Skip to main content
Top
Published in: Journal of Neurology 7/2016

01-07-2016 | Letter to the Editors

EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome

Authors: Elena Gargaun, Andreea Mihaela Seferian, Ruxandra Cardas, Anne-Gaelle Le Moing, Catherine Delanoe, Juliette Nectoux, Isabelle Nelson, Gisèle Bonne, Marie-Thérèse Bihoreau, Jean-François Deleuze, Anne Boland, Cécile Masson, Laurent Servais, Teresa Gidaro

Published in: Journal of Neurology | Issue 7/2016

Login to get access

Excerpt

Dear Sirs, …
Appendix
Available only for authorised users
Literature
1.
go back to reference Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (2001) EGR2 mutation R359 W causes a spectrum of Dejerine–Sottas neuropathy. Neurogenetics 3:153–157CrossRefPubMed Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (2001) EGR2 mutation R359 W causes a spectrum of Dejerine–Sottas neuropathy. Neurogenetics 3:153–157CrossRefPubMed
2.
go back to reference de Heer AM, Merchant SN, Kammeraad JA, Cruysberg JR, Huygen PL, Cremers CW (2012) Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome. Audiol Neurootol 17:219–227CrossRefPubMed de Heer AM, Merchant SN, Kammeraad JA, Cruysberg JR, Huygen PL, Cremers CW (2012) Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome. Audiol Neurootol 17:219–227CrossRefPubMed
3.
go back to reference Dejerine J, Sottas J (1893) Sur la névrite interstitielle, hypertrophique et progressive de l’enfance. C R Soc Biol 45:63–96 Dejerine J, Sottas J (1893) Sur la névrite interstitielle, hypertrophique et progressive de l’enfance. C R Soc Biol 45:63–96
4.
go back to reference Drew AP, Zhu D, Kidambi A, Ly C, Tey S, Brewer MH, Ahmad-Annuar A, Nicholson GA, Kennerson ML (2015) Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Mol Genet Genomic Med 3:143–154CrossRefPubMedPubMedCentral Drew AP, Zhu D, Kidambi A, Ly C, Tey S, Brewer MH, Ahmad-Annuar A, Nicholson GA, Kennerson ML (2015) Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Mol Genet Genomic Med 3:143–154CrossRefPubMedPubMedCentral
5.
go back to reference Im SH, Kim NH (2008) First case of Madras motor neuron disease from Korea. Muscle Nerve 38:941–942CrossRefPubMed Im SH, Kim NH (2008) First case of Madras motor neuron disease from Korea. Muscle Nerve 38:941–942CrossRefPubMed
6.
go back to reference Landrieu P, Baets J, De Jonghe P (2013) Hereditary motor-sensory, motor, and sensory neuropathies in childhood. Handb Clin Neurol 113:1413–1432CrossRefPubMed Landrieu P, Baets J, De Jonghe P (2013) Hereditary motor-sensory, motor, and sensory neuropathies in childhood. Handb Clin Neurol 113:1413–1432CrossRefPubMed
7.
go back to reference Manole A, Fratta P, Houlden H (2014) Recent advances in bulbar syndromes: genetic causes and disease mechanisms. Curr Opin Neurol 27:506–514CrossRefPubMed Manole A, Fratta P, Houlden H (2014) Recent advances in bulbar syndromes: genetic causes and disease mechanisms. Curr Opin Neurol 27:506–514CrossRefPubMed
8.
go back to reference Nalini A, Pandraud A, Mok K, Houlden H (2013) Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown–Vialetto–Van Laere syndrome. J Neurol Sci 334:119–122CrossRefPubMedPubMedCentral Nalini A, Pandraud A, Mok K, Houlden H (2013) Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown–Vialetto–Van Laere syndrome. J Neurol Sci 334:119–122CrossRefPubMedPubMedCentral
10.
go back to reference Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, Mancias P, Papasozomenos S, Miller G, Keppen L, Daentl D, Brophy PJ, Lupski JR (2007) Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics 8:257–262CrossRefPubMed Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, Mancias P, Papasozomenos S, Miller G, Keppen L, Daentl D, Brophy PJ, Lupski JR (2007) Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics 8:257–262CrossRefPubMed
11.
go back to reference Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Lofgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C (1999) Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype. Neurology 52:1827–1832CrossRefPubMed Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Lofgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C (1999) Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype. Neurology 52:1827–1832CrossRefPubMed
12.
go back to reference Warner LE, Svaren J, Milbrandt J, Lupski JR (1999) Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet 8:1245–1251CrossRefPubMed Warner LE, Svaren J, Milbrandt J, Lupski JR (1999) Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet 8:1245–1251CrossRefPubMed
14.
Metadata
Title
EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome
Authors
Elena Gargaun
Andreea Mihaela Seferian
Ruxandra Cardas
Anne-Gaelle Le Moing
Catherine Delanoe
Juliette Nectoux
Isabelle Nelson
Gisèle Bonne
Marie-Thérèse Bihoreau
Jean-François Deleuze
Anne Boland
Cécile Masson
Laurent Servais
Teresa Gidaro
Publication date
01-07-2016
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 7/2016
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-016-8153-9

Other articles of this Issue 7/2016

Journal of Neurology 7/2016 Go to the issue