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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. Necrotizing myopathy (NM) is defined by the dominant pathological feature of necrosis of muscle fibers without substantial lymphocytic inflammatory infiltration. Anti-signal recognition particle (SRP)-antibody...

    Authors: Arika Hara, Ryota Amano, Hiroaki Yokote, Masahide Ijima, Satoshi Zeniya, Toshiki Uchihara, Sawako Yada, Mayumi Masumura, Hidenobu Takei, Ichizo Nishino and Shuta Toru

    Citation: BMC Neurology 2020 20:29

    Content type: Case report

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  2. Postural instability presents a common and disabling consequence of chemotherapy-induced peripheral neuropathy (CIPN). However, knowledge about postural behavior of CIPN patients is sparse. With this pilot stu...

    Authors: Sarah Kneis, Anja Wehrle, Daniela Dalin, Isabella Katharina Wiesmeier, Johann Lambeck, Albert Gollhofer, Hartmut Bertz and Christoph Maurer

    Citation: BMC Neurology 2020 20:23

    Content type: Research article

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  3. Persons with spinal cord injury/dysfunction (SCI/D) often take multiple medications to treat their secondary complications and chronic conditions (multimorbidity). Multiple healthcare and service providers are...

    Authors: Sara J. T. Guilcher, Amanda C. Everall, Tejal Patel, Tanya L. Packer, Sander L. Hitzig, Stephanie R. Cimino and Aisha K. Lofters

    Citation: BMC Neurology 2020 20:20

    Content type: Research article

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  5. Myasthenia gravis is a chronic, autoimmune, neuromuscular junction disorder characterized by skeletal muscle weakness. Current therapies for myasthenia gravis are associated with significant side effects. The ...

    Authors: Elizabeth Dansie Bacci, Karin S. Coyne, Jiat-Ling Poon, Linda Harris and Audra N. Boscoe

    Citation: BMC Neurology 2019 19:335

    Content type: Research article

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  6. The narcolepsy severity scale (NSS) was developed to measure the severity and consequences of symptoms in patients with narcolepsy. The scale has been validated in France, though no other studies have further ...

    Authors: Hui Ouyang, Fang Han, Qiwen Zheng and Jun Zhang

    Citation: BMC Neurology 2019 19:334

    Content type: Research article

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  7. Multiple acyl-CoA dehydrogenase deficiency (MADD) is a riboflavin-responsive lipid-storage myopathy caused by mutations in the EFTA, EFTB or ETFDH genes. We report a Chinese family of Southern Min origin with ...

    Authors: Wei Chen, Youqiao Zhang, Yifeng Ni, Shaoyu Cai, Xin Zheng, Frank L. Mastaglia and Jingshan Wu

    Citation: BMC Neurology 2019 19:330

    Content type: Case report

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  9. Little is known about the clinical phenotype of amyotrophic lateral sclerosis (ALS) in non-Caucasian populations. Here, we aimed to describe the clinical characteristics, prognostic factors and survival of Mex...

    Authors: Claudia Marisol Sánchez-Martínez, José Alberto Choreño-Parra, Lilia Nuñez-Orozco, Noel Placencia-Álvarez, Laura Marcela Alvis-Castaño and Parménides Guadarrama-Ortiz

    Citation: BMC Neurology 2019 19:261

    Content type: Research article

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  10. Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt.

    Authors: Cláudia R. C. Galvão, Priscilla M. A. Cavalcante, Ricardo Olinda, Zodja Graciani, Mayana Zatz, Fernando Kok, Silvana Santos and Selma Lancman

    Citation: BMC Neurology 2019 19:256

    Content type: Research article

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  11. Palbociclib is a selective well-tolerated antineoplastic drug used in the treatment of advanced HER2-negative, estrogen-receptor positive breast cancer that has shown significant improvement in progression-fre...

    Authors: Vardan Nersesjan, Klaus Hansen, Thomas Krag, Morten Duno and Tina D. Jeppesen

    Citation: BMC Neurology 2019 19:247

    Content type: Case report

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  12. Nocardiosis is a rare and life-threatening opportunistic infection in immunocompromised patients. Myasthenia gravis (MG) patients are potentially at risk of nocardia infection because of the use of immunosuppr...

    Authors: Shuhui Wang, Bin Jiang, Yao Li, Yanchang Shang, Zhengshan Liu and Yongbo Zhang

    Citation: BMC Neurology 2019 19:243

    Content type: Case report

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  13. Amyotrophic lateral sclerosis (ALS) is a fatal degenerative disease of a rapid course. In 25% of ALS sufferers, speech disorders occur as prodromal symptoms of the disease. Impaired communication affects physi...

    Authors: Wioletta Pawlukowska, Bartłomiej Baumert, Monika Gołąb-Janowska, Agnieszka Meller, Karolina Machowska-Sempruch, Agnieszka Wełnicka, Edyta Paczkowska, Iwona Rotter, Bogusław Machaliński and Przemysław Nowacki

    Citation: BMC Neurology 2019 19:241

    Content type: Research article

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  14. Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly-inherited progressive muscular dystrophy caused by de-repression of the DUX4 gene, which causes disease by a toxic-gain-of-function. As molecularly ta...

    Authors: Samantha LoRusso, Nicholas E. Johnson, Michael P. McDermott, Katy Eichinger, Russell J. Butterfield, Elena Carraro, Kiley Higgs, Leann Lewis, Karlien Mul, Sabrina Sacconi, Valeria A. Sansone, Perry Shieh, Baziel van Engelen, Kathryn Wagner, Leo Wang, Jeffrey M. Statland…

    Citation: BMC Neurology 2019 19:224

    Content type: Study protocol

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  15. Treatment of spasticity poses a major challenge in amyotrophic lateral sclerosis (ALS) patient management. Delta-9-tetrahydrocannabinol (THC):cannabidiol (CBD) oromucosal spray (THC:CBD), approved for the trea...

    Authors: Thomas Meyer, Andreas Funke, Christoph Münch, Dagmar Kettemann, André Maier, Bertram Walter, Annett Thomas and Susanne Spittel

    Citation: BMC Neurology 2019 19:222

    Content type: Research article

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  17. Myofibrillar myopathies (MFMs) are a genetically heterogeneous group of muscle disorders. Mutations in the filamin C gene (FLNC) have previously been identified in patients with MFM. The phenotypes of FLNC-relate...

    Authors: Juanjuan Chen, Jun Wu, Chunxi Han, Yao Li, Yuzu Guo and Xiaoxin Tong

    Citation: BMC Neurology 2019 19:198

    Content type: Case report

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  18. Pembrolizumab is an immune-checkpoints inhibitor that enhances the immune response against cancer cells and therefore is useful for the treatment of several carcinomas. However, pembrolizumab sometimes perturb...

    Authors: Hikaru Kamo, Taku Hatano, Kazuaki Kanai, Nozomi Aoki, Daiki Kamiyama, Kazumasa Yokoyama, Masashi Takanashi, Yuri Yamashita, Yasushi Shimo and Nobutaka Hattori

    Citation: BMC Neurology 2019 19:184

    Content type: Case report

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  19. Myasthenia gravis is the most common disease affecting the neuromuscular junction. The most common etiology among patients with juvenile myasthenia gravis is the production of antibodies against the acetylchol...

    Authors: Cheng-Che Chou, I-Chen Su, I-Jun Chou, Jainn-Jim Lin, Shih-Yun Lan, Yi-Shan Wang, Shu-Sing Kong, Yun-Ju Chen, Meng-Ying Hsieh, Po-Cheng Hung, Huei-Shyong Wang, Min-Liang Chou and Kuang-Lin Lin

    Citation: BMC Neurology 2019 19:170

    Content type: Research article

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  20. The coexistence of distinct neurodegenerative diseases in single cases has recently attracted greater attention. The phenotypic co-occurrence of progressive supranuclear palsy (PSP) and amyotrophic lateral scl...

    Authors: Koji Fujita, Tomoyasu Matsubara, Ryosuke Miyamoto, Hiroyuki Sumikura, Toshiaki Takeuchi, Keiko Maruyama Saladini, Toshitaka Kawarai, Hiroyuki Nodera, Fukashi Udaka, Kodai Kume, Hiroyuki Morino, Hideshi Kawakami, Masato Hasegawa, Ryuji Kaji, Shigeo Murayama and Yuishin Izumi

    Citation: BMC Neurology 2019 19:168

    Content type: Case report

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  21. Familial amyloid polyneuropathy (FAP) or ATTRv (amyloid TTR variant) amyloidosis is a fatal hereditary disease characterized by the deposition of amyloid fibrils composed of transthyretin (TTR). The current di...

    Authors: Estefania P. Azevedo, Anderson B. Guimaraes-Costa, Christianne Bandeira-Melo, Leila Chimelli, Marcia Waddington-Cruz, Elvira M. Saraiva, Fernando L. Palhano and Debora Foguel

    Citation: BMC Neurology 2019 19:146

    Content type: Research article

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  22. Fulminant Guillain-Barré syndrome (GBS) is characterized clinically by rapid progression of severe symptoms, such as the absence of brainstem reflexes, complete tetraplegia and respiratory arrest. The clinical...

    Authors: Yoshitsugu Nakamura, Mikiko Motoki, Takahiko Hirose, Takafumi Hosokawa, Shimon Ishida and Shigeki Arawaka

    Citation: BMC Neurology 2019 19:145

    Content type: Case report

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  23. Myotonic Dystrophy 1 (DM1) causes progressive myopathy of extremity muscles. DM1 may also affect muscles of the trunk. The aim of this study was to investigate fat infiltration and muscle size in trunk muscles...

    Authors: Gro Solbakken, Bård Bjørnarå, Eva Kirkhus, Bac Nguyen, Gunnar Hansen, Jan C. Frich and Kristin Ørstavik

    Citation: BMC Neurology 2019 19:135

    Content type: Research article

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  24. Autoimmune encephalitis (AE) is a newly recognized autoimmune disorders in which the targets are proteins or receptors involved in synaptic transmission and neuronal excitability. α-amino-3-hydroxy-5-methyl-4-...

    Authors: Qingyang Luo, Xianghong Wu and Wen Huang

    Citation: BMC Neurology 2019 19:126

    Content type: Case report

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  25. Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle pathology is usually normal or comprises mild myopathic c...

    Authors: Takanori Hata, Takamura Nagasaka, Kishin Koh, Mai Tsuchiya, Yuta Ichinose, Haitian Nan, Kazumasa Shindo and Yoshihisa Takiyama

    Citation: BMC Neurology 2019 19:125

    Content type: Case report

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  26. Type 2 Diabetes in Mexico has a high prevalence, 16–87% of patients may experience peripheral neuropathy. Early detection can prevent or halt its progression. The performance of Sudoscan in detecting neuropath...

    Authors: Angelica Carbajal-Ramírez, Julián A. Hernández-Domínguez, Mario A. Molina-Ayala, María Magdalena Rojas-Uribe and Adolfo Chávez-Negrete

    Citation: BMC Neurology 2019 19:109

    Content type: Study protocol

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  27. Lumbo-sacral radiculopathy (LSR) is a common musculoskeletal disorder for which patients seek medical care and referrals for advanced imaging. However, accurate diagnosis remains challenging. Neuropathic pain ...

    Authors: Nassib Tawa, Ina Diener, Quinette Louw and Anthea Rhoda

    Citation: BMC Neurology 2019 19:107

    Content type: Research article

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  28. Nutritional status is an important prognostic factor in Amyotrophic Lateral Sclerosis (ALS). We wished to study the safety, tolerability and efficacy of nutritional counseling with or without an mHealth applic...

    Authors: Anne Marie Wills, Jamie Garry, Jane Hubbard, Taylor Mezoian, Christopher T. Breen, Courtney Ortiz-Miller, Paige Nalipinski, Stacey Sullivan, James D. Berry, Merit Cudkowicz, Sabrina Paganoni, James Chan and Eric A. Macklin

    Citation: BMC Neurology 2019 19:104

    Content type: Research article

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  31. Riluzole is the only approved oral drug for amyotrophic lateral sclerosis (ALS). We performed a retrospective study including ALS patients treated with riluzole, focusing on adverse events.

    Authors: Aya Inoue-Shibui, Masaaki Kato, Naoki Suzuki, Junpei Kobayashi, Yoshiki Takai, Rumiko Izumi, Yuuko Kawauchi, Hiroshi Kuroda, Hitoshi Warita and Masashi Aoki

    Citation: BMC Neurology 2019 19:72

    Content type: Research article

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  34. Collagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe respiratory dysfunction and c...

    Authors: Mengxin Bao, Fei Mao, Zhangning Zhao, Gaoting Ma, Guangjun Xu, Wenjuan Xu, Huan Chen and Meijia Zhu

    Citation: BMC Neurology 2019 19:32

    Content type: Case report

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  35. Fatigability has emerged as an important dimension of physical impairment in patients with Spinal Muscular Atrophy (SMA). At present reliable and valid outcome measures for both mildly and severely affected pa...

    Authors: Bart Bartels, Laura E. Habets, Marloes Stam, Renske I. Wadman, Camiel A. Wijngaarde, Marja A. G. C. Schoenmakers, Tim Takken, Erik H.J. Hulzebos, W. Ludo van der Pol and Janke F. de Groot

    Citation: BMC Neurology 2019 19:21

    Content type: Research article

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  36. Stiff Person Syndrome (SPS) is an under-diagnosed disorder that affects mobility and the quality of life of affected patients. The aim of the study is to describe the natural history of SPS, the extent of accu...

    Authors: Goran Rakocevic, Harry Alexopoulos and Marinos C. Dalakas

    Citation: BMC Neurology 2019 19:1

    Content type: Research article

    Published on:

  38. Multiple acyl-CoA dehydrogenase deficiency (MADD) showed great clinical heterogeneity and poses a challenge to diagnosis. Guillain-Barré syndrome (GBS) is an acute-onset autoimmune-mediated peripheral neuropat...

    Authors: Daojun Hong, Yanyan Yu, Yuyao Wang, Yan Xu and Jun Zhang

    Citation: BMC Neurology 2018 18:219

    Content type: Case report

    Published on:

  39. Assessment on the prognosis of amyotrophic lateral sclerosis (ALS) is becoming a focus of research in recent years since there is no effective treatment. The aim of the research is to explore the major factors...

    Authors: Chun-Jiang Yu, Li Wang, Sen-Lin Mao, Ying Zhang, Ling-Ling Song, Ling-Yu Cai and Ye Tao

    Citation: BMC Neurology 2018 18:211

    Content type: Research article

    Published on:

  40. Amyotrophic Lateral Sclerosis (ALS) is a rapid progressive neurodegenerative disease, characterized by a selective loss of motor neurons, brain stem and spinal cord which leads to deterioration of motor abilit...

    Authors: Isabela Lopes Trevizan, Talita Dias Silva, Helen Dawes, Thais Massetti, Tânia Brusque Crocetta, Francis Meire Favero, Acary Souza Bulle Oliveira, Luciano Vieira de Araújo, Ana Carolina Costa Santos, Luiz Carlos de Abreu, Shelly Coe and Carlos Bandeira de Mello Monteiro

    Citation: BMC Neurology 2018 18:209

    Content type: Research article

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  41. We reported a case of an adult that presented Guillain-Barré syndrome (GBS) after bacterial meningitis which was secondary to chronic suppurative otitis media (CSOM). To our knowledge, this is the first case i...

    Authors: Li Ding, Zhongjun Chen, Yan Sun, Haiping Bao, Xiao Wu, Lele Zhong, Pei Zhang, Yongzhong Lin and Ying Liu

    Citation: BMC Neurology 2018 18:208

    Content type: Case report

    Published on:

  43. To assess the feasibility of using automated capture of Electronic Medical Record (EMR) data to build predictive models for amyotrophic lateral sclerosis (ALS) outcomes.

    Authors: Alex G. Karanevich, Luke J. Weisbrod, Omar Jawdat, Richard J. Barohn, Byron J. Gajewski, Jianghua He and Jeffrey M. Statland

    Citation: BMC Neurology 2018 18:205

    Content type: Research article

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  45. 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

    Content type: Case report

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  46. 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

    Content type: Case report

    Published on:

  47. 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

    Content type: Research article

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  48. 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

    Content type: Case report

    Published on:

  49. 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

    Content type: Case report

    Published on:

  50. 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

    Content type: Research article

    Published on:

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