Abstract
Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative conditions that affect large motor neurons of the central nervous system. We have identified a familial juvenile PLS (JPLS) locus overlapping the previously identified ALS2 locus on chromosome 2q33. We report two deletion mutations in a new gene that are found both in individuals with ALS2 and those with JPLS, indicating that these conditions have a common genetic origin. The predicted sequence of the protein (alsin) may indicate a mechanism for motor-neuron degeneration, as it may include several cell-signaling motifs with known functions, including three associated with guanine-nucleotide exchange factors for GTPases (GEFs).
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Amyotrophic Lateral Sclerosis / genetics*
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Base Sequence
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Cloning, Molecular
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DNA Primers
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Female
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Genes, Recessive*
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Genetic Linkage
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Guanine Nucleotide Exchange Factors / chemistry
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Guanine Nucleotide Exchange Factors / genetics*
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Humans
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Male
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Molecular Sequence Data
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Mutation*
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Pedigree
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Reverse Transcriptase Polymerase Chain Reaction
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Sequence Homology, Amino Acid
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Signal Transduction
Substances
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ALS2 protein, human
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DNA Primers
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Guanine Nucleotide Exchange Factors
Associated data
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GENBANK/AB046783
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GENBANK/AC007242
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GENBANK/AC007279
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GENBANK/AC018615
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GENBANK/AF391100
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GENBANK/AI243773
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GENBANK/AK014320
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GENBANK/AK023024
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GENBANK/AU125528
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GENBANK/AW867853
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GENBANK/AW905587
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GENBANK/AW905617
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GENBANK/BE003282
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GENBANK/BE006110
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GENBANK/BE082284
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GENBANK/BE535882
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GENBANK/BF993329