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

Overview

Journal J Neurol Neurosurg Psychiatry

Publisher BMJ Publishing Group

Specialties Neurology
Neurosurgery
Psychiatry

Date 1998 Jan 22

PMID 9436726

Citations 11

Authors

R J Harvey

D Ellison

J Hardy

M Hutton

P K Roques

J Collinge

N C Fox

M N Rossor

Affiliations

Soon will be listed here.

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.

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