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Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths

MedGen UID:: 865154
•Concept ID:: C4016717
•: Finding

Synonym:	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, WITH FOCALLY FOLDED MYELIN SHEATHS

OMIM®:	601097

Recent clinical studies

Etiology

Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).

Gambardella A, Bono F, Muglia M, Valentino P, Quattrone A
Ann N Y Acad Sci 1999 Sep 14;883:47-55. PMID: 10586229

Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).

Gambardella A, Bolino A, Muglia M, Valentino P, Bono F, Oliveri RL, Sabatelli M, Brancolini V, Van Broeckhoven C, Romeo G, Devoto M, Quattrone A
Neurology 1998 Mar;50(3):799-801. doi: 10.1212/wnl.50.3.799. PMID: 9521281

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing.

Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M
Hum Mol Genet 1996 Jul;5(7):1051-4. doi: 10.1093/hmg/5.7.1051. PMID: 8817346

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Diagnosis

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.

Roos A, Weis J, Korinthenberg R, Fehrenbach H, Häusler M, Züchner S, Mache C, Hubmann H, Auer-Grumbach M, Senderek J
J Peripher Nerv Syst 2015 Mar;20(1):52-9. doi: 10.1111/jns.12106. PMID: 25676889

Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.

Negrão L, Almendra L, Ribeiro J, Matos A, Geraldo A, Pinto-Basto J
Acta Myol 2014 Dec;33(3):144-8. PMID: 25873783 Free PMC Article

A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies.

Iida M, Koike H, Ando T, Sugiura M, Yamamoto M, Tanaka F, Sobue G
Neuromuscul Disord 2012 Feb;22(2):166-9. Epub 2011 Sep 21 doi: 10.1016/j.nmd.2011.08.005. PMID: 21940171

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C
Neurology 1999 Jun 10;52(9):1827-32. doi: 10.1212/wnl.52.9.1827. PMID: 10371530

MRI of skeletal muscles in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths.

Bono F, Gambardella A, Oliveri RL, Aguglia U, Zappia M, Tamburrini O, Quattrone A
Eur Neurol 1998;39(3):191-2. PMID: 9605401

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Therapy

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.

Nelis E, Erdem S, Tan E, Löfgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H
Neuromuscul Disord 2002 Nov;12(9):869-73. doi: 10.1016/s0960-8966(02)00046-9. PMID: 12398840

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Prognosis

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schöneborn S, Büttner R, Buchheim E, Zerres K
Hum Mol Genet 2003 Feb 1;12(3):349-56. doi: 10.1093/hmg/ddg030. PMID: 12554688

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Clinical prediction guides

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schöneborn S, Büttner R, Buchheim E, Zerres K
Hum Mol Genet 2003 Feb 1;12(3):349-56. doi: 10.1093/hmg/ddg030. PMID: 12554688

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

Othmane KB, Johnson E, Menold M, Graham FL, Hamida MB, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance M, Hentati F, Vance JM
Genomics 1999 Dec 15;62(3):344-9. doi: 10.1006/geno.1999.6028. PMID: 10644431

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Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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