Dementia with Lewy bodies in an elderly Greek male due to alpha-synuclein gene mutation.
We report the case of an elderly man of Greek background who presented with progressive cognitive decline and motor parkinsonism on a background of a strong family history of Parkinson's disease. Associated symptoms included visual hallucinations, excessive daytime drowsiness, recurrent falls, orthostatic hypotension and urinary incontinence. His major clinical symptoms and signs fulfilled consensus criteria for a clinical diagnosis of dementia with Lewy bodies. An alpha-synuclein gene mutation analysis for the G209A substitution was positive. We conclude that the alpha-synuclein (G209A) gene mutation genotype should be considered in the differential diagnosis of dementia with Lewy bodies, particularly in patients with European ancestry and a family history of Parkinson's disease.
Morfis
Litsa
L
Department of Aged Care, St George Hospital, Gray St, Kogarah, Sydney, New South Wales 2217, Australia. morfisl@sesahs.nsw.gov.au
Cordato
Dennis John
DJ
D000058:Accidental Falls; D000368:Aged; D003072:Cognition Disorders / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D018450:Disease Progression; D017809:Fatal Outcome; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006115:Greece / Q000208:ethnology; D006212:Hallucinations / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007024:Hypotension, Orthostatic / Q000235:genetics / Q000503:physiopathology; D020961:Lewy Body Disease / Q000208:ethnology* / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation / Q000235:genetics; D020734:Parkinsonian Disorders / Q000235:genetics / Q000503:physiopathology; D012141:Respiratory Tract Infections; D014549:Urinary Incontinence / Q000235:genetics / Q000503:physiopathology; D051844:alpha-Synuclein / Q000235:genetics*
D005819:Genetic Markers; D051844:alpha-Synuclein