Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

被引：15

作者：

Brancati, F

Defazio, G

Caputo, V

Valente, EM

Pizzuti, A

Livrea, P

Berardelli, A

Dallapiccola, B

机构：

[1] Univ Bari, Policlin, Dipartimento Sci Neurol & Psichiatriche, I-70124 Bari, Italy

[2] Ist CSS Mendel, Rome, Italy

[3] Univ Roma La Sapienza, Dipartimento Med Sperimentale & Patol, Rome, Italy

[4] Inst Neurol, Dept Clin Neurol, London WC1N 3BG, England

[5] Univ Roma La Sapienza, Dipartimento Sci Neurol, Rome, Italy

[6] Univ Roma La Sapienza, Ist Neuromed, Rome, Italy

来源：

MOVEMENT DISORDERS | 2002年 / 17卷 / 02期

关键词：

primary torsion dystonia; focal dystonia; linkage analysis; genetic heterogeneity;

D O I：

10.1002/mds.10077

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYT1, DYT6, DYT7, and DYT13), and the 3-bp deletion in the DYT1 gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family. (C) 2002 Movement Disorder Society.

引用

页码：392 / 397

页数：6

共 22 条

[11]

Fahn S, 1998, Adv Neurol, V78, P1

[12] SPREAD OF SYMPTOMS IN IDIOPATHIC TORSION DYSTONIA [J].

GREENE, P ;

KANG, UJ ;

FAHN, S .

MOVEMENT DISORDERS, 1995, 10 (02) :143-152

[13] Primary torsion dystonia: the search for genes is not over [J].

Jarman, PR ;

del Grosso, N ;

Valente, EM ;

Leube, B ;

Cassetta, E ;

Bentivoglio, AR ;

Waddy, HM ;

Uitti, RJ ;

Maraganore, DM ;

Albanese, A ;

Frontali, M ;

Auburger, G ;

Bressman, SB ;

Wood, NW ;

Nygaard, TG .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1999, 67 (03) :395-397

[14] Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol [J].

Klein, C ;

Pramstaller, PP ;

Castellan, CC ;

Breakefield, XO ;

Kramer, PL ;

Ozelius, LJ .

ANNALS OF NEUROLOGY, 1998, 44 (03) :394-398

[15] 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

[16]

Münchau A, 2000, MOVEMENT DISORD, V15, P954, DOI 10.1002/1531-8257(200009)15:5<954::AID-MDS1028>3.0.CO

[17]

2-I

[18] The early-onset torsion dystonia gene (DYT1) encodes an ATP binding protein [J].

Ozelius, LJ ;

Hewett, JW ;

Page, CE ;

Bressman, SB ;

Kramer, PL ;

Shalish, C ;

deLeon, D ;

Brin, MF ;

Raymond, D ;

Corey, DP ;

Fahn, S ;

Risch, NJ ;

Buckler, AJ ;

Gusella, JF ;

Breakefield, XO .

NATURE GENETICS, 1997, 17 (01) :40-48

[19] Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium [J].

Ozelius, LJ ;

Hewett, J ;

Kramer, P ;

Bressman, SB ;

Shalish, C ;

deLeon, D ;

Rutter, M ;

Risch, N ;

Brin, MF ;

Markova, ED ;

Limborska, SA ;

IvanovaSmolenskaya, IA ;

McCormick, MK ;

Fahn, S ;

Buckler, AJ ;

Gusella, JF ;

Breakefield, XO .

GENOME RESEARCH, 1997, 7 (05) :483-494

[20] HEREDITARY WHISPERING DYSPHONIA [J].

PARKER, N .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1985, 48 (03) :218-224

← 1 2 3 →