journal article Oct 29, 2012

Genetic epidemiology of Charcot-Marie-Tooth disease

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References
195
[1]
Charcot "Sur une form particulière d'atrophie musculaire progressive, souvant familiale, debutant par les pieds et les jambes, et atteignant plus tard les mains" Rev Méd Paris (1886)
[2]
Tooth (1886)
[3]
Davidenkov "Uber die neurotische Muskelatrophie Charcot-Marie. Klinisch-genetische Studien" Z Ges Neurol Psychiatr (1926)
[4]
Davidenkov "Uber die neurotische Muskelatrophie Charcot-Marie. Klinisch-genetische Studien" Z Ges Neurol Psychiatr (1927) 10.1007/bf02863972
[5]
Kaeser "Scapuloperoneal muscular atrophy" Brain (1965) 10.1093/brain/88.2.407
[6]
Delong "A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features" Arch Neurol (1992) 10.1001/archneur.1992.00530330027010
[7]
Kazakov "What is Davidenkov's scapuloperoneal amyotrophy: is it a myopathic entity or a neurogenic syndrome? What was Davidenkov's opinion concerning this knotty problem?" Neuromuscul Disord (2003) 10.1016/s0960-8966(02)00189-x
[8]
Walter "Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P" Brain (2007) 10.1093/brain/awm039
[9]
Deng "Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4" Nat Genet (2010) 10.1038/ng.509
[10]
Dyck "Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies" Arch Neurol (1968) 10.1001/archneur.1968.00470360025002
[11]
Dyck "Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations" Arch Neurol (1968) 10.1001/archneur.1968.00470360041003
[12]
Davis "The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification" J Genet Hum (1978)
[13]
Harding "Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature" J Neurol Sci (1980) 10.1016/0022-510x(80)90177-x
[14]
Pareyson "Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease" Neuromolecular Med (2006) 10.1385/nmm:8:1-2:3
[15]
Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

Davide Pareyson, Chiara Marchesi

The Lancet Neurology 2009 10.1016/s1474-4422(09)70110-3
[16]
Schroder "Neuropathology of Charcot-Marie-Tooth and related disorders" Neuromolecular Med (2006) 10.1385/nmm:8:1:23
[17]
Sabatelli "Giant axonal neuropathy: report on a case with focal fiber loss" Acta Neuropathol (1992) 10.1007/bf00310034
[18]
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Pascale Bomont, Laurent Cavalier, François Blondeau et al.

Nature Genetics 2000 10.1038/81701
[19]
Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

H. Skre

Clinical Genetics 1974 10.1111/j.1399-0004.1974.tb00638.x
[20]
Bird "Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1" Am J Hum Genet (1982)
[21]
Beckett "Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13" J Neurogenet (1986) 10.3109/01677068609106852
[22]
Vance "Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17" Exp Neurol (1989) 10.1016/s0014-4886(89)80013-5
[23]
Raeymaekers "Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group" Neuromuscul Disord (1991) 10.1016/0960-8966(91)90055-w
[24]
Lupski "DNA duplication associated with Charcot-Marie-Tooth disease type 1A" Cell (1991) 10.1016/0092-8674(91)90613-4
[25]
Patel "The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A" Nat Genet (1992) 10.1038/ng0692-159
[26]
Valentijn "The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A" Nat Genet (1992) 10.1038/ng0692-166
[27]
Timmerman "The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication" Nat Genet (1992) 10.1038/ng0692-171
[28]
Matsunami "Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A" Nat Genet (1992) 10.1038/ng0692-176
[29]
Valentijn "Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A" Nat Genet (1992) 10.1038/ng1292-288
[30]
Hayasaka "Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene" Nat Genet (1993) 10.1038/ng0993-31
[31]
Bergoffen "Connexin mutations in X-linked Charcot-Marie-Tooth disease" Science (1993) 10.1126/science.8266101
[32]
Online Mendelian Inheritance in Man http://www.ncbi.nlm.nih.gov/omim
[33]
Inherited Peripheral Neuropathies Mutation Database http://www.molgen.ua.ac.be/CMTMutations/
[34]
Skre "Neurological signs in a normal population" Acta Neurol Scand (1972) 10.1111/j.1600-0404.1972.tb07577.x
[35]
Skre "Application of a quantitative scoring system in the investigation of some hereditary neurological disorders" Clin Genet (1974) 10.1111/j.1399-0004.1974.tb01678.x
[36]
Dyck "Electronic case-report forms of symptoms and impairments of peripheral neuropathy" Can J Neurol Sci (2002) 10.1017/s0317167100002043
[37]
Shy "Reliability and validity of the CMT neuropathy score as a measure of disability" Neurology (2005) 10.1212/01.wnl.0000156517.00615.a3
[38]
Aarskog "Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies" Hum Genet (2000) 10.1007/s004390000399
[39]
NCBI Genbank Overview http://www.ncbi.nlm.nih.gov/genbank/
[40]
Rozen (2000)
[41]
Dunnen "Nomenclature for the description of human sequence variations" Hum Genet (2001) 10.1007/s004390100505
[42]
Harrower "POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease" Arch Neurol (2008) 10.1001/archneurol.2007.4
[43]
Santoro "A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy" J Neurol (2006) 10.1007/s00415-006-0082-6
[44]
Dejerine "Sur la nevrite interstitielle hypertrophique et progressive de l'enfance" C R Seances Soc Biol Fil (1893)
[45]
Gabreels-Festen "The status of HMSN type III" Neuromuscul Disord (1994) 10.1016/0960-8966(94)90049-3
[46]
Gabreels-Festen "Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients" J Anat (2002) 10.1046/j.1469-7580.2002.00043.x
[47]
Numakura "Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1" J Neurol Sci (2003) 10.1016/s0022-510x(03)00028-5
[48]
Boerkoel "CMT4A: identification of a Hispanic GDAP1 founder mutation" Ann Neurol (2003) 10.1002/ana.10505
[49]
Hayasaka "De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)" Nat Genet (1993) 10.1038/ng1193-266
[50]
Roa "Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A" Nat Genet (1993) 10.1038/ng1093-189

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Published
Oct 29, 2012
Vol/Issue
126
Pages
iv-22
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Cite This Article
G. J. Braathen (2012). Genetic epidemiology of Charcot-Marie-Tooth disease. Acta Neurologica Scandinavica, 126, iv-22. https://doi.org/10.1111/ane.12013