Neuromuscular disorders and peripheral neurology

Section edited by Jens Schmidt

This section encompasses all aspects of neuromuscular disorders. Topics include myasthenia gravis, myopathies, neuropathies and all other inflammatory, metabolic and genetic disorders affecting skeletal muscle, peripheral nerve or neuromuscular transmission.

Previous Page Page 1 of 5 Next Page
  1. Study protocol

    Trial design and rationale for APOLLO, a Phase 3, placebo-controlled study of patisiran in patients with hereditary ATTR amyloidosis with polyneuropathy

    Patisiran is an investigational RNA interference (RNAi) therapeutic in development for the treatment of hereditary ATTR (hATTR) amyloidosis, a progressive disease associated with significant disability, morbid...

    David Adams, Ole B. Suhr, Peter J. Dyck, William J. Litchy, Raina G. Leahy, Jihong Chen, Jared Gollob and Teresa Coelho

    BMC Neurology 2017 17:181

    Published on: 11 September 2017

  2. Research article

    Phenotypic expressions of hereditary Transthyretin Ala97Ser related Amyloidosis (ATTR) in Taiwanese

    The disease course and early signs specific to ATTR Ala97Ser, the most common endemic mutation in Taiwan, have not been well described. Since new medications can slow down the rate of disease progression, the ...

    Hui-Ching Hsu, Ming-Feng Liao, Jung-Lung Hsu, Ai-Lun Lo, Hung-Chou Kuo, Rong-Kuo Lyu, Victor Chien-Chia Wu, Chih-Wei Wang and Long-Sun Ro

    BMC Neurology 2017 17:178

    Published on: 7 September 2017

  3. Research article

    Amyotrophic lateral sclerosis modifies progenitor neural proliferation in adult classic neurogenic brain niches

    Adult neurogenesis persists through life at least in classic neurogenic niches. Neurogenesis has been previously described as reduced in neurodegenerative diseases. There is not much knowledge about is adult n...

    Lucía Galán, Ulises Gómez-Pinedo, Antonio Guerrero, Jose Manuel García-Verdugo and Jorge Matías-Guiu

    BMC Neurology 2017 17:173

    Published on: 6 September 2017

  4. Research article

    Evoked potentials after painful cutaneous electrical stimulation depict pain relief during a conditioned pain modulation

    Conditioned pain modulation (CPM) evaluates the pain modulating effect of a noxious conditioning stimulus (CS) on another noxious test stimulus (TS), mostly based solely on subjective pain ratings. We used pai...

    Oliver Höffken, Özüm S. Özgül, Elena K. Enax-Krumova, Martin Tegenthoff and Christoph Maier

    BMC Neurology 2017 17:167

    Published on: 29 August 2017

  5. Research article

    Neuropathy-specific alterations in a Mexican population of diabetic patients

    Neuropathy is one of the major complications of type 2 diabetes mellitus. Our first aim was to determine the clinical characteristics of a population of diabetic patients with different types of neuropathy. Ou...

    Angélica Carbajal-Ramírez, Rebeca García-Macedo, Carlos Manlio Díaz-García, Carmen Sanchez-Soto, Araceli Méndez Padrón, Jorge Escobedo de la Peña, Miguel Cruz and Marcia Hiriart

    BMC Neurology 2017 17:161

    Published on: 25 August 2017

  6. Case report

    Utility of somatosensory evoked potentials in the assessment of response to IVIG in a long-lasting case of chronic immune sensory polyradiculopathy

    Chronic immune sensory polyradiculopathy (CISP) identifies a progressive acquired peripheral dysimmune neuropathy recognized as a chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) variant. We de...

    Angelo Maurizio Clerici, Eduardo Nobile-Orazio, Marco Mauri, Federico Sergio Squellati and Giorgio Giovanni Bono

    BMC Neurology 2017 17:127

    Published on: 1 July 2017

  7. Research article

    Ethnic differences in the +405 and −460 vascular endothelial growth factor polymorphisms and peripheral neuropathy in patients with diabetes residing in a North London, community in the United Kingdom

    There are marked ethnic differences in the susceptibility to the long-term diabetic vascular complications including sensory neuropathy. The vascular endothelial growth factor (VEGF) +405 (C/G) and −460 (T/C) ...

    Karima Zitouni, Lorna Tinworth and Kenneth Anthony Earle

    BMC Neurology 2017 17:125

    Published on: 29 June 2017

  8. Research article

    Single-fiber electromyography in the orbicularis oculi muscle in patients with ocular myasthenia gravis symptoms: does abnormal jitter predict response to treatment?

    Seronegative ocular myasthenia gravis (OMG) is diagnosed by ocular symptoms with supporting SFEMG, typically of frontalis or extensor digitorum muscles. We aimed to determine the sensitivity and specificity of...

    Goran Rakocevic, Mark Moster and Mary Kay Floeter

    BMC Neurology 2017 17:108

    Published on: 7 June 2017

  9. Case report

    Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder

    Mitochondrial cytochrome c oxidase 2, MT-CO2, encodes one of the three subunits, which form the catalytic core of cytochrome c oxidase (COX), complex IV. Mutations in MT-CO2 are rare a...

    Laura Kytövuori, Mikko Kärppä, Hannu Tuominen, Johanna Uusimaa, Markku Saari, Reetta Hinttala and Kari Majamaa

    BMC Neurology 2017 17:96

    Published on: 18 May 2017

  10. Case report

    A possible role of low regulatory T cells in anti-acetylcholine receptor antibody positive myasthenia gravis after bone marrow transplantation

    Chronic graft-versus-host disease (GVHD) appears several months following allogenic hematopoietic stem cell transplantation (HSCT) and is clinically analogous to autoimmune disorder. Polymyositis is a common n...

    Masahiko Fukatsu, Takenobu Murakami, Hiroshi Ohkawara, Shunichi Saito, Kazuhiko Ikeda, Suguru Kadowaki, Itaru Sasaki, Mari Segawa, Tomoko Soeda, Akihiko Hoshi, Hiroshi Takahashi, Akiko Shichishima-Nakamura, Kazuei Ogawa, Yoshihiro Sugiura, Hitoshi Ohto, Yasuchika Takeishi…

    BMC Neurology 2017 17:93

    Published on: 15 May 2017

  11. Research article

    Effect of tendon vibration during wide-pulse neuromuscular electrical stimulation (NMES) on the decline and recovery of muscle force

    Neuromuscular electrical stimulation (NMES) is commonly used to activate skeletal muscles and reverse muscle atrophy in clinical populations. Clinical recommendations for NMES suggest the use of short pulse wi...

    Vanesa Bochkezanian, Robert U. Newton, Gabriel S. Trajano, Amilton Vieira, Timothy S. Pulverenti and Anthony J. Blazevich

    BMC Neurology 2017 17:82

    Published on: 2 May 2017

  12. Research article

    Clinical predictors for the prognosis of myasthenia gravis

    Clinical predictors for myasthenia gravis relapse and ocular myasthenia gravis secondary generalization during the first two years after disease onset remain incompletely identified. This study attempts to inv...

    Lili Wang, Yun Zhang and Maolin He

    BMC Neurology 2017 17:77

    Published on: 19 April 2017

  13. Case report

    Conjugal amyotrophic lateral sclerosis: a case report from Scotland

    Conjugal amyotrophic lateral sclerosis is rare, with significant effects on psychological and care needs. We report a case of conjugal amyotrophic lateral sclerosis disease from central Scotland. This case is ...

    P. M. Fernandes, M. R. Macleod, A. Bateman, S. Abrahams and S. Pal

    BMC Neurology 2017 17:64

    Published on: 29 March 2017

  14. Research article

    Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy

    Reports on the clinical meaningfulness of outcome measures in spinal muscular atrophy (SMA) are rare. In this two-part study, our aim was to explore patients’ and caregivers’ views on the clinical relevance of...

    Maria C. Pera, Giorgia Coratti, Nicola Forcina, Elena S. Mazzone, Mariacristina Scoto, Jacqueline Montes, Amy Pasternak, Anna Mayhew, Sonia Messina, Maria Sframeli, Marion Main, Robert Muni Lofra, Tina Duong, Danielle Ramsey, Sally Dunaway, Rachel Salazar…

    BMC Neurology 2017 17:39

    Published on: 23 February 2017

  15. Research article

    Non-neuronal cholinergic activity is potentiated in myasthenia gravis

    Non–neuronal acetylcholine (ACh) restricts autoimmune responses and attenuates inflammation by cholinergic anti-inflammation pathway. To date, the implication of ACh in myasthenia gravis (MG) remained unexplor...

    Bin Han, Chao Zhang, Shoufeng Liu, Yiping Xia, Hao Sun, Zhongying Gong, Alain R. Simard, Qiang Liu and Junwei Hao

    BMC Neurology 2017 17:28

    Published on: 8 February 2017

Previous Page Page 1 of 5 Next Page