Molecular diagnosis of inherited movement disorders -: Movement disorders society task force on molecular diagnosis

被引：32

作者：

Gasser, T

Bressman, S

Dürr, A

Higgins, J

Klockgether, T

Myers, RH

机构：

[1] Univ Tubingen, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

[2] Univ Tubingen, Ctr Neurol, Dept Neurodegenerat Disorders, D-72076 Tubingen, Germany

[3] Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, Germany

[4] Beth Israel Hosp, Dept Neurol, New York, NY USA

[5] Hop La Pitie Salpetriere, INSERM, U289, Dept Genet Cytogenet & Embryol, Paris, France

[6] NYSDOH, Lab Clin Neurogenet, Albany, NY USA

[7] Univ Bonn, Dept Neurol, D-5300 Bonn, Germany

[8] Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA

来源：

MOVEMENT DISORDERS | 2003年 / 18卷 / 01期

关键词：

Huntington's disease; Parkinson's disease; parkinsonism; autosomal recessive ataxias; autosomal dominant cerebellar ataxias; Wilson disease; essential tremor; primary torsion dystonia; genetic testing;

D O I：

10.1002/mds.10338

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

This review is designed to provide practical help for the clinical neurologist to make appropriate use of the possibilities of molecular diagnosis of inherited movement disorders. Huntington's disease, Parkinson's disease and parkinsonian syndromes, ataxias, Wilson disease, essential tremor, dystonias, and other genetic diseases associated with a variety of movement disorders are considered separately. (C) 2002 Movement Disorder Society.

引用

页码：3 / 18

页数：16

共 125 条

[71] Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family [J].

Leube, B ;

Kessler, KR ;

Goecke, T ;

Auburger, G ;

Benecke, R .

MOVEMENT DISORDERS, 1997, 12 (06) :1000-1006

[72] Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA):: neuropathological features [J].

Lönnqvist, T ;

Paetau, A ;

Nikali, K ;

von Boguslawski, K ;

Pihko, H .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1998, 161 (01) :57-65

[73] How familial is familial tremor? The genetic epidemiology of essential tremor [J].

Louis, ED ;

Ottman, R .

NEUROLOGY, 1996, 46 (05) :1200-1205

[74]

Louis ED, 1999, MOVEMENT DISORD, V14, P456, DOI 10.1002/1531-8257(199905)14:3<456::AID-MDS1011>3.0.CO

[75]

2-X

[76] How common is the most common adult movement disorder? Estimates of the prevalence of essential tremor throughout the world [J].

Louis, ED ;

Ottman, R ;

Hauser, WA .

MOVEMENT DISORDERS, 1998, 13 (01) :5-10

[77] Association between early-onset Parkinson's disease and mutations in the parkin gene [J].

Lücking, CB ;

Dürr, A ;

Bonifati, V ;

Vaughan, J ;

De Michele, G ;

Gasser, T ;

Harhangi, BS ;

Meco, G ;

Denèfle, P ;

Wood, NW ;

Agid, Y ;

Brice, A .

NEW ENGLAND JOURNAL OF MEDICINE, 2000, 342 (21) :1560-1567

[78]

LUDECKE B, 1995, HUM GENET, V95, P123

[79] A NOVEL GENE CONTAINING A TRINUCLEOTIDE REPEAT THAT IS EXPANDED AND UNSTABLE ON HUNTINGTONS-DISEASE CHROMOSOMES [J].

MACDONALD, ME ;

AMBROSE, CM ;

DUYAO, MP ;

MYERS, RH ;

LIN, C ;

SRINIDHI, L ;

BARNES, G ;

TAYLOR, SA ;

JAMES, M ;

GROOT, N ;

MACFARLANE, H ;

JENKINS, B ;

ANDERSON, MA ;

WEXLER, NS ;

GUSELLA, JF ;

BATES, GP ;

BAXENDALE, S ;

HUMMERICH, H ;

KIRBY, S ;

NORTH, M ;

YOUNGMAN, S ;

MOTT, R ;

ZEHETNER, G ;

SEDLACEK, Z ;

POUSTKA, A ;

FRISCHAUF, AM ;

LEHRACH, H ;

BUCKLER, AJ ;

CHURCH, D ;

DOUCETTESTAMM, L ;

ODONOVAN, MC ;

RIBARAMIREZ, L ;

SHAH, M ;

STANTON, VP ;

STROBEL, SA ;

DRATHS, KM ;

WALES, JL ;

DERVAN, P ;

HOUSMAN, DE ;

ALTHERR, M ;

SHIANG, R ;

THOMPSON, L ;

FIELDER, T ;

WASMUTH, JJ ;

TAGLE, D ;

VALDES, J ;

ELMER, L ;

ALLARD, M ;

CASTILLA, L ;

SWAROOP, M .

CELL, 1993, 72 (06) :971-983

[80] A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1 [J].

Miyoshi, Y ;

Yamada, T ;

Tanimura, M ;

Taniwaki, T ;

Arakawa, K ;

Ohyagi, Y ;

Furuya, H ;

Yamamoto, K ;

Sakai, K ;

Sasazuki, T ;

Kira, J .

NEUROLOGY, 2001, 57 (01) :96-100

← 3 4 5 6 7 8 9 10 11 12 →