Journal Article

Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3–q23.3

Takayoshi Shimohata, Kenju Hara, Kazuhiro Sanpei, Jin-ichi Nunomura, Tetsuya Maeda, Izumi Kawachi, Masato Kanazawa, Kensaku Kasuga, Akinori Miyashita, Ryozo Kuwano, Koichi Hirota, Shoji Tsuji, Osamu Onodera, Masatoyo Nishizawa and Yoshiaki Honma

in Brain

Published on behalf of The Guarantors of Brain

Volume 130, issue 9, pages 2302-2309
Published in print September 2007 | ISSN: 0006-8950
Published online April 2007 | e-ISSN: 1460-2156 | DOI:
Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3–q23.3

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Autosomal dominant choreas are genetically heterogeneous disorders including Huntington disease (HD), Huntington disease like 1 (HDL1), Huntington disease like 2 (HDL2), dentatorubro-pallidoluysian atrophy (DRPLA), spinocerebellar ataxia type 17 (SCA17) and benign hereditary chorea (BHC). We identified two Japanese families with adult-onset benign chorea without dementia inherited in an autosomal dominant pattern. All affected individuals presented slowly progressive choreic movements in their upper and lower extremities, trunk and head with an age of onset ranging from 40 to 66 (average 54.3), which were markedly improved by haloperidol. The affected individuals also developed reduced muscle tones in their extremities. The findings obtained in the brain CT or MRI studies of nine affected individuals were normal. These clinical features resemble those of the so-called ‘senile chorea’. HD, HDL1, HDL2, DRPLA, SCA17 and BHC caused by mutations in the TITF-1 gene were excluded by mutational and linkage analyses. A genome-wide linkage analysis revealed linkage to chromosome 8q21.3–q23.3 with a maximum cumulative two-point log of the odds (LOD) score of 4.74 at D8S1784 (θ = 0.00). Haplotype analysis of both the families defined the candidate region as 21.5 Mb interval flanked by M9267 and D8S1139. We named this adult-onset dominant inherited chorea ‘benign hereditary chorea type 2 (BHC2)’.

Keywords: benign hereditary chorea; autosomal dominant inheritance; adult-onset; linkage analysis; chromosome 8q21.3–23.3

Journal Article.  4207 words.  Illustrated.

Subjects: Neurology ; Neuroscience

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