Article
Behavioral Sciences
Jacquelyn L. Knight, Megan S. Barker, Timothy J. Edwards, Joseph M. Barnby, Linda J. Richards, Gail A. Robinson
Summary: This study comprehensively documents the neuropsychological outcomes and neuroanatomical mapping of a family with known DCC mutations and mirror movements, revealing more severe impairments in the son compared to the mother and daughter, who have largely normal neuropsychological abilities.
Article
Endocrinology & Metabolism
Shira London, Elisa De Franco, Ghadir Elias-Assad, Marie Noufi Barhoum, Clari Felszer, Marina Paniakov, Scott A. Weiner, Yardena Tenenbaum-Rakover
Summary: Mutations in the GLIS3 gene can cause a rare syndrome characterized by NDM, congenital hypothyroidism, congenital glaucoma, and cystic kidneys. This study identified a novel homozygous nonsense mutation in GLIS3 leading to NDM in non-identical twins. The importance of early molecular diagnosis for appropriate management of NDM and the need for further investigation into the roles of GLIS3 in diabetes mellitus pathophysiology were highlighted.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Genetics & Heredity
Qingxian Deng, Zhongying Ding, Qinqin Fu, Meifang Lin
Summary: This case report identifies a congenital myopathy caused by a complex heterozygous mutation in the RYR1 gene and analyzes the pathogenicity of the mutation. The study retrospectively analyzed the clinical manifestations, laboratory examinations, imaging findings, muscle pathology, and gene test results of the patient, and discovered a new compound heterozygous variation in the RYR1 gene that expands the RYR1 gene spectrum.
Review
Medicine, General & Internal
Jing Wang, Haitao Zhang, Yu Wang, Lei Liang, Zeyu Yang
Summary: This case report describes a patient with SCN caused by ELANE gene mutation and an infection of Mycobacterium abscess. Conventional treatments did not improve the patient's symptoms, but after a series of interventions, the patient's condition improved. However, the possibility of HSCT should still be considered.
Article
Biochemistry & Molecular Biology
Jing Wu, Silong Chen, Jingjie Xu, Wanyue Xu, Sifan Zheng, Qing Tian, Chenqi Luo, Xiangjun Chen, Xingchao Shentu
Summary: Congenital cataracts account for a significant percentage of childhood blindness worldwide, particularly in developing countries. A G149V point missense mutation in beta B2-crystallin was found to be associated with congenital cataracts in a Chinese family. This study investigated the structural and biophysical effects of the G149V mutation, revealing changes in the protein's structure, stability, and sensitivity to environmental stresses. These findings provide insights into the pathogenesis of the G149V mutant in congenital cataracts.
Article
Clinical Neurology
Andreea Nissenkorn, Keren Yosovich, Zvi Leibovitz, Tamar Gur Hartman, Itay Zelcer, Mohammad Hugirat, Dorit Lev, Tally Lerman-Sagie, Lubov Blumkin
Summary: Congenital mirror movements are involuntary movements that mimic intentional movements on the opposite side, often persisting beyond 7 years of age. These movements are usually idiopathic but can be associated with various brain malformations. This study describes the clinical, genetic, and radiologic features in individuals with congenital mirror movements, and identifies specific genetic mutations in DCC, TUBB3, TUBB, TUBA1A, and POMGNT1 that are linked to abnormal axonal guidance and brain malformations.
JOURNAL OF CHILD NEUROLOGY
(2021)
Article
Medicine, General & Internal
Liping Wang, Weisheng Lin, Xiaohong Li, Lijuan Zhang, Kai Wang, Xiaoli Cui, Shanmei Tang, Guangguang Fang, Yan Tan, Xuelai Wang, Chuan Chen, Chuanchun Yang, Huiru Tang
Summary: This study identified a novel homozygous missense mutation in the GNRHR gene in two affected sisters with IHH. The mutation may impede conformational mobility of the protein, suggesting it as a causative factor for the disease. High-throughput sequencing and experimental verification help determine patient's pathogenic mutation and inheritance, providing guidance for treatment.
Article
Medical Laboratory Technology
Dan Zhou, Hua Xu, Xiaorong Shen, Ruihuan Gu, Ying Chen, Guowu Chen, Pan Li, Huijuan Shi, Xiaoxi Sun, Aijie Xin
Summary: This study reported a novel mutation in the AR gene causing androgen insensitivity syndrome, which resulted in decreased mRNA and protein expression as well as reduced protein stability. In addition, the mutant AR failed to bind to ligand and translocate from cytoplasm to nucleus.
CLINICA CHIMICA ACTA
(2022)
Article
Medicine, General & Internal
Yuxiang Qi, Hairong Li, Ling Yu
Summary: This article reports a case of CADASIL with a heterozygous mutation in the NOTCH3 gene. Despite not exhibiting the typical clinical findings of CADASIL, the patient's cerebral magnetic resonance imaging was consistent with the characteristic findings of CADASIL. This case reminds us that mutations caused by different mutation sites present different clinical symptoms.
Article
Pediatrics
Xiaona Luo, Chunmei Wang, Longlong Lin, Fang Yuan, Simei Wang, Yilin Wang, Anqi Wang, Chao Wang, Shengnan Wu, Xiaoping Lan, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Yuanfeng Zhang, Jiaming Xi, Jie Zhang, Xiaomin Sun, Jingbin Yan, Fanyi Zeng, Yucai Chen
Summary: Mutations in the COLQ gene can cause congenital myasthenia syndrome, characterized by muscle weakness, respiratory failure, restricted eye movements, drooping eyelids, and difficulty swallowing. We identified COLQ gene variants in two unrelated children associated with CMS.
FRONTIERS IN PEDIATRICS
(2021)
Article
Medicine, General & Internal
Xinwei Hou, Kairu Zhang, Qian Wu, Mingyuan Zhang, Li Li, Hongwei Li
Summary: Genetic testing is of great value in the study of inherited antithrombin deficiency.
Article
Multidisciplinary Sciences
Mahtab Tavasoli, Sarah Lahire, Stanislav Sokolenko, Robyn Novorolsky, Sarah Anne Reid, Abir Lefsay, Meredith O. C. Otley, Kitipong Uaesoontrachoon, Joyce Rowsell, Sadish Srinivassane, Molly Praest, Alexandra MacKinnon, Melissa Stella Mammoliti, Ashley Alyssa Maloney, Marina Moraca, J. Pedro Fernandez-Murray, Meagan McKenna, Christopher J. Sinal, Kanneboyina Nagaraju, George S. Robertson, Eric P. Hoffman, Christopher R. McMaster
Summary: Mutations in the CHKB gene cause muscular dystrophy. Changes in lipid metabolism are associated with decreased PPAR signaling in mouse models of the disease. Treatment with PPAR agonists can rescue expression of injury markers in myocytes in vitro.
NATURE COMMUNICATIONS
(2022)
Article
Medical Laboratory Technology
Jiahui Liu, Qiaoyu Zhang, Qi Wang, Siyu Luan, Xiang Dong, Hua Cao, Dingbo Tao, Huijie Dong, Xiaofei Ji
Summary: A heterozygous deletion-insertion mutation in exon 4 of the NOTCH3 gene was identified in a CADASIL patient through whole-exome sequencing. This discovery provides a significant theoretical basis for specific gene-based diagnosis and treatment of CADASIL.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Genetics & Heredity
Yahui Qiao, Binjie Liu, Ruiqi Bai, Jingwen Cai, Qian Peng
Summary: White sponge nevus (WSN) is a rare autosomal dominant disease often caused by mutations in the K4 and K13 genes. This study reports the clinical data of four WSN patients from the same family, and identifies for the first time the occurrence of WSN in a pair of monozygotic twins with very similar clinical presentations.
Article
Neurosciences
Shuai Shao, Guanzhong Shi, Fang-Fang Bi, Kun Huang
Summary: This study reviewed related reports to determine the most appropriate pharmacological strategy for CMS caused by COLQ mutations. Beta-adrenergic agonists were found to be the first-line treatment option for CMS patients with COLQ mutations, while AChEIs should be avoided.
CURRENT NEUROPHARMACOLOGY
(2023)
Letter
Clinical Neurology
Wendy H. Raskind, Jennifer R. Friedman, Emmanuel Roze, Aurelie Meneret, Dong-Hui Chen, Thomas D. Bird
MOVEMENT DISORDERS
(2017)
Article
Genetics & Heredity
Ashley P. L. Marsh, Timothy J. Edwards, Charles Galea, Helen M. Cooper, Elizabeth C. Engle, Saumya S. Jamuar, Aurelie Meneret, Marie-Laure Moutard, Caroline Nava, Agnes Rastetter, Gail Robinson, Guy Rouleau, Emmanuel Roze, Megan Spencer-Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A. Walsh, Timothy W. Yu, Delphine Heron, Elliott H. Sherr, Linda J. Richards, Christel Depienne, Richard J. Leventer, Paul J. Lockhart
Article
Medicine, Research & Experimental
Aurelie Meneret, Elizabeth A. Franz, Orlane Trouillard, Thomas C. Oliver, Yvrick Zagar, Stephen P. Robertson, Quentin Welniarz, R. J. MacKinlay Gardner, Cecile Gallea, Myriam Srour, Christel Depienne, Christine L. Jasoni, Caroline Dubacq, Florence Riant, Jean-Charles Lamy, Marie-Pierre Morel, Raphael Guerois, Jessica Andreani, Coralie Fouquet, Mohamed Doulazmi, Marie Vidailhet, Guy A. Rouleau, Alexis Brice, Alain Chedotal, Isabelle Dusart, Emmanuel Roze, David Markie
JOURNAL OF CLINICAL INVESTIGATION
(2017)
Article
Clinical Neurology
Emmanuel Roze, Yulia Worbe, Celine Louapre, Aurelie Meneret, Cecile Delorme, Eavan McGovern, Marta Ruiz, Jean Capron, Raphael Le Bouc, Stephane Epelbaum, Sonia Alamowitch, Alexandre Duguet, Marie-Christine Renaud, Olivier Palombi, Tamara M. Pringsheim, Constance Flamand-Roze, Olivier Steichen
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2018)
Article
Behavioral Sciences
Louis Cousyn, David Grabli, Danielle Seilhean, Carole Azuar, Camille Huiban, Stephane Epelbaum, Elodie Bouaziz-Amar, Jean-Philippe Brandel, Damien Galanaud, Aurelie Meneret
Article
Neurosciences
Quentin Welniarz, Cecile Gallea, Jean-Charles Lamy, Aurelie Meneret, Traian Popa, Romain Valabregue, Benoit Beranger, Vanessa Brochard, Constance Flamand-Roze, Oriane Trouillard, Cecilia Bonnet, Norbert Brueggemann, Pierre Bitoun, Bertrand Degos, Cecile Hubsch, Elodie Hainque, Jean-Louis Golmard, Marie Vidailhet, Stephane Lehericy, Isabelle Dusart, Sabine Meunier, Emmanuel Roze
HUMAN BRAIN MAPPING
(2019)
Review
Clinical Neurology
Julien F. Bally, Aurelie Meneret, Emmanuel Roze, Melanie Anderson, David Grabli, Anthony E. Lang
MOVEMENT DISORDERS
(2018)
Article
Clinical Neurology
Raffaella Moretti, Lionel Arnaud, Delphine Bouteiller, Oriane Trouillard, Patricia Moreau, Julien Buratti, Agnes Rastetter, Boris Keren, Vincent Des Portes, Joseph Toulouse, Isabelle Gourfinkel-An, Eric Leguern, Christel Depienne, Cyril Mignot, Caroline Nava
Summary: This study describes two families with individuals affected by biallelic SCN1A variants, possibly explaining their phenotype. The findings provide additional evidence that homozygous SCN1A variants can cause GEFS+ and suggest that recessive inheritance may decrease the seizure threshold when combined.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2021)
Article
Clinical Neurology
Aurelie Meneret, Shekeeb S. Mohammad, Laura Cif, Diane Doummar, Claudio DeGusmao, Mathieu Anheim, Magalie Barth, Philippe Damier, Nathalie Demonceau, Jennifer Friedman, Cecile Gallea, Domitille Gras, Juliana Gurgel-Giannetti, Emily A. Innes, Jan Necpal, Florence Riant, Sandrine Sagnes, Catherine Sarret, Yury Seliverstov, Vijayashankar Paramanandam, Kuldeep Shetty, Christine Tranchant, Mohamed Doulazmi, Marie Vidailhet, Tamara Pringsheim, Emmanuel Roze
Summary: A retrospective study found that caffeine is effective in improving symptoms of ADCY5-related dyskinesia and should be considered as a first-line treatment option with good tolerability.
MOVEMENT DISORDERS
(2022)
Letter
Clinical Neurology
Thomas Wirth, Aurelie Meneret, Nathalie Drouot, Gabrielle Rudolf, Ouhaid Lagha Boukbiza, Jamel Chelly, Christine Tranchant, Amelie Piton, Emmanuel Roze, Mathieu Anheim
MOVEMENT DISORDERS
(2022)
Article
Genetics & Heredity
Oriane Trouillard, Pauline Dupaigne, Margaux Dunoyer, Mohamed Doulazmi, Morten Krogh Herlin, Solene Frismand, Audrey Riou, Veronique Legros, Guillaume Chevreux, Xavier Veaute, Didier Busso, Coralie Fouquet, Cecile Saint-Martin, Aurelie Meneret, Alain Trembleau, Isabelle Dusart, Caroline Dubacq, Emmanuel Roze
Summary: Mirror movements are involuntary movements of one hand that mirror intentional movements of the other hand. Congenital mirror movements (CMM) is a rare genetic disorder with autosomal dominant inheritance, in which mirror movements are the main neurological manifestation. RAD51 haploinsufficiency, including loss-of-function of non-truncating variants, results in CMM.
JOURNAL OF MEDICAL GENETICS
(2023)
Review
Clinical Neurology
Poornima Jayadev Menon, Christelle Nilles, Laura Silveira-Moriyama, Ruiyi Yuan, Claudio M. de Gusmao, Alexander Muenchau, Miryam Carecchio, Steve Grossman, Gay Grossman, Aurelie Meneret, Emmanuel Roze, Tamara Pringsheim
Summary: This scoping review summarizes the available clinical literature on ADCY5-RMD. Patients with ADCY5-RMD experience permanent and/or paroxysmal hyperkinetic movements, which can be worsened by environmental triggers. Treatment options are limited, but caffeine, benzodiazepines, and deep brain stimulation have shown some effectiveness.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Clinical Neurology
Asya Ekmen, Mohamed Doulazmi, Aurelie Meneret, Prasanthi Jegatheesan, Anais Herve, Philippe Damier, Domitille Gras, Agathe Roubertie, Juliette Piard, Eugenie Mutez, Clement Tarrano, Quentin Welniarz, Marie Vidailhet, Yulia Worbe, Cecile Gallea, Emmanuel Roze
Summary: This study investigated the relationship between non-motor symptoms and health-related quality of life (HrQoL) in PKD patients caused by monoallelic pathogenic variants of PRRT2. The study found that non-motor manifestations were an important determinant of HrQoL and patients also experienced higher levels of self-esteem and stigmatization. The results have important implications for patient management and medical education about PKD.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Clinical Neurology
Camille Giron, Emmanuel Roze, Bertrand Degos, Aurelie Meneret, Claude Jardel, Annie Lannuzel, Fanny Mochel
TREMOR AND OTHER HYPERKINETIC MOVEMENTS
(2018)
