Genetic studies of amyotrophic lateral sclerosis: Controversies and perspectives

被引：70

作者：

Beleza-Meireles, Ana ^{[1
]}

Al-Chalabi, Ammar ^{[1
]}

机构：

[1] Kings Coll London, Inst Psychiat, MRC Ctr Neurodegenerat Res, London SE5 8AF, England

来源：

AMYOTROPHIC LATERAL SCLEROSIS | 2009年 / 10卷 / 01期

基金：

英国医学研究理事会;

关键词：

Genetics; association; linkage; genome-wide association; copy number variation; MOTOR-NEURON DISEASE; GENOME-WIDE ASSOCIATION; MUTATION-SELECTION BALANCE; HEAVY NEUROFILAMENT SUBUNIT; SPINAL MUSCULAR-ATROPHY; SPORADIC ALS PATIENTS; COPY-NUMBER VARIATION; FRONTOTEMPORAL DEMENTIA; MITOCHONDRIAL-DNA; CNTF GENE;

D O I：

10.1080/17482960802585469

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The genetic causes of amyotrophic lateral sclerosis (ALS) are slowly being dissected out with the help of recent advances in genetic technology. Linkage studies and association studies examining candidate genes, candidate pathways, and genome-wide association have been used, based on direct sequencing and correlations between genetic variations. Copy number and microsatellite variants have also been examined, although the ideal methods for analysis are still being developed. In this review we examine the evidence for a genetic basis to ALS, discuss the challenges and difficulties faced and summarize the support for the reported genetic causes of ALS.

引用

页码：1 / 14

页数：14

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