TY  - JOUR
AU  - Synofzik, Matthis
AU  - Smets, Katrien
AU  - Mallaret, Martial
AU  - Di Bella, Daniela
AU  - Gallenmüller, Constanze
AU  - Baets, Jonathan
AU  - Schulze, Martin
AU  - Magri, Stefania
AU  - Sarto, Elisa
AU  - Mustafa, Mona
AU  - Deconinck, Tine
AU  - Haack, Tobias
AU  - Züchner, Stephan
AU  - Gonzalez, Michael
AU  - Timmann, Dagmar
AU  - Stendel, Claudia
AU  - Klopstock, Thomas
AU  - Durr, Alexandra
AU  - Tranchant, Christine
AU  - Sturm, Marc
AU  - Hamza, Wahiba
AU  - Nanetti, Lorenzo
AU  - Mariotti, Caterina
AU  - Koenig, Michel
AU  - Schöls, Ludger
AU  - Schüle, Rebecca
AU  - de Jonghe, Peter
AU  - Anheim, Mathieu
AU  - Taroni, Franco
AU  - Bauer, Peter
TI  - SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
JO  - Brain
VL  - 139
IS  - 5
SN  - 1460-2156
CY  - Oxford
PB  - Oxford Univ. Press
M1  - DZNE-2020-04892
SP  - 1378-1393
PY  - 2016
AB  - 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
KW  - Adult
KW  - Aged
KW  - Brain: metabolism
KW  - Cerebellar Ataxia: diagnosis
KW  - Cerebellar Ataxia: diagnostic imaging
KW  - Cerebellar Ataxia: genetics
KW  - Cerebellar Ataxia: physiopathology
KW  - Cytoskeletal Proteins
KW  - Evoked Potentials, Motor: physiology
KW  - Female
KW  - Genes, Recessive
KW  - Heredodegenerative Disorders, Nervous System: diagnosis
KW  - Heredodegenerative Disorders, Nervous System: diagnostic imaging
KW  - Heredodegenerative Disorders, Nervous System: genetics
KW  - Heredodegenerative Disorders, Nervous System: physiopathology
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Middle Aged
KW  - Muscles: metabolism
KW  - Mutation, Missense
KW  - Nerve Tissue Proteins: genetics
KW  - Nerve Tissue Proteins: metabolism
KW  - Neuroimaging
KW  - Nuclear Proteins: genetics
KW  - Nuclear Proteins: metabolism
KW  - Phenotype
KW  - Positron-Emission Tomography
KW  - Young Adult
KW  - Cytoskeletal Proteins (NLM Chemicals)
KW  - Nerve Tissue Proteins (NLM Chemicals)
KW  - Nuclear Proteins (NLM Chemicals)
KW  - SYNE1 protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:27086870
C2  - pmc:PMC6363274
DO  - DOI:10.1093/brain/aww079
UR  - https://pub.dzne.de/record/138570
ER  -