Neuromuscular Disorders

Da Eun Nam, Sung-Chul Jung, Da Hye Yoo, Sun Seong Choi, Sung-Yum Seo, Gwang Hoon Kim, Song Ja Kim, Soo Hyun Nam, Byung-Ok Choi, Ki Wha Chung September 6, 2017

Abstract

Mutations in the NEFH gene encoding the heavy neurofilament protein are usually associated with neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS). Recently, frameshift variants in NEFH (p.Asp1004Glnfs*58 and p.Pro1008Alafs*56) have been reported to be the underlying cause of axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC).

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Young B. Hong, Jin-Mo Park, Jin S. Yu, Da H. Yoo, Da E. Nam, Hyung J. Park, Ji-Su Lee, Sun H. Hwang, Ki W. Chung, Byung-Ok Choi September 6, 2017

Abstract

Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families.

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Max E. Adrichem, Markus V. Starink, Ester M. M. van Leeuwen, Christine Kramer, Ivo N. van Schaik, Filip Eftimov September 6, 2017

Abstract

We describe six patients with cutaneous lupus erythematosus (cLE) during immunoglobulin G (IgG) treatment. Five patients were diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) and one patient with possible CIDP. Five patients received intravenous immunoglobulin (IVIg) and one patient received subcutaneous immunoglobulin (SCIg).

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Petya Bogdanova-Mihaylova, Michael D. Alexander, Raymond P. J. Murphy, Sinéad M. Murphy September 6, 2017

Abstract

Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, and Hirschsprung disease.

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Elliot Turkiew, Debbie Falconer, Nicole Reed, Ahmet Höke September 6, 2017

Abstract

Distal axon degeneration seen in many peripheral neuropathies is likely to share common molecular mechanisms with Wallerian degeneration. Although several studies in mouse models of peripheral neuropathy showed prevention of axon degeneration in the slow Wallerian degeneration (Wlds) mouse, the role of a recently identified player in Wallerian degeneration, Sarm1, has not been explored extensively.

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Erik Landfeldt, Peter Lindgren, Michela Guglieri, Volker Straub, Hanns Lochmüller, Katharine Bushby September 6, 2017

The publisher regrets that this article has been temporarily removed. A replacement will appear as soon as possible in which the reason for the removal of the article will be specified, or the article will be reinstated.The full Elsevier Policy on Article Withdrawal can be found at http://www.elsevier.com/locate/withdrawalpolicy.… Read More...

Renata Siciliani Scalco, Jasper M. Morrow, Suzanne Booth, Sherryl Chatfield, Richard Godfrey, Ros Quinlivan September 6, 2017

McArdle disease (GSDV) is an autosomal recessive disorder characterised by the absence of muscle glycogen phosphorylase. The enzyme deficit results in impaired muscle metabolism with symptoms such as exercise intolerance and muscle pain beginning in childhood. Muscle pain occurs within a few minutes of starting physical activity and can lead to muscle contracture and rhabdomyolysis (RM) if that activity persists or is more vigorous.… Read More...

Elizabeth Harris, Umar Burki, Chiara Marini-Bettolo, Marcella Neri, Chiara Scotton, Judith Hudson, Marta Bertoli, Teresinha Evangelista, Bas Vroling, Tuomo Polvikoski, Mark Roberts, Ana Töpf, Kate Bushby, Daniel McArthur, Hanns Lochmüller, Alessandra Ferlini, Volker Straub, Rita Barresi September 6, 2017

Heterozygous mutations in the gene STIM1 have been identified as the cause of Stormorken syndrome, a complex phenotype comprising a bleeding diathesis, asplenia, miosis, ichthyosis, and tubular aggregate myopathy [1–4]. In addition heterozygous STIM1 mutations are reported in non-syndromic tubular aggregate myopathies (TAM) with miosis [5–8] and York platelet syndrome (YPS) [9], a thrombocytopenia disorder [9].… Read More...

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