EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.
OBJECTIVE
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.


METHODS
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 (B) 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.


CONCLUSIONS
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.
Burgunder
J-M
JM
Department of Neurology, University of Bern, Switzerland.
Schöls
L
L
Clinical Neurogenetics, Hertie-Institute for Clinical Brain Research, and German Center for Neurodegenerative Diseases University of Tübingen, Tübingen, Germany.
Baets
J
J
Department of Neurology, University Hospital of Antwerp, Antwerpen, Belgium.|Department of Molecular Genetics, VIB; Antwerpen, Belgium.|Laboratory of Neurogenetics, Institute Born-Bunge, and University of Antwerp, Antwerpen, Belgium.
Andersen
P
P
Institute of Clinical Neuroscience, Umeå University, Umeå, Sweden.
Gasser
T
T
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, and German Center for Neurodegenerative Diseases of Tübingen, Tübingen, Germany.
Szolnoki
Z
Z
Department of Neurology and Cerebrovascular Diseases, Pandy County Hospital, Gyula, Hungary.
Fontaine
B
B
Assistance Publique-Hôpitaux de Paris, Centre de référence des canalopathies musculaires, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Van Broeckhoven
C
C
Department of Molecular Genetics, VIB; Antwerpen, Belgium.|Laboratory of Neurogenetics, Institute Born-Bunge, and University of Antwerp, Antwerpen, Belgium.
Di Donato
S
S
Fondazione-IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy.
De Jonghe
P
P
Department of Neurology, University Hospital of Antwerp, Antwerpen, Belgium.|Department of Molecular Genetics, VIB; Antwerpen, Belgium.|Laboratory of Neurogenetics, Institute Born-Bunge, and University of Antwerp, Antwerpen, Belgium.
Lynch
T
T
The Dublin Neurological Institute, Mater Misericordiae University, Beaumont & Mater Private Hospitals, Dublin, Ireland.
Mariotti
C
C
Unit of Genetic of Neurodegenerative and Metabolic Diseases, IRCCS Foundation, Neurological Institute Carlo Besta, Milan, Italy.
Spinazzola
A
A
Division of Molecular Neurogenetics, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy.
Tabrizi
S J
SJ
Department of Neurodegenerative Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
Tallaksen
C
C
Department of Neurology, Oslo University Hospital, Ullevål, Oslo; Norway Faculty Division, Ullevål University Hospital, University of Oslo, Oslo, Norway.
Zeviani
M
M
Fondazione-IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy.
Harbo
H F
HF
Department of Neurology, Oslo University Hospital, Ullevål, Oslo; Norway Faculty Division, Ullevål University Hospital, University of Oslo, Oslo, Norway.
Finsterer
J
J
Department of Neurology, KA Rudolfstiftung, Vienna and Danube University Krems, Austria.
D006801:Humans; D025202:Molecular Diagnostic Techniques; D016472:Motor Neuron Disease / Q000175:diagnosis* / Q000235:genetics; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics