%0 Journal Article
%A Synofzik, Matthis
%A Smets, Katrien
%A Mallaret, Martial
%A Di Bella, Daniela
%A Gallenmüller, Constanze
%A Baets, Jonathan
%A Schulze, Martin
%A Magri, Stefania
%A Sarto, Elisa
%A Mustafa, Mona
%A Deconinck, Tine
%A Haack, Tobias
%A Züchner, Stephan
%A Gonzalez, Michael
%A Timmann, Dagmar
%A Stendel, Claudia
%A Klopstock, Thomas
%A Durr, Alexandra
%A Tranchant, Christine
%A Sturm, Marc
%A Hamza, Wahiba
%A Nanetti, Lorenzo
%A Mariotti, Caterina
%A Koenig, Michel
%A Schöls, Ludger
%A Schüle, Rebecca
%A de Jonghe, Peter
%A Anheim, Mathieu
%A Taroni, Franco
%A Bauer, Peter
%T SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
%J Brain
%V 139
%N 5
%@ 1460-2156
%C Oxford
%I Oxford Univ. Press
%M DZNE-2020-04892
%P 1378-1393
%D 2016
%X Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene have been reported to cause a relatively pure, slowly progressive cerebellar recessive ataxia mostly identified in Quebec, Canada. Combining next-generation sequencing techniques and deep-phenotyping (clinics, magnetic resonance imaging, positron emission tomography, muscle histology), we here established the frequency, phenotypic spectrum and genetic spectrum of SYNE1 in a screening of 434 non-Canadian index patients from seven centres across Europe. Patients were screened by whole-exome sequencing or targeted panel sequencing, yielding 23 unrelated families with recessive truncating SYNE1 mutations (23/434 = 5.3
%K Adult
%K Aged
%K Brain: metabolism
%K Cerebellar Ataxia: diagnosis
%K Cerebellar Ataxia: diagnostic imaging
%K Cerebellar Ataxia: genetics
%K Cerebellar Ataxia: physiopathology
%K Cytoskeletal Proteins
%K Evoked Potentials, Motor: physiology
%K Female
%K Genes, Recessive
%K Heredodegenerative Disorders, Nervous System: diagnosis
%K Heredodegenerative Disorders, Nervous System: diagnostic imaging
%K Heredodegenerative Disorders, Nervous System: genetics
%K Heredodegenerative Disorders, Nervous System: physiopathology
%K High-Throughput Nucleotide Sequencing
%K Humans
%K Magnetic Resonance Imaging
%K Male
%K Middle Aged
%K Muscles: metabolism
%K Mutation, Missense
%K Nerve Tissue Proteins: genetics
%K Nerve Tissue Proteins: metabolism
%K Neuroimaging
%K Nuclear Proteins: genetics
%K Nuclear Proteins: metabolism
%K Phenotype
%K Positron-Emission Tomography
%K Young Adult
%K Cytoskeletal Proteins (NLM Chemicals)
%K Nerve Tissue Proteins (NLM Chemicals)
%K Nuclear Proteins (NLM Chemicals)
%K SYNE1 protein, human (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:27086870
%2 pmc:PMC6363274
%R 10.1093/brain/aww079
%U https://pub.dzne.de/record/138570