Clinical findings of a myoclonus-dystonia family with two distinct mutations

Neurology

Volumn 59, Issue 8, 2002, Pages 1244-1246

  Doheny, D ^a,e   Danisi, F ^a   Smith, C ^a   Morrison, C ^a   Velickovic, M ^a   De Leon, D ^a   Bressman, S B ^a   Leung, J ^b   Ozelius, L ^c   Klein, C ^d   Breakefield, X O ^b   Brin, M F ^a   Silverman, J M ^a  

^a BETH ISRAEL MEDICAL CENTER   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF LÜBECK   (Germany)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SARCOGLYCAN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DYSTONIA; FEMALE; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; MYOCLONUS; PEDIGREE; PRIORITY JOURNAL;

EID: 0037159182     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.59.8.1244     Document Type: Article

References (10)

1. Gasser T. Inherited myoclonus-dystonia syndrome. Adv Neurol 1998;78:325-334.
2. Klein C, Schilling K, Saunders-Pullman R, et al. A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. Am J Hum Genet 2000;67:1314-1319.
3. Vidailhet M, Tassin J, Durif F, et al. A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q. Neurology 2001;56:1213-1216.
4. Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding E-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001;29:66-69.
5. Klein C, Brin MF, Kramer P, et al. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc Natl Acad Sci USA 1999;96:1-4.
6. Leung J, Klein C, Friedman J, et al. Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001;3:133-143.
7. Nurnberger JI Jr, Blehar MC, Kaufman CA, et al. Diagnostic interview for genetic studies: rationale, unique features, and training. NIMH Genetics Initiative. Arch Gen Psychiatry 1994;51:849-859.
8. Saunders-Pullman R, Shriberg J, Heiman G, et al. The spectrum of myoclonus dystonia: possible association with OCD and alcohol dependence. Neurology 2002;58:242-245.
9. Doheny D, Brin MF, Morrison C, et al. Phenotypic features in myoclonic dystonia in two kindreds. Mov Disord 2000;15: S162.
10. Bressman SB, de Leon D, Kramer PL, et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 1994;36:771-777.