lunes, 26 de diciembre de 2011

National Guideline Clearinghouse | EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

Guideline Title

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

Bibliographic Source(s)

Gasser T, Finsterer J, 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, Harbo HF, European Federation of Neurological Societies. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol 2010 Feb;17(2):179-88. [36 references] PubMed External Web Site Policy

Guideline Status

This is the current release of the guideline.

full-text:
National Guideline Clearinghouse EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

Eur J Neurol. 2010 Feb;17(2):179-88. Epub 2009 Dec 28.

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

Gasser T, Finsterer J, 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, Harbo HF; EFNS.

Source

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. thomas.gasser@uni-tuebingen.de

Abstract

BACKGROUND AND PURPOSE:

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.

METHODS:

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.

RESULTS AND CONCLUSION:

This paper provides updated guidelines for molecular diagnosis of two particularly complex groups of disorders, the ataxias and spastic paraplegias. Possibilities and limitations of molecular genetic diagnosis of these disorders are evaluated and recommendations are provided.