Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

@article{Risch1995GeneticAO,
  title={Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population},
  author={Neil J. Risch and Deborah de Leon and Laurie J. Ozelius and Patricia Kramer and Laura Almasy and Burton Singer and Stanley Fahn and Xandra O. Breakefield and Susan Bressman},
  journal={Nature Genetics},
  year={1995},
  volume={9},
  pages={152-159}
}
We have examined data on six closely linked microsatellite loci on chromosome 9q34 from 59 Ashkenazi Jewish families with idiopathic torsion dystonia (ITD). Our data show that the vast majority (>90%) of early–onset ITD cases in the Ashkenazi population are due to a single founder mutation, which we estimate first appeared approximately 350 years ago. We also show that carriers preferentially originate from the northern part of the historic Jewish Pale of settlement (Lithuania and Byelorussia… 
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
TLDR
The nationwide census of French TOR1A-mutation carriers and the assessment of clinical associated signs demonstrates the scarcity of this disease in France with estimated disease frequency and mutation frequency of 0.13:100,000 and 0.17: 100,000 respectively.
Detailed haplotype analysis in Ashkenazi Jewish and non‐Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations
The DYT1 gene on human chromosome 9q34 appears to be responsible for most cases of early onset primary torsion dystonia (PTD) both in Ashkenazi Jewish (AJ) and in non‐Jewish patients. Previous
Haplotype analysis at the DYT1 Locus in ashkenazi jewish patients with occupational hand dystonia
TLDR
Findings argue against a role for the founder mutation in the DYT1 gene in the etiology of occupational hand dystonia in this ethnic group and suggest excessive, repetitive use may serve as the inciting cause of some focal dystonias.
Genetic Disease in the Ashkenazim: Role of a Founder Effect
TLDR
The origin of the Ashkenazi Jews and the histories of some of the common genetic disorders are defined and the common practice for genetic screening in theAshkenazi Jewish population in Israel nowadays is outlined.
Progressive dystonia with optic atrophy in a Jewish–Iraqi family
TLDR
It is suggested that the combination of progressive dystonia and optic atrophy in a family of 9 children born to consanguineous Israeli-Jewish-Iraqi parents might be due to a yet unidentified genomic, autosomal recessive mutation.
Secondary dystonia and the DYTI gene
TLDR
Clinical diagnostic criteria that include historical information to detect tardive dystonia and perinatal asphyxia discriminate primary dySTONia due to the DYT1 founder mutation, as determined by very strong linkage disequilibrium with a haplotype of 9q34 alleles at surrounding marker loci.
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q
TLDR
The novel mutation reported here, COL4A5 arg1677gln, has been detected in three independently ascertained Ashkenazi-American families, causes a relatively mild form of nephritis with typical onset in the fourth or fifth decade, and may be involved in the etiology of a large proportion of adult-onset hereditary nephitis in Ashkenazar Jews.
Genetic movement disorders in patients of Jewish ancestry.
TLDR
Genetic forms of PD are much more common in patients of Ashkenazi Jewish ancestry with sporadic and familial PD than in the non-Jewish population.
Molecular epidemiology of Tay-Sachs disease.
  • N. Risch
  • Medicine, Biology
    Advances in genetics
  • 2001
TLDR
The frequency of the various mutations underlying Tay-Sachs disease and the related disorders and the frequency of mutations in the same genes in other, non- Jewish populations and non-Ashkenazi Jews, the demographic history of the Ashkenazim in Europe, and the conclusions drawn from mathematical analysis of these data are reviewed.
Exclusion of the DYT1 locus in familial torticollis
TLDR
This study studied two large non‐Jewish families with adult‐onset ITD limited to the cervical and brachial muscles and excluded the DYT1‐containing region, suggesting that other genes are responsible for focal adult‐onset ITD.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 35 REFERENCES
Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance.
TLDR
The high incidence and dominant inheritance of early-onset idiopathic torsion dystonia in Ashkenazi Jews suggests genetic homogeneity within this population, making it especially useful for linkage studies of this disorder.
Inheritance of idiopathic torsion dystonia among Jews.
TLDR
It may be inappropriate to assume that all cases have the same genetic basis, or even that all are inherited, when data gathered in a nationwide survey of ITD in Israel were analysed.
Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation
TLDR
There are clinical differences between Ashkenazi Jewish individuals with idiopathic torsion dystonia who do or do not have a unique DYT1 mutation, as determined by a DyT1‐associated haplotype of 9q34 alleles.
A genetic study of idiopathic torsion dystonia in the United Kingdom.
TLDR
It is concluded that, in the UK, approximately 85% of cases of ITD are due to an autosomal dominant gene with about 40% penetrance and highly variable expression, possibly reflecting environmental influences.
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34
TLDR
Linkage analysis using DNA polymorphisms is used to locate a gene responsible for susceptibility to ITD in 12 Ashkenazi Jewish families, and this dystonia gene exhibits close linkage with the gene encoding argininosuccinate synthetase (ASS), and appears to lie in the q32–34 region of chromosome 9.
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
TLDR
The DYT1 gene responsible for early-onset, idiopathic torsion dystonia in the Ashkenazi Jewish population, as well as in one large non-Jewish family, has been mapped to chromosome 9q32-34 and an allelic association supports the idea that a single mutation event is responsible for most hereditary cases of dystonIA in the Jewish population.
Idiopathic dystonia among ashkenazi jews: Evidence for autosomal dominant inheritance
TLDR
The mode of inheritance of idiopathic torsion dystonia among the Ashkenazim is clarified and rates to illness for first‐and second‐degree relatives are determined and age‐adjusted lifetime risks are calculated.
Tay-Sachs disease: genetic drift among the Ashkenazim Jews.
TLDR
The present retrospective study demonstrates that the currently observed increased gene frequency among these formerly endogamous, highly fecund people is most probably a result of genetic drift.
Human gene for torsion dystonia located on chromosome 9q32-q34
TLDR
This dystonia gene (ITD1) shows tight linkage with the gene encoding gelsolin, an actin binding protein, and appears by multipoint linkage analysis to lie in the q32-q34 region of chromosome 9 between ABO and D9S26, a region that also contains the locus for dopamine-beta-hydroxylase.
Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis
TLDR
The DYS gene is mapped to chromosome 9q31–q33 by linkage with ten DMA markers in 26 families and this localization will permit prenatal diagnosis of DYS in affected families and aid the isolation of the disease gene.
...
1
2
3
4
...