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

Nat Genet. 1994 Jul;7(3):425-8. doi: 10.1038/ng0794-425.


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 theta = 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Amyotrophic Lateral Sclerosis / classification
  • Amyotrophic Lateral Sclerosis / genetics*
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics*
  • Consanguinity
  • Female
  • Genes, Recessive*
  • Genetic Markers
  • Haplotypes / genetics
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length
  • Repetitive Sequences, Nucleic Acid
  • Tunisia / epidemiology


  • Genetic Markers