Abstract
Autosomal dominant cerebeller ataxias (ADCAs) are a heterogeneous group of neurodegenerative disorders that differ in both the clinical manifestations and modes of inheritance. At present, eight different genes causing ADCAs have been found: spinocerebeller ataxia type 1 (SCA1), SCA2, SCA3/Machado-Joseph disease (MJD), SCA6, SCA7, SCA8, SCA12 and dentatorubropallidoluysian atrophy (DRPLA). The relative prevalence of each mutation varies according to race and native place. We studied 117 unrelated ADCA families that originated from the Tohoku District in the northernmost part of Honshu Island in Japan (mainly Miyagi Prefecture in the central part of Tohoku District). The SCA1 mutation was the most frequent among the known disorders (24.8% of all such families). The relative prevalence of SCA1 in the Tohoku District is very high compared with the values already reported from other regions in the world. Because the population of this area had seldom moved, the alleles with SCA1 mutations (including alleles with an intermediate CAG repeat number) are assumed to have been present in this area for a long time. (C) 2000 Elsevier Science B.V.
| Original language | English |
|---|---|
| Pages (from-to) | 153-158 |
| Number of pages | 6 |
| Journal | Journal of the Neurological Sciences |
| Volume | 178 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Sep 15 2000 |
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Keywords
- Autosomal dominant
- Japan
- SCA1
- Spinocerebeller ataxia
ASJC Scopus subject areas
- Ageing
- Clinical Neurology
- Surgery
- Neuroscience(all)
- Developmental Neuroscience
- Neurology
Cite this
High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan. / Onodera, Y.; Aoki, M.; Tsuda, T.; Kato, H.; Nagata, T.; Kameya, T.; Abe, Koji; Itoyama, Y.
In: Journal of the Neurological Sciences, Vol. 178, No. 2, 15.09.2000, p. 153-158.Research output: Contribution to journal › Article
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TY - JOUR
T1 - High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan
AU - Onodera, Y.
AU - Aoki, M.
AU - Tsuda, T.
AU - Kato, H.
AU - Nagata, T.
AU - Kameya, T.
AU - Abe, Koji
AU - Itoyama, Y.
PY - 2000/9/15
Y1 - 2000/9/15
N2 - Autosomal dominant cerebeller ataxias (ADCAs) are a heterogeneous group of neurodegenerative disorders that differ in both the clinical manifestations and modes of inheritance. At present, eight different genes causing ADCAs have been found: spinocerebeller ataxia type 1 (SCA1), SCA2, SCA3/Machado-Joseph disease (MJD), SCA6, SCA7, SCA8, SCA12 and dentatorubropallidoluysian atrophy (DRPLA). The relative prevalence of each mutation varies according to race and native place. We studied 117 unrelated ADCA families that originated from the Tohoku District in the northernmost part of Honshu Island in Japan (mainly Miyagi Prefecture in the central part of Tohoku District). The SCA1 mutation was the most frequent among the known disorders (24.8% of all such families). The relative prevalence of SCA1 in the Tohoku District is very high compared with the values already reported from other regions in the world. Because the population of this area had seldom moved, the alleles with SCA1 mutations (including alleles with an intermediate CAG repeat number) are assumed to have been present in this area for a long time. (C) 2000 Elsevier Science B.V.
AB - Autosomal dominant cerebeller ataxias (ADCAs) are a heterogeneous group of neurodegenerative disorders that differ in both the clinical manifestations and modes of inheritance. At present, eight different genes causing ADCAs have been found: spinocerebeller ataxia type 1 (SCA1), SCA2, SCA3/Machado-Joseph disease (MJD), SCA6, SCA7, SCA8, SCA12 and dentatorubropallidoluysian atrophy (DRPLA). The relative prevalence of each mutation varies according to race and native place. We studied 117 unrelated ADCA families that originated from the Tohoku District in the northernmost part of Honshu Island in Japan (mainly Miyagi Prefecture in the central part of Tohoku District). The SCA1 mutation was the most frequent among the known disorders (24.8% of all such families). The relative prevalence of SCA1 in the Tohoku District is very high compared with the values already reported from other regions in the world. Because the population of this area had seldom moved, the alleles with SCA1 mutations (including alleles with an intermediate CAG repeat number) are assumed to have been present in this area for a long time. (C) 2000 Elsevier Science B.V.
KW - Autosomal dominant
KW - Japan
KW - SCA1
KW - Spinocerebeller ataxia
UR - http://www.scopus.com/inward/record.url?scp=0034665265&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0034665265&partnerID=8YFLogxK
U2 - 10.1016/S0022-510X(00)00390-7
DO - 10.1016/S0022-510X(00)00390-7
M3 - Article
C2 - 11018707
AN - SCOPUS:0034665265
VL - 178
SP - 153
EP - 158
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 2
ER -