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Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q13–15
Author(s) -
Shibasaki Yoko,
Tanaka Hajime,
Iwabuchi Kiyoshi,
Kawasaki Sari,
Kondo Hiroshi,
Uekawa Kazutoshi,
Ueda Masayuki,
Kamiya Tatsushi,
Katayama Yasuo,
Nakamura Akinori,
Takashima Hiroshi,
Nakagawa Masanori,
Masuda Masayuki,
Utsumi Hiroya,
Nakamuro Takuya,
Tada Kazuo,
Kurohara Kazuhiro,
Inoue Ken,
Koike Fumihiko,
Sakai Tetsuo,
Tsuji Shoji,
Kobayashi Hisashi
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200007)48:1<108::aid-ana17>3.0.co;2-a
Subject(s) - centimorgan , hereditary spastic paraplegia , genetics , locus (genetics) , genetic linkage , corpus callosum , spastic , chromosome , biology , medicine , psychology , gene mapping , neuroscience , psychiatry , gene , cerebral palsy , phenotype
To date, three loci for autosomal recessive hereditary spastic paraplegia (ARHSP) linked to chromosomes 8p12‐q13, 16qter, and 15q13–15 have been characterized. We have clinically characterized 13 Japanese ARHSP families and performed genetic linkage analyses. All 13 families were classified as having the “complicated” form, which manifests with mental impairment and thin corpus callosum. Linkage to the 8p12‐q13 and 16qter loci was excluded, although 10 of the 13 families showed marker data consistent with linkage to the 15q13–15 locus. The multipoint LOD score of the 10 families linked to chromosome 15 was above 9.00 in the 3‐centimorgan segment flanked by D15S994 and D15S659, with a maximum multipoint LOD score of 9.68 at a position 1.2 centimorgans telomeric from D15S994 to D15S659. We have shown that ARHSP with thin corpus callosum, a subtype of recessive spastic paraplegia, maps to chromosome 15q13–15. Ann Neurol 2000;48:108–112