Dropped head syndrome as a manifestation of Charcot-Marie-Tooth disease type 4C

被引：5

作者：

de Oliveira, Camila Maria ^{[1
,2
]}

Fussiger, Helena ^{[2
]}

Winckler, Pablo Brea ^{[1
,4
]}

Morales Saute, Jonas Alex ^{[1
,2
,3
,4
]}

机构：

[1] Univ Fed Rio Grande do Sul, Programa Posgrad Med Ciencias Med, Porto Alegre, RS, Brazil

[2] Hosp Clin Porto Alegre, Serv Genet Med, Porto Alegre, RS, Brazil

[3] Univ Fed Rio Grande do Sul, Fac Med, Dept Med Interna, Porto Alegre, RS, Brazil

[4] Hosp Clin Porto Alegre, Serv Neurol, Porto Alegre, RS, Brazil

来源：

NEUROMUSCULAR DISORDERS | 2019年 / 29卷 / 02期

关键词：

Charcot-Marie-Tooth disease type 4C; Dropped head syndrome; CMT; Proximal muscle weakness; CMT4C; SH3TC2; MUTATIONS; PROTEIN; MYELINATION;

D O I：

10.1016/j.nmd.2018.11.010

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Charcot Marie Tooth disease type 4C (CMT4C) is considered the most frequent autosomal recessive form of CMT worldwide, being described as an early-onset disorder with marked clinical heterogeneity. We report a CMT4C case associated with dropped head syndrome and predominant involvement of proximal muscles. An 11-year-old boy born to consanguineous parents presented with predominantly proximal muscle weakness with facial involvement, associated with dropped head and severe scoliosis. Symptoms started at the age of 3 years-old with frequent falls. Nerve conduction studies showed a sensorimotor demyelinating polyneuropathy. A comprehensive multigene next-generation sequencing panel for CMT revealed the homozygous pathogenic missense variant c.1969G > A (p.E657K) in SH3TC2 gene, confirming CMT4C diagnosis. The present report broadens the phenotype associated with CMT4C and raises the importance of considering early-onset inherited polyneuropathies in the differential diagnosis of patients with proximal muscle wasting associated with dropped head syndrome. (C) 2018 Elsevier B.V. All rights reserved.

引用

页码：138 / 141

页数：4

共 21 条

[1] SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system [J].

Arnaud, Estelle ;

Zenker, Jennifer ;

Charles, Anne-Sophie de Preux ;

Stendel, Claudia ;

Roos, Andreas ;

Medard, Jean-Jacques ;

Tricaud, Nicolas ;

Weis, Joachim ;

Suter, Ueli ;

Senderek, Jan ;

Chrast, Roman .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (41) :17528-17533

[2] Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations [J].

Azzedine, H. ;

Ravise, N. ;

Verny, C. ;

Gabreels-Festen, A. ;

Lammens, M. ;

Grid, D. ;

Vallat, J. M. ;

Durosier, G. ;

Senderek, J. ;

Nouioua, S. ;

Hamadouche, T. ;

Bouhouche, A. ;

Guilbot, A. ;

Stendel, C. ;

Ruberg, M. ;

Brice, A. ;

Birouk, N. ;

Dubourg, O. ;

Tazir, M. ;

LeGuern, E. .

NEUROLOGY, 2006, 67 (04) :602-606

[3] Haplotype-specific modulation of a SOX10/CREB response element at the Charcot Marie Tooth disease type 4C locus SH3TC2 [J].

Brewer, Megan Hwa ;

Ma, Ki Hwan ;

Beecham, Gary W. ;

Gopinath, Chetna ;

Baas, Frank ;

Choi, Byung-Ok ;

Reilly, Mary M. ;

Shy, Michael E. ;

Zuechner, Stephan ;

Svaren, John ;

Antonellis, Anthony .

HUMAN MOLECULAR GENETICS, 2014, 23 (19) :5171-5187

[4] The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy [J].

DiVincenzo, Christina ;

Elzinga, Christopher D. ;

Medeiros, Adam C. ;

Karbassi, Izabela ;

Jones, Jeremiah R. ;

Evans, Matthew C. ;

Braastad, Corey D. ;

Bishop, Crystal M. ;

Jaremko, Malgorzata ;

Wang, Zhenyuan ;

Liaquat, Khalida ;

Hoffman, Carol A. ;

York, Michelle D. ;

Batish, Sat D. ;

Lupski, James R. ;

Higgins, Joseph J. .

MOLECULAR GENETICS & GENOMIC MEDICINE, 2014, 2 (06) :522-529

[5] Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies [J].

Dohrn, Maike F. ;

Gloeckle, Nicola ;

Mulahasanovic, Lejla ;

Heller, Corina ;

Mohr, Julia ;

Bauer, Christine ;

Riesch, Erik ;

Becker, Andrea ;

Battke, Florian ;

Hoertnagel, Konstanze ;

Hornemann, Thorsten ;

Suriyanarayanan, Saranya ;

Blankenburg, Markus ;

Schulz, Joerg B. ;

Claeys, Kristl G. ;

Gess, Burkhard ;

Katona, Istvan ;

Ferbert, Andreas ;

Vittore, Debora ;

Grimm, Alexander ;

Wolking, Stefan ;

Schoels, Ludger ;

Lerche, Holger ;

Korenke, G. Christoph ;

Fischer, Dirk ;

Schrank, Bertold ;

Kotzaeridou, Urania ;

Kurlemann, Gerhard ;

Draeger, Bianca ;

Schirmacher, Anja ;

Young, Peter ;

Schlotter-Weigel, Beate ;

Biskup, Saskia .

JOURNAL OF NEUROCHEMISTRY, 2017, 143 (05) :507-522

[6] Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster [J].

Gosselin, Isabelle ;

Thiffault, Isabelle ;

Tetreault, Martine ;

Chau, Vann ;

Dicaire, Marie-Jose ;

Loisel, Lina ;

Emond, Monique ;

Senderek, Jan ;

Mathieu, Jean ;

Dupre, Nicolas ;

Vanasse, Michel ;

Puymrat, Jack ;

Brais, Bernard .

NEUROMUSCULAR DISORDERS, 2008, 18 (06) :483-492

[7] THE DROPPED HEAD SYNDROME WITH CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY [J].

HOFFMAN, D ;

GUTMANN, L .

MUSCLE & NERVE, 1994, 17 (07) :808-810

[8] The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy [J].

Houlden, Henry ;

Laura, Matilde ;

Ginsberg, Lionel ;

Jungbluth, Heinz ;

Robb, Stephanie A. ;

Blake, Julian ;

Robinson, Susan ;

King, Rosalind H. M. ;

Reilly, Mary M. .

NEUROMUSCULAR DISORDERS, 2009, 19 (04) :264-269

[9] Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges [J].

Jerath, Nivedita U. ;

Mankodi, Ami ;

Crawford, Thomas O. ;

Grunseich, Christopher ;

Baloui, Hasna ;

Nnamdi-Emeratom, Chioma ;

Schindler, Alice B. ;

Heiman-Patterson, Terry ;

Chrast, Roman ;

Shy, Michael E. .

MUSCLE & NERVE, 2018, 57 (05) :749-755

[10] Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33 [J].

LeGuern, E ;

Guilbot, A ;

Kessali, M ;

Ravise, N ;

Tassin, J ;

Maisonobe, T ;

Grid, D ;

Brice, A .

HUMAN MOLECULAR GENETICS, 1996, 5 (10) :1685-1688

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