EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias

被引：49

作者：

Harbo, H. F. ^{[1
,2
]}

Finsterer, J. ^{[3
]}

Baets, J. ^{[4
,5
,6
]}

Van Broeckhoven, C. ^{[5
,6
]}

Di Donato, S. ^{[7
]}

Fontaine, B. ^{[8
]}

De Jonghe, P. ^{[4
,5
,6
]}

Lossos, A. ^{[9
]}

Lynch, T. ^{[10
]}

Mariotti, C. ^{[11
]}

Schoels, L. ^{[12
]}

Spinazzola, A. ^{[13
]}

Szolnoki, Z. ^{[14
]}

Tabrizi, S. J. ^{[15
,16
]}

Tallaksen, C. ^{[1
,2
]}

Zeviani, M. ^{[13
]}

Burgunder, J. -M. ^{[17
]}

Gasser, T. ^{[18
]}

机构：

[1] Univ Oslo, Dept Neurol, Oslo Univ Hosp, N-0407 Oslo, Norway

[2] Univ Oslo, Fac Div Ulleval, N-0407 Oslo, Norway

[3] Rudolfstiftung & Danube Univ, Dept Neurol, Vienna, Austria

[4] Univ Antwerp Hosp, Dept Neurol, Antwerp, Belgium

[5] Univ Antwerp VIB, Dept Mol Genet, B-2610 Antwerp, Belgium

[6] Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium

[7] Ist Neurol Carlo Besta, Fdn IRCCS, Milan, Italy

[8] Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Canalopathies Musculaires, F-75634 Paris, France

[9] Hadassah Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel

[10] Mater Misericordiae Univ, Dublin Neurol Inst, Beaumont & Mater Private Hosp, Dublin, Ireland

[11] IRCCS Fdn, Neurol Inst Carlo Besta, Unit Biochem & Genet Neurogenet & Metab Dis, Milan, Italy

[12] Univ Tubingen, Ctr Neurol, Tubingen, Germany

[13] IRCCS Fdn Neurol Inst Carlo Besta, Div Mol Neurogenet, Milan, Italy

[14] Pandy Cty Hosp, Dept Neurol & Cerebrovasc Dis, Gyula, Hungary

[15] Inst Neurol, Dept Neurodegenerat Dis, London WC1N 3BG, England

[16] Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England

[17] Univ Bern, Dept Neurol, Bern, Switzerland

[18] Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, Tubingen, Germany

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2009年 / 16卷 / 07期

关键词：

dystonia; EFNS task force; Huntington's disease; molecular diagnosis; neurogenetic; Parkinson disease; INHERITED NEUROLOGIC DISEASES; DOPA-RESPONSIVE DYSTONIA; ALPHA-SYNUCLEIN; MYOCLONUS-DYSTONIA; ASHKENAZI JEWS; GLUCOCEREBROSIDASE GENE; TRINUCLEOTIDE REPEAT; TORSION DYSTONIA; LRRK2; G2019S; TASK-FORCE;

D O I：

10.1111/j.1468-1331.2009.02646.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

These EFNS guidelines on the molecular diagnosis of neurogenetic disorders are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics in diagnosing neurogenetic disorders. Since the publication of the first two EFNS-guideline papers on the molecular diagnosis of neurological diseases in 2001, rapid progress has been made in this field, necessitating an updated series of guidelines. Literature searches were performed before expert members of the task force wrote proposals, which were discussed in detail until final consensus had been reached among all task force members. This paper provides updated guidelines for molecular diagnosis of Huntington's disease, Parkinson's disease and dystonias as well as a general introduction to the topic. Possibilities and limitations of molecular genetic diagnosis of these disorders are evaluated and recommendations are provided.

引用

页码：777 / 785

页数：9

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