The goal of this multicenter study is to identify genetic risk factors that predispose to amyotrophic lateral sclerosis (ALS). Our focus will be to identify risk genes that predispose to sporadic ALS or ALS observed in small families and familial aggregates. We will also continue our collaborative study of dominantly inherited familial ALS. Our primary hypothesis is that multiple genetic factors predispose to the development of ALS, and our specific aims of this multicenter study will test this hypothesis.
We aim to: (i) Improve our resources for genetic analysis by collecting clinical information and DNA from sporadic ALS patients and their parents and from familial ALS families. (ii) Test certain genes that are hypothesized to predispose to ALS, in sporadic cases of and in small familial and in familial aggregates (iii) Search for gene loci in small familial aggregates, unsuitable for conventional parametric linkage analysis by, non-parametric linkage technique. (iv) Use parametric linkage analysis to search for gene linkage in large familial ALS families that do not have mutations in the gene for Cu,Zn superoxide dismutase. This is the first large-scale study of genetic risk factors in ALS, and is only possible because of collaborative arrangement between four centers, Northwestern University Medical School, Massachusetts General Hospital, Duke University Medical Center and Vanderbilt University Medical Center. This study will identify additional genes that cause or predispose to ALS, and contribute to the understanding of the biology of the motor neuron. This study will be a major contribution to our ultimate goal, which is to develop rational therapy for ALS based on the causes and mechanism of disease.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Project (R01)
Project #
1R01NS037912-01
Application #
2689577
Study Section
Special Emphasis Panel (ZNS1-SRB-K (02))
Program Officer
Kerza-Kwiatecki, a P
Project Start
1998-05-15
Project End
2003-04-30
Budget Start
1998-05-15
Budget End
1999-04-30
Support Year
1
Fiscal Year
1998
Total Cost
Indirect Cost
Name
Northwestern University at Chicago
Department
Neurology
Type
Schools of Medicine
DUNS #
005436803
City
Chicago
State
IL
Country
United States
Zip Code
60611
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Aksoy, Hatice; Dean, Geoffrey; Elian, Marta et al. (2003) A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis. Neuroepidemiology 22:235-8

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