Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine→serine (L250S) substitution at codon 250 of the presenilin 1 gene. Issue 1 (1st January 1998)

• Record Type: Journal Article
• Authors: Harvey, Richard J; Ellison, David; Hardy, John; Hutton, Mike; Roques, Penelope K; Collinge, John; Fox, Nick C; Rossor, Martin N
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 64:Issue 1(1998)
• Page Start: 44
• Page End: 49
• Publication Date: 1998-01-01
• Subjects: presenilin 1 -- familial Alzheimer's disease -- clinical features -- chromosome 14; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.64.1.44
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : BACKGROUND: Seven affected members are described from a kindred with autosomal dominant familial Alzheimer's disease associated with a novel mutation in the presenilin 1 (PS1) gene on chromosome 14 that results in a leucine to serine substitution at codon 250 (L250S). METHOD: Clinical information on the pedigree was collected directly from family members including affected members and their carers and also from hospital records. RESULTS: Detailed clinical information was available on five members. All had an early age at onset with a median age of 52 (95% confidence interval (95% CI) 49.4–54.9). Age at onset varied between 49 and 56 years, with duration of illness varying between six years and 15 years. Myoclonus, depression, and psychosis were features of this pedigree; seizures were not reported. CONCLUSIONS: PS1 L250S familial Alzheimer's disease is an early onset form of Alzheimer's disease with clinical features similar to other reported familial Alzheimer's disease pedigrees, except that seizures were absent.