@article{bfc888c948294016a48fb30763a4919c,
title = "DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)",
abstract = "Juvenile amyotrophic lateral sclerosis (ALS4) is a rare autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS) characterized by distal muscle weakness and atrophy, normal sensation, and pyramidal signs. Individuals affected with ALS4 usually have an onset of symptoms at age <25 years, a slow rate of progression, and a normal life span. The ALS4 locus maps to a 1.7-Mb interval on chromosome 9q34 flanked by D9S64 and D9S1198. To identify the molecular basis of ALS4, we tested 19 genes within the ALS4 interval and detected missense mutations (T3I, L389S, and R2136H) in the Senataxin gene (SETX). The SETX gene encodes a novel 302.8-kD protein. Although its function remains unknown, SETX contains a DNA/RNA helicase domain with strong homology to human RENT1 and IGHMBP2, two genes encoding proteins known to have roles in RNA processing. These observations of ALS4 suggest that mutations in SETX may cause neuronal degeneration through dysfunction of the helicase activity or other steps in RNA processing.",
author = "Chen, {Ying Zhang} and Bennett, {Craig L.} and Huynh, {Huy M.} and Blair, {Ian P.} and Imke Puls and Joy Irobi and Ines Dierick and Annette Abel and Kennerson, {Marina L.} and Rabin, {Bruce A.} and Nicholson, {Garth A.} and Michaela Auer-Grumbach and Klaus Wagner and {De Jonghe}, Peter and Griffin, {John W.} and Fischbeck, {Kenneth H.} and Vincent Timmerman and Cornblath, {David R.} and Chance, {Phillip F.}",
note = "Funding Information: The authors are grateful to the patients and family members for their cooperation in this study. This work was supported by National Institutes of Health grant NS42810 (The National Institute of Neurological Disorders and Stroke), the Muscular Dystrophy Association, and the Amyotrophic Lateral Sclerosis Association (United States); the Fund for Scientific Research, the University of Antwerp, the Medical Foundation Queen Elisabeth, the Association Belge contre les Maladies Neuro-Musculaires, and the Interuniversity Attraction Poles program P5/19 of the Belgian Federal Science Policy Office (Belgium); and the Austrian Science Fund (Austria). I.D. is supported by a Ph.D. fellowship of the Institute for Science and Technology, Belgium. ",
year = "2004",
month = jun,
doi = "10.1086/421054",
language = "English (US)",
volume = "74",
pages = "1128--1135",
journal = "American journal of human genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "6",
}