Young-onset dementia: Demographic and etiologic characteristics of 235 patients

Background: Onset of dementia before age 45 years presents a difficult clinical circumstance, having a broad differential diagnosis and numerous psychosocial implications for the patient and their family. Few data exist regarding the demographics characterizing this population or the etiologic diagnoses among those affected. Objectives: To characterize the demographic characteristics and the etiologic causes of dementia with age at onset younger than 45 years. Design: Observational, retrospective, single-cohort study. Setting: Multispecialty group academic medical center. Patients: We searched the Mayo Clinic Rochester electronic Medical Record Linkage System to identify individuals who were seen for evaluation of progressive cognitive decline between the ages of 17 and 45 years from January 1996 through December 2006. This search identified 235 individuals who met the established inclusion and exclusion criteria. Main Outcome Measures: All available clinical, laboratory, magnetic resonance imaging, and pathological data were reviewed. Results: Causes varied, with neurodegenerative etiologies accounting for 31.1% of the cohort; Alzheimer disease was uncommon. Autoimmune or inflammatory causes accounted for 21.3%. At last follow-up, 44 patients (18.7%) had an unknown etiology, despite exhaustive evaluation. Cause varied with age, with inborn errors of metabolism being more common before age 30 years and with neurodegenerative etiologies being more common after age 35 years. Conclusions: Young-onset dementia (age at onset, <45 years) includes a broad variety of etiologies, with few patients having a potentially treatable disorder. The etiologic spectrum and the relative percentages of patients within etiologic groups differed in important ways from existing reports of early-onset dementia (ie, age at onset, <65 years).