14号染色体型家族性阿尔茨海默病：早老素1基因第250密码子发生亮氨酸→丝氨酸（L250S）替换的一个家族的临床和神经病理学特征
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.
作者信息
Harvey R J, Ellison D, Hardy J, Hutton M, Roques P K, Collinge J, Fox N C, Rossor M N
机构信息
Dementia Research Group, The National Hospital for Neurology and Neurosurgery and Imperial College School of Medicine at St Mary's, London, UK.
出版信息
J Neurol Neurosurg Psychiatry. 1998 Jan;64(1):44-9. doi: 10.1136/jnnp.64.1.44.
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.
摘要
背景
在一个常染色体显性遗传性家族性阿尔茨海默病家系中，描述了7名患病成员。该疾病与14号染色体上早老素1（PS1）基因的一个新突变相关，该突变导致密码子250处的亮氨酸被丝氨酸取代（L250S）。
方法
家系的临床信息直接从家庭成员（包括患病成员及其护理人员）以及医院记录中收集。
结果
有5名成员的详细临床信息。所有患者均发病较早，中位年龄为52岁（95%置信区间[95%CI]49.4 - 54.9）。发病年龄在49岁至56岁之间，病程在6年至15年之间。肌阵挛、抑郁和精神病是该家系的特征；未报告有癫痫发作。
结论
PS1 L250S家族性阿尔茨海默病是阿尔茨海默病的一种早发型形式，其临床特征与其他报道的家族性阿尔茨海默病家系相似，但无癫痫发作。
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