A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia

Movement Disorders

Volumn 15, Issue 5, 2000, Pages 954-959

  Tonolli, Ida ^a   Aurenty, Roselyne ^a   Lee, Robert George ^a,b   Viallet, François ^a,c   Massion, Jean ^a  

^a CNRS   (France)

^b UNIVERSITY OF CALGARY   (Canada)

^c CENTRE HOSPITALIER DU PAYS D AIX   (France)

Author keywords

Genetics; Primary torsion dystonia; Torticollis

Indexed keywords

ADENINE; GUANINE;

ADOLESCENT; ADULT; ARM; ARTICLE; ATLANTOOCCIPITAL JOINT; CHROMOSOME 18; CHROMOSOME 8; CLINICAL ARTICLE; CLINICAL FEATURE; FAMILY; FAMILY HISTORY; GENE DELETION; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; HAPLOTYPE; HUMAN; LARYNX DISORDER; MALE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; TORSION DYSTONIA; TREMOR; UNITED KINGDOM;

ADULT; AGE OF ONSET; BLEPHAROSPASM; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 8; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; FEMALE; GENETIC MARKERS; GREAT BRITAIN; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; SYNDROME; TORTICOLLIS; TREMOR; VIDEOTAPE RECORDING;

EID: 0033814985     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8257(200009)15:5<954::AID-MDS1028>3.0.CO;2-I     Document Type: Article

References (27)

1. Classification of dystonia
2. Human gene for torsion dystonia is located on chromosome 9q32-q34
3. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
4. The DYT1 gene on 9q34 is responsible for most cases of early onset idiopathic torsion dystonia in non-Jews
5. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
6. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families
7. Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution
8. Exclusion of the DYT1 locus in familial torticollis
9. Concepts and classification of dystonia
10. The role of DYT1 in primary torsion dystonia in Europe
11. Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping
12. Easy calculations of lod scores and genetic risks on small computers
13. Cervical dystonia. Clinical findings and associated movement disorders
14. A genetic study of idiopathic focal dystonias
15. Possible risk factors for primary adult onset dystonia: A case-control investigation by the Italian Movement Disorder Study Group
16. Evidence for locus heterogeneity in autosomal dominant dystonia
17. Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia
18. A study of idiopathic torsion dystonia in a non-Jewish family: Evidence for genetic heterogeneity
19. Adult onset idiopathic torsion dystonia is excluded from the DYT1 region (9q34) in a Swedish family
20. Non-DYT1 dystonia in a large Italian family
21. A wry-necked family
22. Adult onset familial cervical dystonia: Report of a family including monozygotic twins
23. A genetic study of idiopathic torsion dystonia in the United Kingdom
24. Trunk and head tremor as isolated manifestations of dystonia
25. A study of hereditary essential tremor
26. Clinical and polymyographic investigation of spasmodic torticolllis
27. Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe