clinical features within the cohort, as were clinical features often associated with Creutzfeldt-Jakob disease (CJD). Diagnostic testing identified an etiology in most patients.
Presentations of RP-YOD result from a variety of etiologies and significant overlap in clinical features is observed. Clinical features often associated with CJD appear to be common within the entire cohort of RP-YOD patients. Diagnostic studies aided in establishing a diagnosis in most patients, however five had uncertain diagnoses despite exhaustive evaluation.