EFNS guidelines on the molecular diagnosis of mitochondrial disorders

被引：48

作者：

Finsterer, J. ^{[1
,2
]}

Harbo, H. F. ^{[3
,4
]}

Baets, J. ^{[5
,6
,7
]}

Van Broeckhoven, C. ^{[6
,7
]}

Di Donato, S.

Fontaine, B. ^{[9
]}

De Jonghe, P. ^{[5
,6
,7
]}

Lossos, A. ^{[10
]}

Lynch, T. ^{[11
,12
]}

Mariotti, C. ^{[8
]}

Schoels, L. ^{[13
]}

Spinazzola, A. ^{[15
]}

Szolnoki, Z. ^{[16
]}

Tabrizi, S. J. ^{[17
,18
]}

Tallaksen, C. M. E. ^{[19
]}

Zeviani, M. ^{[15
]}

Burgunder, J. -M. ^{[20
]}

Gasser, T. ^{[14
]}

机构：

[1] Krankenanstalt Rudolfstiftung Wien, Vienna, Austria

[2] Danube Univ Krems, Krems, Austria

[3] Oslo Univ Hosp, Dept Neurol, Oslo, Norway

[4] Univ Oslo, Fac Div Ulleval, Oslo, Norway

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

[6] VIB, Dept Mol Genet, Antwerp, Belgium

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

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

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

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

[11] Mater Misericordiae Univ, Dublin Neurol Inst, Beaumont Hosp, Dublin, Ireland

[12] Mater Misericordiae Univ, Dublin Neurol Inst, Mater Private Hosp, Dublin, Ireland

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

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

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

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

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

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

[19] Univ Oslo, Univ Hosp, Fac Div Ulleval, Oslo, Norway

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

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2009年 / 16卷 / 12期

关键词：

encephalomyopathies; hereditary disease; metabolic myopathies; mitochondrial myopathy; molecular genetics; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; INHERITED NEUROLOGIC DISEASES; CYTOCHROME-C-OXIDASE; MULTIPLE DELETIONS; GENE-MUTATIONS; LEIGH-DISEASE; TASK-FORCE; PARTS; DNA; DEFICIENCY;

D O I：

10.1111/j.1468-1331.2009.02811.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objectives: These European Federation of Neurological Sciences (EFNS) guidelines are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics for diagnosing mitochondrial disorders (MIDs), which gain increasing attention and are more frequently diagnosed due to improved diagnostic tools. Background: Since the publication of the first EFNS guidelines on the molecular diagnosis of inherited neurological diseases in 2001, rapid progress has been made in this field, necessitating the creation of an updated version. Search strategy: To collect data about the molecular diagnosis of MIDs search for literature in various electronic databases, such as Cochrane library, MEDLINE, OMIM, GENETEST or Embase, were carried out and original papers, meta-analyses, review papers, and guideline recommendations were reviewed. Results: The guidelines summarise the possibilities and limitations of molecular genetic diagnosis of MIDs and provide practical recommendations and diagnostic criteria in accordance with the EFNS Scientific Committee to guide the molecular diagnostic work-up of MIDs. Recommendations: The proposed guidelines suggest an approach to the molecular diagnosis of MIDs in a manner accessible to general neurologists.

引用

页码：1255 / 1264

页数：10

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