Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol

被引：16

作者：

Klein, C

Pramstaller, PP

Castellan, CC

Breakefield, XO

Kramer, PL

Ozelius, LJ

机构：

[1] Massachusetts Gen Hosp, Mol Neurogenet Unit, Charlestown, MA 02129 USA

[2] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA

[3] Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA

[4] Harvard Univ, Sch Med, Program Neurosci, Boston, MA 02115 USA

[5] Reg Gen Hosp, Dept Neurol, Bolzano Bozen, Italy

[6] Reg Gen Hosp, Dept Genet, Bolzano Bozen, Italy

[7] Oregon Hlth Sci Univ, Dept Neurogenet, Portland, OR 97201 USA

来源：

ANNALS OF NEUROLOGY | 1998年 / 44卷 / 03期

关键词：

D O I：

10.1002/ana.410440318

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The gene causing early-onset torsion dystonia (DYT1) has recently been identified, and two new dystonia genes, one for adult-onset focal dystonia (DYT7) and one for a mixed dystonia phenotype (DYT6), have been mapped. We evaluated clinically a family from South Tyrol (Northern Italy) with 6 definitely affected individuals who display an unusually large phenotypic range of dystonic symptoms. We excluded the GAG deletion in the DYT1 gene and linkage to any of the above-mentioned dystonia loci, thus suggesting an as yet undefined dystonia gene in our family.

引用

收藏

页码：394 / 398

页数：5

相关论文

共 14 条

[1] Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families [J].

Almasy, L ;

Bressman, SB ;

Raymond, D ;

Kramer, PL ;

Greene, PE ;

Heiman, GA ;

Ford, B ;

Yount, J ;

deLeon, D ;

Chouinard, S ;

SaundersPullman, R ;

Brin, MF ;

Kapoor, RP ;

Jones, AC ;

Shen, H ;

Fahn, S ;

Risch, NJ ;

Nygaard, TG .

ANNALS OF NEUROLOGY, 1997, 42 (04) :670-673

[2] A STUDY OF IDIOPATHIC TORSION DYSTONIA IN A NON-JEWISH FAMILY - EVIDENCE FOR GENETIC-HETEROGENEITY [J].

BRESSMAN, SB ;

HEIMAN, GA ;

NYGAARD, TG ;

OZELIUS, LJ ;

HUNT, AL ;

BRIN, MF ;

GORDON, MF ;

MOSKOWITZ, CB ;

DELEON, D ;

BURKE, RE ;

FAHN, S ;

RISCH, NJ ;

BREAKEFIELD, XO ;

KRAMER, PL .

NEUROLOGY, 1994, 44 (02) :283-287

[3] Exclusion of the DYT1 locus in familial torticollis [J].

Bressman, SB ;

Warner, TT ;

Almasy, L ;

Uitti, RJ ;

Green, PE ;

Heiman, GA ;

Raymond, D ;

Ford, B ;

deLeon, D ;

Fahn, S ;

Kramer, PL ;

Risch, NJ ;

Maraganore, DM ;

Nygaard, TG ;

Harding, AE .

ANNALS OF NEUROLOGY, 1996, 40 (04) :681-684

[4] DYSTONIA IN ASHKENAZI JEWS - CLINICAL CHARACTERIZATION OF A FOUNDER MUTATION [J].

BRESSMAN, SB ;

DELEON, D ;

KRAMER, PL ;

OZELIUS, LJ ;

BRIN, MF ;

GREENE, PE ;

FAHN, S ;

BREAKEFIELD, XO ;

RISCH, NJ .

ANNALS OF NEUROLOGY, 1994, 36 (05) :771-777

[5] EXCLUSION OF THE DYT1 LOCUS IN A NON-JEWISH FAMILY WITH EARLY-ONSET DYSTONIA [J].

BRESSMAN, SB ;

HUNT, AL ;

HEIMAN, GA ;

BRIN, MF ;

BURKE, RE ;

FAHN, S ;

TRUGMAN, JM ;

DELEON, D ;

KRAMER, PL ;

WILHELMSEN, KC ;

NYGAARD, TG .

MOVEMENT DISORDERS, 1994, 9 (06) :626-632

[6]

Fahn S, 1988, Adv Neurol, V50, P1

[7] Idiopathic, myoclonic and Dopa-responsive dystonia [J].

Gasser, T .

CURRENT OPINION IN NEUROLOGY, 1997, 10 (04) :357-362

[8] ADULT-ONSET IDIOPATHIC TORSION DYSTONIA IS EXCLUDED FROM THE DYT1 REGION (9Q34) IN A SWEDISH FAMILY [J].

HOLMGREN, G ;

OZELIUS, L ;

FORSGREN, L ;

ALMAY, BGL ;

HOLMBERG, M ;

KRAMER, P ;

FAHN, S ;

BREAKEFIELD, XO .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1995, 59 (02) :178-181

[9] Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution [J].

Leube, B ;

Rudnicki, D ;

Ratzlaff, T ;

Kessler, KR ;

Benecke, R ;

Auburger, G .

HUMAN MOLECULAR GENETICS, 1996, 5 (10) :1673-1677

[10] THE VITESSE ALGORITHM FOR RAPID EXACT MULTILOCUS LINKAGE ANALYSIS VIA GENOTYPE SET-RECODING AND FUZZY INHERITANCE [J].

OCONNELL, JR ;

WEEKS, DE .

NATURE GENETICS, 1995, 11 (04) :402-408