Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35

Afif Hentati, Khemissa Bejaoui, Margaret A. Pericak-Vance, Faycal Hentati, Marcy C. Speer, Wu Yen Hung, Denise A. Figlewicz, Jonathan Haines, Jackie Rimmler, Christiane Ben Hamida, Mongi Ben Hamida, Robert H. Brown, Teepu Siddique

Research output: Contribution to journalArticle

182 Scopus citations

Abstract

Amyotrophic lateral sclerosis (ALS) usually presents as a sporadic disorder of motor neurons. However, familial forms of ALS have been described - autosomal dominant forms (ALS1, ALS3), clinically indistinguishable from the sporadic form, and autosomal recessive forms with early onset and slower progression of symptoms (ALS2). To localize the gene for one of the autosomal recessive forms of ALS, we applied linkage analysis to a large inbred family from Tunisia. A lod score maximum of Z(max)=8.2 at 0=0.00 was obtained with marker D2S72 located on chromosome 2q33-q35. The fine mapping of this region suggested that the ALS2 locus lies in the 8 cM segment flanked by D2S155 and D2S115.

Original languageEnglish (US)
Pages (from-to)425-428
Number of pages4
JournalNature genetics
Volume7
Issue number3
DOIs
StatePublished - Jul 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Hentati, A., Bejaoui, K., Pericak-Vance, M. A., Hentati, F., Speer, M. C., Hung, W. Y., Figlewicz, D. A., Haines, J., Rimmler, J., Hamida, C. B., Hamida, M. B., Brown, R. H., & Siddique, T. (1994). Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35. Nature genetics, 7(3), 425-428. https://doi.org/10.1038/ng0794-425