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
- Richard J Harveya,
- David Ellisonb,
- John Hardyc,
- Mike Huttonc,
- Penelope K Roquesa,
- John Collinged,
- Nick C Foxa,
- Martin N Rossora
- aDementia Research Group, The National Hospital for Neurology and Neurosurgery and Imperial College School of Medicine at St Mary’s, Queen Square, London, UK, bDepartment of Pathology, Southampton General Hospital, Hampshire, UK, cSuncoast Alzheimer’s Disease Laboratories, University of South Florida, Tampa, FL33613, USA, dDepartment of Biochemistry and Molecular Genetics, Imperial College School of Medicine at St Mary’s, Praed Street, London W2 1PG, UK
- Dr M N Rossor, Dementia Research Group, the National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. Telephone +44 171 829 8773; fax +44 171 209 0182, email:RESEARCH{at}DEMENTIA.ION.UCL.AC.UK.
- Received 24 February 1997
- Revised 3 June 1997
- Accepted 18 June 1997
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.
