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EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias
Author(s) -
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 S. J.,
Tallaksen C.M.E.,
Zeviani M.,
Burgunder JM.,
Harbo H. F.
Publication year - 2010
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2009.02873.x
Subject(s) - medicine , task force , spastic , task (project management) , hereditary spastic paraplegia , molecular genetics , physical medicine and rehabilitation , genetics , cerebral palsy , management , public administration , biology , political science , economics , gene , phenotype
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.