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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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October 2022; 8 (5)

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Research Articles

  • Open Access
    A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson DiseaseBaseline Results
    Stella Jensen-Roberts, Taylor L. Myers, Peggy Auinger, Paul Cannon, Helen M. Rowbotham, Daniella Coker, Eli Chanoff, Julia Soto, Meghan Pawlik, Katherine Amodeo, Saloni Sharma, Blanca Valdovinos, Renee Wilson, Aayush Sarkar, Michael P. McDermott, Roy N. Alcalay, Kevin Biglan, Daniel Kinel, Caroline Tanner, Reni Winter-Evans, Erika F. Augustine, Robert G. Holloway, E. Ray Dorsey, Ruth B. Schneider
    • Abstract
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  • Open Access
    Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis
    Maurizio Grassano, Giorgia Brodini, Giovanni De Marco, Federico Casale, Giuseppe Fuda, Paolina Salamone, Maura Brunetti, Luca Sbaiz, Salvatore Gallone, Paolo Cugnasco, Alessandro Bombaci, Rosario Vasta, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Bryan J. Traynor, Adriano Chio
    • Abstract
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  • Open Access
    A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data
    Michael E. Belloy, Yann Le Guen, Sarah J. Eger, Valerio Napolioni, Michael D. Greicius, Zihuai He
    • Abstract
    • Full Text
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  • Open Access
    High Hereditary Transthyretin-Related Amyloidosis Prevalence in CreteGenetic Heterogeneity and Distinct Phenotypes
    Minas Tzagournissakis, Emmanouil Foukarakis, Dimitrios Samonakis, Miltiadis Tsilimbaris, Kleita Michaelidou, Lambros Mathioudakis, Anastasios Marinis, Emmanouil Giannakoudakis, Cleanthe Spanaki, Irene Skoula, Sofia Erimaki, Georgios Amoiridis, Georgios Koutsis, Sofia Koukouraki, Kostas Stylianou, Andreas Plaitakis, Panayiotis D. Mitsias, Ioannis Zaganas
    • Abstract
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  • Open Access
    Genetic Evidence for Protective Effects of Angiotensin-Converting Enzyme Against Alzheimer Disease But Not Other Neurodegenerative Diseases in European Populations
    David K. Ryan, Ville Karhunen, Bowen Su, Matthew Traylor, Tom G. Richardson, Stephen Burgess, Ioanna Tzoulaki, Dipender Gill
    • Abstract
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  • Open Access
    Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants
    Amy Christina Ferguson, Sophie Thrippleton, David Henshall, Ed Whittaker, Bryan Conway, Malcolm MacLeod, Rainer Malik, Konrad Rawlik, Albert Tenesa, Cathie Sudlow, Kristiina Rannikmae
    • Abstract
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  • Open Access
    Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region
    Christelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, Kyle J. Steinman, Sarah J. Spence, Melissa Ramocki, Elysa Jill Marco, LeeAnne Green Snyder, John E. Spiro, Wendy K. Chung, Poduri Annapurna, Elliott H. Sherr
    • Abstract
    • Full Text
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  • Open Access
    Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary NeuropathyGenotype and Phenotype Overview
    Signe Setlere, Marija Jurcenko, Linda Gailite, Dmitrijs Rots, Viktorija Kenina
    • Abstract
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  • Open Access
    Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy
    Jan H. Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G. Janzarik, Annick Klabunde-Cherwon, Gerhard Kluger, Hiltrud Muhle, Manuela Pendziwiat, Rikke S. Møller, Konrad Platzer, Joana Larupa Santos, Julian Schröter, Georg F. Hoffmann, Stefan Kölker, Steffen Syrbe
    • Abstract
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  • Open Access
    Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery StenosisA 15-Year Follow-up Study
    Shuhei Okazaki, Takeshi Yoshimoto, Mariko Ohara, Masatoshi Takagaki, Hajime Nakamura, Kotaro Watanabe, Yasufumi Gon, Kenichi Todo, Tsutomu Sasaki, Hiroyuki Araki, Tomomi Yamada, Shirou Manabe, Haruhiko Kishima, Masafumi Ihara, Hideki Mochizuki
    • Abstract
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  • Open Access
    Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
    Kento Matoba, Norio Chihara, Wataru Satake, Hideki Tokuoka, Yoshihisa Otsuka, Takehiro Ueda, Kenji Sekiguchi, Masayuki Itoh, Riki Matsumoto
    • Abstract
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  • Open Access
    Genetic Testing for Malformations of Cortical DevelopmentA Clinical Diagnostic Study
    Barbora Straka, Barbora Hermanovska, Lenka Krskova, Josef Zamecnik, Marketa Vlckova, Miroslava Balascakova, Pavel Tesner, Petr Jezdik, Michal Tichy, Martin Kyncl, Alena Musilova, Petra Lassuthova, Petr Marusic, Pavel Krsek
    • Abstract
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Clinical/Scientific Notes

  • Open Access
    A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia
    Flavia Palombo, Chiara La Morgia, Claudio Fiorini, Leonardo Caporali, Maria Lucia Valentino, Vincenzo Donadio, Rocco Liguori, Valerio Carelli
    • Abstract
    • Full Text
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  • Open Access
    Filamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease–like Vascular Formation Associated With RNF213 p.R4810K Variant
    Yasuhito Ikeuchi, Jiro Kitayama, Noriyuki Sahara, Takuya Okata, Noriko Miyake, Naomichi Matsumoto, Takanari Kitazono, Tetsuro Ago
    • Abstract
    • Full Text
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  • Open Access
    Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy
    Roberta Solazzi, Marco Moscatelli, Davide Rossi Sebastiano, Laura Canafoglia, Laura Pezzoli, Maria Iascone, Tiziana Granata
    • Abstract
    • Full Text
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  • Open Access
    Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy
    Yasuko Kuroha, Takanobu Ishiguro, Mari Tada, Norikazu Hara, Kei Murayama, Izumi Kawachi, Kensaku Kasuga, Akinori Miyashita, Arika Hasegawa, Tetsuya Takahashi, Nae Matsubara, Osamu Onodera, Akiyoshi Kakita, Ryoko Koike, Takeshi Ikeuchi
    • Abstract
    • Full Text
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Reviews

  • Open Access
    RFC1-Related DiseaseMolecular and Clinical Insights
    Kayli Davies, David J. Szmulewicz, Louise A. Corben, Martin Delatycki, Paul J. Lockhart
    • Abstract
    • Full Text
    • Full Text (PDF)
  • Open Access
    Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy
    Leslie J. Roberts, Michael McVeigh, Linda Seiderer, Ian H. Harding, Louise A. Corben, Martin Delatycki, David J. Szmulewicz
    • Abstract
    • Full Text
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NeuroImage

  • Open Access
    3-Methylglutaconic Aciduria Type IA Rare Cause of Late-Onset Leukoencephalopathy
    Chiara Benzoni, Stefania Magri, Marco Moscatelli, Silvia Fenu, Claudio Caccia, Franco Taroni, Ettore Salsano, Daniela Di Bella
    • Full Text
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Corrections

  • Expanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic StrategiesA Review
    • Full Text
    • Full Text (PDF)
  • Epilepsy Course and Developmental Trajectories in STXBP1-DEE
    • Full Text
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