Neurogenetics

Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival

Tamar Gur Hartman, Keren Yosovich, Hila Gur Michaeli, Lubov Blumkin, Liat Ben-Sira, Dorit Lev, Tally Lerman-Sagie, Ayelet Zerem

Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect

Marta Melis, Andrea Molari, Gianluca Floris, Sarah Vascellari, Luisa Balestrino, Anna Ladogana, Anna Poleggi, Piero Parchi, Giovanni Cossu, Maurizio Melis, Sandro Orrù, Giovanni Defazio

A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures

Reeval Segel, Adi Aran, Suleyman Gulsuner, Hiroki Nakamura, Tzvia Rosen, Tom Walsh, Hiroto Denda, Sharon Zeligson, Katsuki Eto, Rachel Beeri, Haruka Okai, Mary-Claire King, Ephrat Levy-Lahad, Kouichi Funato, Paul Renbaum

Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy

Marketa Wayhelova, Michal Ryzí, Jan Oppelt, Eva Hladilkova, Vladimira Vallova, Lenka Krskova, Marcela Vilemova, Hana Polackova, Renata Gaillyova, Petr Kuglik

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

Massimo Santoro, Alessia Perna, Piergiorgio La Rosa, Sara Petrillo, Fiorella Piemonte, Salvatore Rossi, Vittorio Riso, Tommaso Filippo Nicoletti, Anna Modoni, Maria Grazia Pomponi, Pietro Chiurazzi, Gabriella Silvestri

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

Shanice Beerepoot, Silvy J.M. van Dooren, Gajja S. Salomons, Jaap Jan Boelens, Edwin H. Jacobs, Marjo S. van der Knaap, André B.P. van Kuilenburg, Nicole I. Wolf

Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report

Daniel Halperin, Aviad Sapir, Ohad Wormser, Max Drabkin, Yuval Yogev, Vadim Dolgin, Hagit Flusser, Ohad S. Birk

Is NIPA1-associated hereditary spastic paraplegia always ‘pure’? Further evidence of motor neurone disease and epilepsy as rare manifestations

Matthew Tanti, Diane Cairns, Nasir Mirza, Emma McCann, Carolyn Young

Acknowledgement to referees 2019/2020