Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35 (original) (raw)

Nature Genetics volume 7, pages 425–428 (1994)Cite this article

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 Zmax= 8.2 at θ=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 D2S755 and D2S775.

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Authors and Affiliations

  1. Department of Neurology, Northwestern University Medical School, Chicago, Illinois, 60611, USA
    Afif Hentati, Wu-Yen Hung & Teepu Siddique
  2. Institut National de Neurologie, 1006, Tunis, Tunisia
    Afif Hentati, Faycal Hentati, Christiane Ben Hamida & Mongi Ben Hamida
  3. Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, 02129, USA
    Khemissa Bejaoui, Jonathan Haines & Robert H. Brown Jr
  4. Division of Neurology, Duke University Medical Center, Durham, North Carolina, 27710, USA
    Margaret A. Pericak-Vance, Marcy C. Speer & Jackie Rimmler
  5. Neuromuscular Disease Center, University of Rochester Medical Center, Rochester, New York, 14642, USA
    Denise A. Figlewicz
  6. Department of Cell, Molecular and Structural Biology and Northwestern University Institute of Neuroscience, Northwestern University Medical School, Chicago, Illinois, 60611, USA
    Teepu Siddique

Authors

  1. Afif Hentati
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  2. Khemissa Bejaoui
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  3. Margaret A. Pericak-Vance
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  4. Faycal Hentati
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  5. Marcy C. Speer
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  6. Wu-Yen Hung
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  7. Denise A. Figlewicz
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  8. Jonathan Haines
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  9. Jackie Rimmler
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  10. Christiane Ben Hamida
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  11. Mongi Ben Hamida
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  12. Robert H. Brown Jr
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  13. Teepu Siddique
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Hentati, A., Bejaoui, K., Pericak-Vance, M. et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35.Nat Genet 7, 425–428 (1994). https://doi.org/10.1038/ng0794-425

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