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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.

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  1. Content type: Case report

    Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of mu...

    Authors: Jing Miao, Xiao-jing Wei, Xue-mei Liu, Zhi-xia Kang, Yan-lu Gao and Xue-fan Yu

    Citation: BMC Neurology 2018 18:154

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  2. Content type: Case report

    Only five patients have previously been reported to harbor mutations in the MT-TT gene encoding mitochondrial tRNA threonine. The m.15923A > G mutation has been found in three severely affected children. One of t...

    Authors: Mikko Kärppä, Laura Kytövuori, Markku Saari and Kari Majamaa

    Citation: BMC Neurology 2018 18:149

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  3. Content type: Research article

    Due to brain plasticity a transection of a median or ulnar nerve results in profound changes in the somatosensory areas in the brain. The permanent sensory deprivation after a peripheral nerve injury might inf...

    Authors: Pernilla Vikström, Anders Björkman, Ingela K. Carlsson, Anna-Karin Olsson and Birgitta Rosén

    Citation: BMC Neurology 2018 18:146

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  4. Content type: Case report

    The cardinal symptoms of auto-immune myasthenia gravis are fatigue and weakness. Endurance events such as marathon running would seem incompatible with this chronic disease. Many patients stop sport altogether...

    Authors: Simone Birnbaum, Tarek Sharshar, Bruno Eymard, Marie Theaudin, Pierre Portero and Jean-Yves Hogrel

    Citation: BMC Neurology 2018 18:145

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  5. Content type: Case report

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized clinically by central nervous system dysfunctions. It is unclear whether CADASIL is involve...

    Authors: Yusuke Sakiyama, Eiji Matsuura, Yoshimitsu Maki, Akiko Yoshimura, Masahiro Ando, Miwa Nomura, Kazuya Shinohara, Ryuji Saigo, Tomonori Nakamura, Akihiro Hashiguchi and Hiroshi Takashima

    Citation: BMC Neurology 2018 18:134

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  6. Content type: Research article

    Cardiac autonomic neuropathy (CAN) in diabetes is among the strongest risk markers for future global and cardiovascular mortality. The aim of this study was to analyse CAN prevalence and to compare the associatio...

    Authors: Anca Moţăţăianu, Smaranda Maier, Zoltan Bajko, Septimiu Voidazan, Rodica Bălaşa and Adina Stoian

    Citation: BMC Neurology 2018 18:126

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  7. Content type: Research article

    Segmental zoster paresis (SZP) of limbs, characterized by focal weakness of extremity, is recognized as a rare complication of herpes zoster (HZ). The following study analyzes the clinical characteristics and ...

    Authors: Ying Liu, Bing-Yun Wu, Zhen-Shen Ma, Juan-Juan Xu, Bing Yang, Heng Li and Rui-Sheng Duan

    Citation: BMC Neurology 2018 18:121

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  8. Content type: Case report

    The motor and sensory symptoms caused by compressive radial neuropathy are well-known, but the involvement of the autonomic nervous system or the dermatologic symptoms are less well known. We report an unusual...

    Authors: Jong Hyeon Ahn, Dae Joong Kim, Jung-Joon Sung, Yoon-Ho Hong, Suk-Won Ahn, Jeong Jin Park and Byung-Nam Yoon

    Citation: BMC Neurology 2018 18:120

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  9. Content type: Case report

    We present a patient fulfilling the electrophysiological criteria for definite chronic inflammatory demyelinating polyneuropathy (CIDP), antibody-positive myasthenia gravis (MG), and membranous glomerulonephri...

    Authors: Saskia Bolz, Andreas Totzeck, Kerstin Amann, Mark Stettner, Christoph Kleinschnitz and Tim Hagenacker

    Citation: BMC Neurology 2018 18:113

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  10. Content type: Case report

    Cutaneous and systemic plasmacytosis are skin disorders characterized by cutaneous polyclonal plasma cell infiltration accompanied by polyclonal hypergammaglobulinemia. Cutaneous plasmacytosis involvement is l...

    Authors: Taku Hatano, Masashi Takanashi, Hitoshi Tsuchihashi, Shin-Ichi Ueno, Arisa Hayashida, Yutaka Tsukune, Kazuaki Kanai, Yasushi Shimo and Nobutaka Hattori

    Citation: BMC Neurology 2018 18:112

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  11. Content type: Case report

    Miller Fisher syndrome (MFS) and Bickerstaff’s Brainstem Encephalitis (BBE) share some clinical features and a common immunological profile characterized by anti-GQ1b antibodies. Some MFS patients overlap with...

    Authors: Angela Puma, Jeanne Benoit, Sabrina Sacconi and Antonino Uncini

    Citation: BMC Neurology 2018 18:101

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  12. Content type: Case report

    Filamin C-related myofibrillar myopathies (MFM) are progressive skeletal myopathies with an autosomal dominant inheritance pattern. The conditions are caused by mutations of the filamin C gene (FLNC) located in t...

    Authors: Jing Miao, Fei-fei Su, Xue-mei Liu, Xiao-jing Wei, Yun Yuan and Xue-fan Yu

    Citation: BMC Neurology 2018 18:79

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  13. Content type: Case report

    POEMS syndrome is a plasma cell disorder, which clinically manifests from paraneoplastic syndrome: polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes. The most comm...

    Authors: Panitha Jindahra, Charungthai Dejthevaporn, Pimjai Niparuck, Jariya Waisayarat, Piyaphon Cheecharoen, Thanatporn Threetong, Purit Petpiroon, Tharikarn Sujirakul, Anuchit Poonyathalang and Kavin Vanikieti

    Citation: BMC Neurology 2018 18:64

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  14. Content type: Study protocol

    Diabetic peripheral neuropathy (DPN) is the most common complication of diabetes mellitus with significant clinical sequelae that can affect a patient’s quality of life. Metabolic and microvascular factors are...

    Authors: Gesa Meyer-Hamme, Thomas Friedemann, Henry Johannes Greten, Rosemarie Plaetke, Christian Gerloff and Sven Schroeder

    Citation: BMC Neurology 2018 18:40

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  15. Content type: Research article

    Neuromuscular electrical stimulation (NMES) is commonly used in skeletal muscles in people with spinal cord injury (SCI) with the aim of increasing muscle recruitment and thus muscle force production. NMES has...

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

    Citation: BMC Neurology 2018 18:17

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  16. Content type: Research article

    Recent studies shows that hyperbaric oxygen (HBO) therapy exerts some protective effects against neural injuries. The purpose of this study was to determine the neuroprotective effects of HBO following sciatic...

    Authors: Zahra Shams, Ali Reza khalatbary, Hassan Ahmadvand, Zohreh Zare and Kosar Kian

    Citation: BMC Neurology 2017 17:220

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  17. Content type: Research article

    Humanistic burden considers the impact of an illness on a patient’s health-related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver QoL. Humanistic burden also conside...

    Authors: Benedikt Schoser, Deborah A. Bilder, David Dimmock, Digant Gupta, Emma S. James and Suyash Prasad

    Citation: BMC Neurology 2017 17:202

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  18. Content type: Research article

    It remains an urgent need for early recognition of disease severity, treatment option and outcome of Guillain-Barré syndrome (GBS). The chief complaint may be quickly obtained in clinic and is one of the candi...

    Authors: Ying Wang, Pei Shang, Meiying Xin, Jing Bai, Chunkui Zhou and Hong-Liang Zhang

    Citation: BMC Neurology 2017 17:200

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  19. Content type: Study protocol

    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...

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

    Citation: BMC Neurology 2017 17:181

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  20. Content type: Research article

    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 ...

    Authors: 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

    Citation: BMC Neurology 2017 17:178

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  21. Content type: Research article

    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...

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

    Citation: BMC Neurology 2017 17:173

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  22. Content type: Research article

    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...

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

    Citation: BMC Neurology 2017 17:167

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  23. Content type: Research article

    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...

    Authors: 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

    Citation: BMC Neurology 2017 17:161

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  24. Content type: Case report

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

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

    Citation: BMC Neurology 2017 17:127

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  25. Content type: Research article

    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) ...

    Authors: Karima Zitouni, Lorna Tinworth and Kenneth Anthony Earle

    Citation: BMC Neurology 2017 17:125

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  26. Content type: Research article

    There are considerable phenotypic and neuroimmune overlaps between myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and multiple sclerosis (MS). While the precise aetiologies of both MS and ME/CFS a...

    Authors: Vageesh Jain, Amit Arunkumar, Caroline Kingdon, Eliana Lacerda and Luis Nacul

    Citation: BMC Neurology 2017 17:117

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  27. Content type: Research article

    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...

    Authors: Goran Rakocevic, Mark Moster and Mary Kay Floeter

    Citation: BMC Neurology 2017 17:108

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  28. Content type: Case report

    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...

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

    Citation: BMC Neurology 2017 17:96

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  29. Content type: Case report

    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...

    Authors: 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…

    Citation: BMC Neurology 2017 17:93

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  30. Content type: Research article

    The aim of this study was to examine the stability and relative validity (RV) of the Neuromuscular Disease Impact Profile (NMDIP) using criterion-related groups. In a previous study the NMDIP-scales showed goo...

    Authors: Isaäc Bos, Jan B.M. Kuks, Josué Almansa, Hubertus P.H. Kremer and Klaske Wynia

    Citation: BMC Neurology 2017 17:87

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  31. Content type: Case report

    Undifferentiated connective tissue disease (UCTD) is widely considered to be a distinct clinical entity, and now divided into two subgroups: stable UCTD and early UCTD. The most frequent onset symptoms of UCTD...

    Authors: Ying Du, Chuan Li, Dai-di Zhao, Jia-rui Lu, Wei Zhang and Zhu-yi Li

    Citation: BMC Neurology 2017 17:85

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  32. Content type: Research article

    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...

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

    Citation: BMC Neurology 2017 17:82

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  33. Content type: Research article

    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...

    Authors: Lili Wang, Yun Zhang and Maolin He

    Citation: BMC Neurology 2017 17:77

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  34. Content type: Case report

    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 ...

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

    Citation: BMC Neurology 2017 17:64

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  35. Content type: Research article

    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...

    Authors: 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…

    Citation: BMC Neurology 2017 17:39

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  36. Content type: Research article

    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...

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

    Citation: BMC Neurology 2017 17:28

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  37. Content type: Research article

    Accidents or neurodegenerative diseases like amyotrophic lateral sclerosis (ALS) can lead to progressing, extensive, and complete paralysis leaving patients aware but unable to communicate (locked-in state). B...

    Authors: Helena Erlbeck, Ursula Mochty, Andrea Kübler and Ruben G. L. Real

    Citation: BMC Neurology 2017 17:3

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  38. Content type: Case report

    Becker muscular dystrophy (BMD), a genetic disorder of X-linked recessive inheritance, typically presents with gradually progressive muscle weakness. The condition is caused by mutations of Dystrophin gene loc...

    Authors: Jing Miao, Jia-chun Feng, Dan Zhu and Xue-fan Yu

    Citation: BMC Neurology 2016 16:255

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  39. Content type: Research article

    Despite substantial research into the topic and valiant surgical efforts, reconstruction of peripheral nerve injury remains a challenging surgery. This study was conducted to evaluate the effectiveness of axon...

    Authors: Jamshid Mohammadi, Hamdollah Delaviz, Bahram Mohammadi, Hamoun Delaviz and Parastou Rad

    Citation: BMC Neurology 2016 16:237

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  40. Content type: Research article

    Fatigue is reported as one of the most disabling symptoms and is common among persons living with late effects of polio. Although fatigue has been studied in the context of people living with late effects of p...

    Authors: I. Santos Tavares Silva, K. S. Sunnerhagen, C. Willén and I. Ottenvall Hammar

    Citation: BMC Neurology 2016 16:230

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  41. Content type: Case report

    Myasthenic symptoms can be present in patients with amyotrophic lateral sclerosis (ALS). These symptoms have been considered to be caused by the degeneration of distal motor neurons and the neuromuscular junct...

    Authors: Hisashi Takahashi, Yu-ichi Noto, Naoki Makita, Yukie Kushimura-Okada, Ryotaro Ishii, Akihiro Tanaka, Tomoyuki Ohara, Shunya Nakane, Osamu Higuchi, Masanori Nakagawa and Toshiki Mizuno

    Citation: BMC Neurology 2016 16:229

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  42. Content type: Research article

    The burden of neurological diseases is increasing in developing countries. However, there is a prominent scarcity of literature on the incidence of neurological diseases in sub-Saharan Africa. This study was t...

    Authors: Mark Kaddumukasa, Leviticus Mugenyi, Martin N. Kaddumukasa, Edward Ddumba, Michael Devereaux, Anthony Furlan, Martha Sajatovic and Elly Katabira

    Citation: BMC Neurology 2016 16:227

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  43. Content type: Research article

    To examine labour market participation and long-term sick leave following a diagnosis with myasthenia gravis (MG) compared with the general Danish population and for specific subgroups of MG patients.

    Authors: Asger Frost, Marie Louise Svendsen, Jes Rahbek, Christina Malmose Stapelfeldt, Claus Vinther Nielsen and Thomas Lund

    Citation: BMC Neurology 2016 16:224

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  44. Content type: Research article

    We have previously reported using two-step cluster analysis to classify myasthenia gravis (MG) patients into the following five subtypes: ocular MG; thymoma-associated MG; MG with thymic hyperplasia; anti-acet...

    Authors: Tetsuya Akaishi, Yasushi Suzuki, Tomihiro Imai, Emiko Tsuda, Naoya Minami, Yuriko Nagane, Akiyuki Uzawa, Naoki Kawaguchi, Masayuki Masuda, Shingo Konno, Hidekazu Suzuki, Hiroyuki Murai, Masashi Aoki and Kimiaki Utsugisawa

    Citation: BMC Neurology 2016 16:225

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