Dystrophies myotoniques – Myotonic dystrophies

57. J Neurol . 2021 Oct 26. doi: 10.1007/s00415-021-10875-1. Online ahead of print.

Nationwide incidence of myotonic dystrophy type 1 and the status of multi-organ involvement Ju-Yeun Lee 1 2 3 , Ha-Neul Jeong^{4 5}

 ¹ Department of Ophthalmology, Myongji Hospital, Hanyang University College of Medicine, Goyang, South Korea.

 ² Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea.

 ³ Integrated Major in Innovative Medical Science, Seoul National University College of Medicine, Seoul, South Korea.

 ⁴ Department of Neurology, Myongji Hospital, Hanyang University College of Medicine, 55, Hwasu-ro 14, Deogyang-gu, Goyang-si, Gyeonggi-do, 10475, Republic of Korea. hkns8679@gmail.com.

 ⁵ Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea.

hkns8679@gmail.com.

 PMID: 34704149

Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-11-1 du 22 octobre au 4 novembre 2021 (October 22 to november 4, 2021)

 DOI: 10.1007/s00415-021-10875-1

Keywords: Arrhythmia; Cardiovascular diseases; Incidence; Myotonic dystrophy type 1.

58. Mol Ther Methods Clin Dev . 2021 Sep 14;23:169-183. eCollection 2021 Dec 10.

miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

Demetris Koutalianos¹, Andrie Koutsoulidou^{1 2}, Chrystalla Mytidou^{1 2}, Andrea C Kakouri 2 3 4 , Anastasis Oulas^{2 3} , Marios Tomazou 2 3 4 , Tassos C Kyriakides⁵, Marianna Prokopi^{6 7}, Konstantinos Kapnisis⁶, Nikoletta Nikolenko⁸ , Chris Turner⁸, Anna Lusakowska⁹, Katarzyna Janiszewska¹⁰, George K Papadimas¹¹, Constantinos

Papadopoulos¹¹, Evangelia Kararizou¹¹, George M Spyrou^{2 3}, Geneviève Gourdon¹², Eleni Zamba Papanicolaou^{2 13} , Grainne Gorman¹⁴, Andreas Anayiotos⁶, Hanns Lochmüller^{15 16}, Leonidas A Phylactou^{1 2}

 ¹ Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, Cyprus, PO Box 23462, 1683 Nicosia, Cyprus.

 ² The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, Cyprus, PO Box 23462, 1683 Nicosia, Cyprus.

 ³ Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, Cyprus, PO Box 23462, 1683 Nicosia, Cyprus.

 ⁴ Department of Neurogenetics, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, Cyprus, PO Box 23462, 1683 Nicosia, Cyprus.

 ⁵ Yale Center for Analytical Sciences, Yale School of Public Health, 300 George Street, Suite 555, New Haven, CT 06520, USA.

 ⁶ Department of Mechanical Engineering and Materials Science and Engineering, Cyprus University of Technology, 45 Kitiou Kyprianou Str., 3041 Limassol, Cyprus.

 ⁷ Theramir Ltd, 13 Georgiou Karaiskaki Str., 3032 Limassol, Cyprus.

 ⁸ National Hospital for Neurology and Neurosurgery, Queen Square, University College London Hospitals NHS Foundation Trust, London, UK.

 ⁹ Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

 ¹⁰ Department of Neurology, Central Hospital of Medical University of Warsaw, Warsaw, Poland.

 ¹¹ Department of Neurology, Eginitio Hospital, Medical School of Athens, 74 Vasilissis Sofias, 11528 Athens, Greece.

 ¹² Inserm, Sorbonne University, Institute of Myology, Center of Research in Myology, Paris, France.

 ¹³ Neurology Clinic D, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, Cyprus, PO Box 23462, 1683 Nicosia, Cyprus.

 ¹⁴ Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, University of Newcastle, Newcastle, UK.

 ¹⁵ Department of Neuropediatrics and Muscle Disorders, Medical Centre-University of Freiburg, Faculty of Medicine, Freiburg, Germany.

 ¹⁶ Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.

 PMID: 34703840

 PMCID: PMC8517008

 DOI: 10.1016/j.omtm.2021.09.007

Keywords: DMSXL mice; RNA-seq; biomarkers; heart; miRNAs; muscle; myomiRs; myotonic dystrophy; serum; small extracellular vesicles.

Laminopathies – Laminopathies

59. Int J Mol Sci . 2021 Oct 18;22(20):11226. doi: 10.3390/ijms222011226.

In Silico and In Vivo Analysis of Amino Acid Substitutions That Cause Laminopathies

Benjamin E Hinz¹, Sydney G Walker¹, Austin Xiong¹, Rose A Gogal², Michael J Schnieders^{1 2}, Lori L Wallrath¹

 ¹ Department of Biochemistry, University of Iowa, Iowa City, IA 52242, USA.

 ² Department of Biomedical Engineering, University of Iowa, Iowa City, IA 52242, USA.

 PMID: 34681887

 PMCID: PMC8536974

 DOI: 10.3390/ijms222011226

Keywords: Emery–Dreifuss muscular dystrophy; congenital muscular dystrophy; intermediate filaments; laminopathy;

lamins; nuclear envelope.

Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-11-1 du 22 octobre au 4 novembre 2021 (October 22 to november 4, 2021)

Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease

60. Sci Rep . 2021 Nov 2;11(1):21535. doi: 10.1038/s41598-021-00819-0.

Intraepineurial fat quantification and cross-sectional area analysis of the sciatic nerve using MRI in Charcot-Marie-Tooth disease type 1A patients

Hyun Su Kim^{# 1}, Ji Hyun Lee^{# 1}, Young Cheol Yoon¹, Min Jae Cha², Soo Hyun Nam³, Hye Mi Kwon³, Seonwoo Kim⁴, Hojeong Won⁴, Byung-Ok Choi^{5 6}

 ¹ Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.

 ² Department of Radiology, Chung-Ang University Hospital, Chung-Ang University College of Medicine, Seoul, South Korea.

 ³ Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea.

 ⁴ Statistics and Data Center, Research Institute for Future Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.

 ⁵ Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea. bochoi@skku.edu.

 ⁶ Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, South Korea.

bochoi@skku.edu.

 PMID: 34728674

 PMCID: PMC8563983

 DOI: 10.1038/s41598-021-00819-0

61. Front Neurol . 2021 Oct 13;12:757518. doi: 10.3389/fneur.2021.757518. eCollection 2021.

The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort Yan Ma 1 2 3 , Aping Sun 1 2 3 , Yingshuang Zhang 1 2 3 , Dongsheng Fan 1 2 3 , Xiaoxuan Liu 1 2 3

 ¹ Department of Neurology, Peking University Third Hospital, Beijing, China.

 ² Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing, China.

 ³ Key Laboratory for Neuroscience, Ministry of Education/National Health Commission, Peking University, Beijing, China.

 PMID: 34721278

 PMCID: PMC8548668

 DOI: 10.3389/fneur.2021.757518

Keywords: Charcot–Marie–Tooth disease type 2A; de novo variants; genotype; mitofusin2; phenotype.

62. Hum Mol Genet . 2021 Oct 27;ddab311. doi: 10.1093/hmg/ddab311. Online ahead of print.

Distinct roles for the Charcot-Marie-tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination

Anna E Mammel^{1 2}, Katherine C Delgado¹, Andrea L Chin¹, Alec F Condon^{1 3}, Jo Q Hill⁴, Sue A Aicher⁴, Yingming Wang⁵, Lev M Fedorov⁵, Fred L Robinson^{1 6}

 ¹ The Jungers Center for Neurosciences Research, Department of Neurology, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239, USA.

 ² Cell, Developmental & Cancer Biology Graduate Program, Oregon Health & Science University.

 ³ Neuroscience Graduate Program, Oregon Health & Science University.

 ⁴ Department of Physiology and Pharmacology, Oregon Health & Science University.

 ⁵ OHSU Transgenic Mouse Models Shared Resource, Knight Cancer Institute, Oregon Health & Science University.

 ⁶ Vollum Institute, Oregon Health & Science University.

 PMID: 34718573

 DOI: 10.1093/hmg/ddab311

Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-11-1 du 22 octobre au 4 novembre 2021 (October 22 to november 4, 2021) 63. Front Neurol . 2021 Oct 12;12:694966. doi: 10.3389/fneur.2021.694966. eCollection 2021.

Charcot-Marie-Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy Yuqing Guan¹, Yanxia Zhang², Xin-Ming Shen³, Liang Zhou¹, Xuan Shang², Yu Peng¹, Yafang Hu¹, Wei Li¹

 ¹ Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, China.

 ² Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.

 ³ Department of Neurology, Mayo Clinic, Rochester, MN, United States.

 PMID: 34712195

 PMCID: PMC8546186

 DOI: 10.3389/fneur.2021.694966

Keywords: Charcot-Marie-Tooth disease; HADHB; mitochondrial trifunctional protein deficiency; peripheral neuropathy;

rhabdomyolysis.

64. Neurotherapeutics . 2021 Oct 27. doi: 10.1007/s13311-021-01141-3. Online ahead of print.

New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies

Natalie Winter¹, Debora Vittore¹, Burkhard Gess², Jörg B Schulz^{2 3}, Alexander Grimm⁴, Maike F Dohrn^{2 5}

 ¹ Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

 ² Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany.

 ³ JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Jülich Aachen Research Alliance (JARA), FZ Jülich and RWTH University, Jülich, Germany.

 ⁴ Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany. alexander.grimm@med.uni-tuebingen.de.

 ⁵ Department of Human Genetics and John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation, University of Miami, Miller School of Medicine, Miami, FL, USA.

 PMID: 34708324

 DOI: 10.1007/s13311-021-01141-3

Keywords: Charcot-Marie-Tooth disease; Entrapment; Hereditary transthyretin-amyloidosis; High-resolution nerve ultrasound; Muscle ultrasound; Ultrasound pattern sum score.

65. Dis Model Mech . 2021 Oct 1;14(10):dmm049123. doi: 10.1242/dmm.049123. Epub 2021 Oct 25.

Morc2a p.S87L mutant mice develop peripheral and central neuropathies associated with neuronal DNA damage and apoptosis

Geon Seong Lee¹, Geon Kwak^{2 3}, Ji Hyun Bae¹, Jeong Pil Han¹, Soo Hyun Nam², Jeong Hyeon Lee¹, Sumin Song¹, Gap-Don Kim¹, Tae Sub Park¹, Yang Kyu Choi⁴, Byung-Ok Choi 2 3 5 , Su Cheong Yeom^{1 6}

 ¹ Graduate School of International Agricultural Technology and Institute of Green Bio Science and Technology, Seoul National University, 1447 Pyeongchang-Ro, Daewha, Pyeongchang, Kangwon 25354, South Korea.

 ² Department of Neurology, Sungkyunkwan University School of Medicine, 81 Irwonr-ro, Gangnam, Seoul 06351, South Korea.

 ³ Department of Health Science and Technology, SAIHST, Sungkyunkwan University School of Medicine, 81 Irwonr-ro, Gangnam, Seoul 06351, South Korea.

 ⁴ Department of Laboratory Animal Medicine, College of Veterinary Medicine, Konkuk University, 120 Nueungdong-ro, Gwangjin, Seoul 05029, South Korea.

 ⁵ Stem Cell and Regenerative Medicine Institute, Samgsung Medical Center, Seoul 06351, South Korea.

 ⁶ WCU Biomodulation Major, Department of Agricultural Biotechnology, Seoul National University, 1 Gwanak-ro, Gwanank, Seoul 08826, South Korea.

 PMID: 34695197

 PMCID: PMC8560500

 DOI: 10.1242/dmm.049123

Keywords: Morc2a; CMT2Z; DIGFAN; Neuronal apoptosis; S87L.

Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-11-1 du 22 octobre au 4 novembre 2021 (October 22 to november 4, 2021) 66. J Peripher Nerv Syst . 2021 Oct 25. doi: 10.1111/jns.12473. Online ahead of print.

HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease

Zoi Kontogeorgiou¹, Charalampos Voudommatis¹, Chrisoula Kartanou¹, Dionysis Pandis², Marianthi Breza¹, Thomas Zambelis², Leonidas Stefanis³, Marios Panas¹, Georgios Koutsis¹, Georgia Karadima¹

 ¹ Neurogenetics Unit, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.

 ² Clinical Neurophysiology Unit, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.

 ³ 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.

 PMID: 34694653

 DOI: 10.1111/jns.12473

Keywords: ARAN-NM; CMT; HINT1; dHMN; neuromyotonia.

Review

67. Genes (Basel) . 2021 Sep 27;12(10):1519. doi: 10.3390/genes12101519.

Drosophila Models for Charcot-Marie-Tooth Neuropathy Related to Aminoacyl-tRNA Synthetases Laura Morant¹, Maria-Luise Erfurth¹, Albena Jordanova^{1 2}

 ¹ Molecular Neurogenomics Group, VIB-UAntwerp Center for Molecular Neurology, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, University of Antwerp, 2610 Antwerpen, Belgium.

 ² Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Faculty of Medicine, Medical University-Sofia, 1431 Sofia, Bulgaria.

 PMID: 34680913

 PMCID: PMC8536177

 DOI: 10.3390/genes12101519

Keywords: Charcot–Marie–Tooth neuropathy; Drosophila melanogaster; aminoacyl-tRNA synthetases; disease-modeling.

68. Biochem Biophys Res Commun . 2021 Dec 10;582:8-15. doi: 10.1016/j.bbrc.2021.10.029. Epub 2021 Oct 16.

GJB1 mutations c.212T>G and c.311A>C induce apoptosis and inwardly rectifying potassium current changes in X-linked Charcot-Marie-Tooth type 1

Haokun Guo¹, Yan Liu¹, Juan Gu¹, Jing Luo¹, Yuanlin Ma², Fei Xiao³

 ¹ Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Neurology, Chongqing, 400016, China.

 ² Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Neurology, Chongqing, 400016, China. Electronic address: 842206269@qq.com.

 ³ Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Neurology, Chongqing, 400016, China. Electronic address: feixiao81@126.com.

 PMID: 34678594

 DOI: 10.1016/j.bbrc.2021.10.029

Keywords: Connexin 32; Gap junction beta 1 gene; Inwardly rectifying potassium; X-linked charcot-marie-tooth type 1.

69. Neurology . 2021 Oct 21;10.1212/WNL.0000000000013008. Online ahead of print.

GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies Yi-Chu Liao 1 2 3 , Fu-Pang Chang^{4 5}, Han-Wei Huang⁶, Ting-Bing Chen⁷, Ying-Tsen Chou¹, Shao-Lun Hsu¹ , Kangyang Jih^{1 2}, Yi-Hong Liu¹, Cheng-Tsung Hsiao^{1 2}, Hiromi Fukukda^{8 9}, Takeshi Mizuguchi⁸, Kon-Ping Kp Lin^{1 2}, Chou-Ching K Lin⁶, Naomichi Matsumoto⁸, Marina Kennerson 10 11 12 , Yi-Chung Lee 13 2 3

 ¹ Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.

 ² Department of Neurology, National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan.

 ³ Brain Research Center,National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan.

 ⁴ Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.

 ⁵ Institute of Clinical Medicine, National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan.

 ⁶ Department of Neurology, School of Medicine, National Cheng Kung University Hospital, Tainan, Taiwan.

 ⁷ Department of Neurology, Neurological Institute, Taichung Veterans General Hospital, Taichung, Taiwan.

 ⁸ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-11-1 du 22 octobre au 4 novembre 2021 (October 22 to november 4, 2021)

 ⁹ Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

 ¹⁰ Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia.

 ¹¹ Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

 ¹² Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia.

 ¹³ Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan ycli@vghtpe.gov.tw.

 PMID: 34675106

 DOI: 10.1212/WNL.0000000000013008

Dans le document Sommaire par maladies / diseases Bibliography of neuromuscular disorders Bibliographie sur les maladies neuromusculaires (Page 21-26)