67. J Neuromuscul Dis. 2021 Dec 5. doi: 10.3233/JND-210716. Online ahead of print.
[CASE REPORT] Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: a case report
Danique Beijer 1, Kiran Polavarapu 2, Veeramani Preethish-Kumar 2, Mainak Bardhan 3, Maike F Dohrn 1, Adriana Rebelo 1, Stephan Züchner 1, Atchayaram Nalini 3
• 1Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.
• 2Children's Hospital of Eastern Ontario ResearchInstitute; Division of Neurology, Department of Medicine, The Ottawa Hospital; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada.
• 3Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
• PMID: 34897098
• DOI: 10.3233/JND-210716
Keywords: Charcot-Marie-Tooth disease; genetic diseases; high-throughput nucleotide sequencing; inborn;
neurodegenerative diseases.
68. Foot Ankle Int. 2021 Dec 15;10711007211055460. doi: 10.1177/10711007211055460. Online ahead of print.
Abnormal Bone Morphology in Charcot-Marie-Tooth Disease
Max P Michalski 1, Tonya W An 1, Edward T Haupt 1, Brandon Yeshoua 2, Jari Salo 3, Glenn Pfeffer 1
• 1Orthopaedic Surgery, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
• 2Icahn School of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
• 3Mehiläinen Hospital, Helsinki, Finland.
• PMID: 34907795
• DOI: 10.1177/10711007211055460
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021) Keywords: Bone morphology; Cavovarus; Charcot-Marie-Tooth; Hindfoot.
69. Can J Anaesth. 2021 Dec 13. doi: 10.1007/s12630-021-02168-y. Online ahead of print.
Rocuronium-induced respiratory paralysis refractory to sugammadex in Charcot-Marie-Tooth disease Sakiko Hiramatsu 1, Katsuyuki Moriwaki 2, Miwako Nakao 1, Yasuo M Tsutsumi 3 4
• 1Department of Anesthesiology, Hiroshima Hiramatsu Hospital, Hiroshima, Japan.
• 2Department of Anesthesiology, Hiroshima University Hospital, Hiroshima, Japan. kmoriwaki1953@icloud.com.
• 3Department of Anesthesiology, Hiroshima University Hospital, Hiroshima, Japan.
• 4Department of Anesthesiology and Critical Care, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
• PMID: 34902106
• DOI: 10.1007/s12630-021-02168-y
Keywords: Charcot-Marie-Tooth disease; nondepolarizing neuromuscular agent; respiratory paralysis; rocuronium;
sugammadex.
70. Curr Issues Mol Biol. 2021 Nov 13;43(3):2011-2021. doi: 10.3390/cimb43030138.
Farnesol Ameliorates Demyelinating Phenotype in a Cellular and Animal Model of Charcot-Marie-Tooth Disease Type 1A
Na-Young Park 1, Geon Kwak 2, Hyun-Myung Doo 2, Hye-Jin Kim 2, So-Young Jang 3, Yun-Il Lee 4, Byung-Ok Choi 2 5, Young-Bin Hong 1 3
• 1Department of Translational Biomedical Sciences, Graduate School of Dong-A University, Busan 49201, Korea.
• 2Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul 06351, Korea.
• 3Departments of Biochemistry, College of Medicine, Dong-A University, Busan 49201, Korea.
• 4Well Aging Research Center, Division of Biotechnology, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu 42988, Korea.
• 5Samsung Medical Center, Department of Neurology, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.
• PMID: 34889893
• DOI: 10.3390/cimb43030138
Keywords: Charcot-Marie-Tooth disease (CMT); farnesol; myelination.
71. Foot Ankle Int. 2021 Dec 10;10711007211060038. doi: 10.1177/10711007211060038. Online ahead of print.
Safety and Efficacy of Postoperative Indwelling Popliteal Nerve Catheters for Outpatient Charcot-Marie-Tooth Surgery
Tonya An 1, Elliot Schwartz 1, Michael Kissen 1, Gabriel Pollock 1, Glenn Pfeffer 1
• 1Cedars-Sinai Medical Center, Los Angeles, CA, USA.
• PMID: 34889125
• DOI: 10.1177/10711007211060038
Keywords: CMT; Charcot-Marie-Tooth; nerve block; nerve catheter; neurologic deficit; perioperative pain protocol; regional anesthesia.
72. Med Sci (Paris). 2021 Nov;37 Hors série n° 1:30-31. doi: 10.1051/medsci/2021188. Epub 2021 Dec 8.
[SORD-related hereditary neuropathies]
[Article in French]
Gorka Fernández-Eulate 1, Arnaud Bruneel 2, Tanya Stojkovic 3
• 1Centre de Référence des Maladies Neuromusculaires Nord-Est/Île-de-France, Institut de Myologie, GHU Pitié-Salpêtrière, HP, Paris, France - Centre de Référence des Maladies Lysosomales, GHU Pitié-Pitié-Salpêtrière, AP-HP, Paris, France.
• 2Service de Biochimie Métabolique et Cellulaire, CHU Bichat, AP-HP, Paris, France.
• 3Centre de Référence des Maladies Neuromusculaires Nord-Est/Île-de-France, Institut de Myologie, GHU Pitié-Salpêtrière, AP-HP, Paris, France.
• PMID: 34878391
• DOI: 10.1051/medsci/2021188
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021) Article in MYOBASE : https://www.myobase.org/index.php?lvl=notice_display&id=73897
73. J Anat. 2021 Dec 7. doi: 10.1111/joa.13605. Online ahead of print.
Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1
Timothy J Hines 1, Abigail L D Tadenev 1, Museer A Lone 2, Courtney L Hatton 1, Inseyah Bagasrawala 1, Morgane G Stum 1, Kathy E Miers 1, Thorsten Hornemann 2, Robert W Burgess 1
• 1The Jackson Laboratory, Bar Harbor, Maine, USA.
• 2Institute for Clinical Chemistry, University of Zurich, Zurich, Switzerland.
• PMID: 34875719
• DOI: 10.1111/joa.13605
Keywords: Charcot-Marie-Tooth; HSN1; SPTLC2; YARS; axon degeneration; demyelination; inherited peripheral neuropathy; sphingolipid synthesis; tRNA synthetase.
74. IUBMB Life. 2021 Dec 7. doi: 10.1002/iub.2583. Online ahead of print.
Drosophila as a model to study autophagy in neurodegenerative diseases and digestive tract Fei-Yang Tzou 1, Jung-Kun Wen 2, Jui-Yu Yeh 1, Shu-Yi Huang 3, Guang-Chao Chen 2, Chih-Chiang Chan 1
• 1Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan.
• 2Institute of Biological Chemistry, Academia Sinica, Taipei, Taiwan.
• 3Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan.
• PMID: 34874101
• DOI: 10.1002/iub.2583
Keywords: autophagy; digestive tract; drosophila; neurodegenerative diseases.
75. J Cell Sci. 2021 Dec 6;jcs.257808. doi: 10.1242/jcs.257808. Online ahead of print.
MITOL-mediated DRP1 ubiquitylation and degradation promotes mitochondrial hyperfusion in CMT2A-linked MFN2 mutant
Rajdeep Das 1 2, Izaz Monir Kamal 3 4, Subhrangshu Das 3, Saikat Chakrabarti 3 4, Oishee Chakrabarti 1 2
• 1Biophysics & Structural Genomics Division, Saha Institute of Nuclear Physics, 1/AF Bidhannagar, Kolkata - 700064, India.
• 2Homi Bhabha National Institute, India.
• 3Structural Biology and Bioinformatics Division, CSIR-Indian Institute of Chemical Biology, CN 6, Sector V, Salt Lake, Kolkata - 700091, India.
• 4Academy of Scientific and Innovative Research (AcSIR), Gaziabad, India.
• PMID: 34870686
• DOI: 10.1242/jcs.257808
Keywords: CMT2A-linked MFN2 mutant; DRP1; MITOL; Mitochondrial hyperfusion; Ubiquitylation.
Case Reports
76. Front Neurol. 2021 Nov 16;12:726437. doi: 10.3389/fneur.2021.726437. eCollection 2021.
Facial Paresthesia, a Rare Manifestation of Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report
Lisa De Kock 1, Fréderic Van der Cruyssen 2, Leonore Gruijthuijsen 1, Constantinus Politis 2
• 1Faculty of Medicine, University Leuven and Maxillofacial Surgery Department, University Hospitals Leuven, Leuven, Belgium.
• 2OMFS IMPATH Research Group, Department of Imaging and Pathology, Faculty of Medicine, University of Leuven and Oral and Maxillofacial Surgery, University Hospitals Leuven, Leuven, Belgium.
• PMID: 34867715
• PMCID: PMC8635109
• DOI: 10.3389/fneur.2021.726437
Keywords: PMP22 deletion; case report; hereditary neuropathy with liability to pressure palsy; paresthesia; trigeminal neuropathy.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021)