Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.

Journal of Neurology, Neurosurgery, and Psychiatry
Sinéad M MurphyM M Reilly

Abstract

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases with approximately 45 different causative genes described. The aims of this study were to determine the frequency of different genes in a large cohort of patients with CMT and devise guidelines for genetic testing in practice. The genes known to cause CMT were sequenced in 1607 patients with CMT (425 patients attending an inherited neuropathy clinic and 1182 patients whose DNA was sent to the authors for genetic testing) to determine the proportion of different subtypes in a UK population. A molecular diagnosis was achieved in 62.6% of patients with CMT attending the inherited neuropathy clinic; in 80.4% of patients with CMT1 (demyelinating CMT) and in 25.2% of those with CMT2 (axonal CMT). Mutations or rearrangements in PMP22, GJB1, MPZ and MFN2 accounted for over 90% of the molecular diagnoses while mutations in all other genes tested were rare. Four commonly available genes account for over 90% of all CMT molecular diagnoses; a diagnostic algorithm is proposed based on these results for use in clinical practice. Any patient with CMT without a mutation in these four genes or with an unusual phenotype should be considered for refe...Continue Reading

References

May 4, 2004·Annals of Neurology·Craig L BennettPhillip F Chance
Jun 22, 2006·Journal of the Peripheral Nervous System : JPNS·Philippe LatourIrène Maire
Nov 18, 2009·Journal of Neurology, Neurosurgery, and Psychiatry·M M Reilly, M E Shy
May 21, 2010·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·G J BraathenM B Russell
Feb 1, 2011·Annals of Neurology·Anita S D SaportaMichael E Shy
Feb 5, 2011·Clinical Genetics·P LaššuthováP Seeman
Apr 21, 2011·Journal of the Peripheral Nervous System : JPNS·Mary M ReillyMatilde Laurá
Oct 11, 2011·Journal of Neurology, Neurosurgery, and Psychiatry·Charlotte FoleyRita Horvath
Oct 19, 2011·Journal of the Peripheral Nervous System : JPNS·Sinéad M MurphyDavide Pareyson
Oct 21, 2011·Human Molecular Genetics·Marian A J WetermanFrank Baas

❮ Previous
Next ❯

Citations

Nov 8, 2012·Cellular and Molecular Life Sciences : CMLS·Dong WangP Robin Hiesinger
Jan 18, 2013·Der Nervenarzt·B GessP Young
Apr 23, 2013·Journal of Genetic Counseling·Carly E SiskindKaren M Krajewski
Sep 21, 2013·Lancet Neurology·Davide PareysonMassimo Zeviani
Nov 21, 2012·Genetic Testing and Molecular Biomarkers·Milica P Keckarevic MarkovicStanka Romac
Jun 15, 2012·Journal of Neurology, Neurosurgery, and Psychiatry·Michael E Shy
Jun 5, 2013·Journal of Neurology, Neurosurgery, and Psychiatry·Michael GonzalezUNKNOWN Inherited Neuropathy Consortium
Jan 8, 2013·Molecular Syndromology·H AzzedineR Chrast
Jun 2, 2014·Journal of the Neurological Sciences·Paola CiottiEmilia Bellone
May 23, 2014·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Marco LuigettiMauro Lo Monaco
Dec 17, 2014·Annals of Indian Academy of Neurology·Ashok Verma
Aug 16, 2014·Brain : a Journal of Neurology·Michael A GonzalezMichael E Shy
Nov 16, 2013·Revue neurologique·A Lacour
Feb 16, 2016·The Journal of Clinical Investigation·Sergio GonzalezNicolas Tricaud
Oct 11, 2015·Clinica Chimica Acta; International Journal of Clinical Chemistry·Rui WangYi Wang
Oct 27, 2015·Brain : a Journal of Neurology·Teresa SevillaCarmen Espinós
Jul 16, 2014·BioMed Research International·Helle HøyerMichael B Russell
Oct 21, 2015·Journal of the Neurological Sciences·Chiara FalleriniAlessandra Renieri
Dec 22, 2015·Brain & Development·Chloé Di MeglioBrigitte Chabrol
Oct 24, 2015·Neurobiology of Disease·A M BertholetP Belenguer
Jul 25, 2015·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·T SevillaC Espinós
Sep 14, 2013·Journal of the Peripheral Nervous System : JPNS·Lei LiuRuxu Zhang
Jun 27, 2013·Muscle & Nerve·Christopher J KleinMichael E Shy
May 8, 2013·Muscle & Nerve·Nortina ShahrizailaAzlina Ahmad-Annuar
Mar 19, 2016·Annals of Neurology·Yujiro HiguchiHiroshi Takashima
Jan 24, 2015·Molecular Genetics & Genomic Medicine·Christina DiVincenzoJoseph J Higgins
Jan 8, 2014·Muscle & Nerve·Matilde LauràMary M Reilly
Apr 5, 2014·Clinical Genetics·T Harel, J R Lupski
Aug 22, 2013·Muscle & Nerve·Renee TousignantCarly E Siskind
Aug 8, 2015·Journal of Medical Genetics·Stéphane MathisJean-Michel Vallat
Aug 1, 2015·Neuromuscular Disorders : NMD·Kathryn M BrennanMichael E Shy
Mar 15, 2014·Journal of Neurology·Maria SchabhüttlMichaela Auer-Grumbach
Nov 29, 2014·Journal of the Peripheral Nervous System : JPNS·Fiore ManganelliLucio Santoro
Jun 27, 2015·Journal of the Peripheral Nervous System : JPNS·Aisling S CarrMary M Reilly

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.