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Posterior column ataxia and retinitis pigmentosa: A distinct clinical and genetic disorder
Author(s) -
Higgins Joseph J.,
Kluetzman Kerri,
Berciano Jose,
Combarros Onofre,
Loveless Joseph M.
Publication year - 2000
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/1531-8257(200005)15:3<575::aid-mds1023>3.0.co;2-7
Subject(s) - retinitis pigmentosa , ataxia , haplotype , genetics , locus (genetics) , genetic heterogeneity , genetic linkage , biology , population , phenotype , medicine , genotype , neuroscience , gene , environmental health
Autosomal recessive posterior column ataxia and retinitis pigmentosa (PCARP) is a movement disorder that was genetically mapped to a disease locus ( AXPC1 ) on chromosome 1q32‐q31 in an inbred population of Dutch‐German ancestry in the continental United States. We performed genetic linkage analysis and haplotype reconstruction on a different family from Spain with an identical phenotype to determine if the neurologic signs of an early‐onset ataxia, retinitis pigmentosa, and a sensory neuropathy also mapped to the AXPC1 locus. The disease phenotype was linked in the candidate interval with a maximum lod score of 3.56 at a recombination fraction of 0.0 for locus D1S414 . Haplotypes were discordant and suggested that the disease mutation arose independently from at least two populations. These results refine the classification of early‐onset ataxia, abrogate a founder effect for this recessive disorder, and provide evidence that PCARP is a distinct, homogeneous, clinical, and genetic disorder.