(mentions CMT 1A) EFNS guidelines for the molecular diagnosis of neurogenetic

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Eur J Neurol. 2010 May 25

EFNS guidelines for the molecular diagnosis of neurogenetic disorders:

motoneuron, peripheral nerve and muscle disorders.

Burgunder JM, Schöls L, Baets J, Andersen P, Gasser T, Szolnoki Z, Fontaine B,

Van Broeckhoven C, Di Donato S, De Jonghe P, Lynch T, tti C, Spinazzola A,

Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF, Finsterer J.

Department of Neurology, University of Bern, Switzerland.

Abstract

Objectives: These EFNS guidelines on the molecular diagnosis of motoneuron

disorders, neuropathies and myopathies are designed to summarize the

possibilities and limitations of molecular genetic techniques and to provide

diagnostic criteria for deciding when a molecular diagnostic work-up is

indicated.

Search strategy: To collect data about planning, conditions and performance of

molecular diagnosis of these disorders, a literature search in various

electronic databases was carried out and original papers, meta-analyses, review

papers and guideline recommendations reviewed.

Results: The best level of evidence for genetic testing recommendation ( can

be found for the disorders with specific presentations, including familial

amyotrophic lateral sclerosis, spinal and bulbar muscular atrophy,

Charcot-Marie-Tooth 1A, myotonic dystrophy and Duchenne muscular dystrophy.

For a number of less common disorders, a precise description of the phenotype,

including the use of immunologic methods in the case of myopathies, is

considered as good clinical practice to guide molecular genetic testing.

Conclusion: These guidelines are provisional and the future availability of

molecular-genetic epidemiological data about the neurogenetic disorders under

discussion in this article will allow improved recommendation with an increased

level of evidence.