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. 2002 Mar;70(3):763-9.
doi: 10.1086/338933. Epub 2001 Dec 31.

A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13

I A Meijer  1 , C K Hand, K K Grewal, M G Stefanelli, E J Ives, G A Rouleau
Affiliations

A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13

I A Meijer et al. Am J Hum Genet. 2002 Mar.

Abstract

The hereditary spastic ataxias (HSA) are a group of clinically heterogeneous neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia. HSA was diagnosed in three unrelated autosomal dominant families from Newfoundland, who presented mainly with severe leg spasticity, dysarthria, dysphagia, and ocular-movement abnormalities. A genomewide scan was performed on one family, and linkage to a novel locus for HSA on chromosome 12p13, which contains the as-yet-unidentified gene locus SAX1, was identified. Fine mapping confirmed linkage in the two large families, and the third, smaller family showed LOD scores suggestive of linkage. Haplotype construction by use of 13 polymorphic markers revealed that all three families share a disease haplotype, which key recombinants and overlapping haplotypes refine to about 5 cM, flanked by markers D12S93 and GATA151H05. SAX1 is the first locus mapped for autosomal dominant HSA.

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Figures

Figure 1
Figure 1
Informative section of family 71, with the chromosome 12p13 haplotype. The disease haplotype for HSA is indicated by the blackened bar. Affected individuals are indicated by blackened symbols, unaffected individuals are indicated by unblackened symbols, and key recombinants (VI:4 and VI:13) are indicated by an asterisk (*). These recombinants determined the critical interval to be 10 cM, flanked by markers D12S1685 and GATA151H05.
Figure 2
Figure 2
Informative section of family 13, with the chromosome 12p13 haplotype. The disease haplotype for HSA is indicated by the blackened bar. Affected individuals are indicated by blackened symbols, unaffected individuals are indicated by unblackened symbols, key recombinants (V:14 and VI:11) are indicated by an asterisk (*), and possibly affected individuals are indicated by a question mark (?). These recombinants determined the critical region to be 8 cM, flanked by markers D12S1725 and D12S397.
Figure 3
Figure 3
Informative section of family 27, with the chromosome 12p13 haplotype. The disease haplotype for HSA is indicated by the blackened bar. Affected individuals are indicated by blackened symbols, and unaffected individuals are indicated by unblackened symbols. Individual III:4 shares the complete haplotype and is unaffected.
See this image and copyright information in PMC

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References

Electronic-Database Information

    1. Center for Medical Genetics, Marshfield Medical Research Foundation, http://research.marshfieldclinic.org/genetics/
    1. Cooperative Human Linkage Center, The, http://lpg.nci.nih.gov/CHLC/
    1. Fondation Jean Dausset–CEPH, http://www.cephb.fr/
    1. Genome Database, The, http://www.gdb.org/
    1. HUGO Gene Nomenclature Committee, http://www.gene.ucl.ac.uk/nomenclature/

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