National Guideline Clearinghouse | EFNS guidelines on the molecular diagnosis of mitochondrial disorders.

Guideline Title
EFNS guidelines on the molecular diagnosis of mitochondrial disorders.

Bibliographic Source(s)
Finsterer J, Harbo HF, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schols L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Gasser T, European Federation of Neurological Sciences. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol 2009 Dec;16(12):1255-64. [33 references] PubMed

Guideline Status
This is the current release of the guideline.

This guideline updates a previous version: Angelini C, Federico A, Reichmann H, Lombes A, Chinnery P, Turnbull D. Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders. Eur J Neurol 2006 Sep;13(9):923-9.


full-text:
National Guideline Clearinghouse | EFNS guidelines on the molecular diagnosis of mitochondrial disorders.





Eur J Neurol. 2009 Dec;16(12):1255-64.
EFNS guidelines on the molecular diagnosis of mitochondrial disorders.
Finsterer J, Harbo HF, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Gasser T; European Federation of Neurological Sciences.
Source
Krankenanstalt Rudolfstiftung, Vienna, Danube University Krems, Krems, Austria.
fifigs1@yahoo.de


Abstract
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.

PMID:19950421[PubMed - indexed for MEDLINE]
EFNS guidelines on the molecular diagnosis of mito... [Eur J Neurol. 2009] - PubMed result