| 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 (theta = 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)'. |
| 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
(Affiliation: Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.)
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| Journal | Brain : a journal of neurology
(Brain)
Vol. 130
Issue Pt 9
Pg. 2302-9
(Sep 2007)
ISSN: 1460-2156 England |
| PMID | 17405764
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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| Topics |
- Aged
- Aged, 80 and over
- Chorea
(genetics, pathology, radiography)
- Chromosome Mapping
- Chromosomes, Human, Pair 8
(genetics)
- Female
- Humans
- Linkage (Genetics)
- Lod Score
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Pedigree
- Tomography, X-Ray Computed
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