Back to Search Start Over

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

Authors :
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
Yoshiaki Honma
Source :
Brain: A Journal of Neurology. Sep2007, Vol. 130 Issue 9, p2302-2302. 1p.
Publication Year :
2007

Abstract

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)’. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00068950
Volume :
130
Issue :
9
Database :
Academic Search Index
Journal :
Brain: A Journal of Neurology
Publication Type :
Academic Journal
Accession number :
26418277
Full Text :
https://doi.org/10.1093/brain/awm036