SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

doi:10.1093/brain/aww079

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

Brain : a journal of neurology - 1 May 2016

Synofzik Matthis, Smets Katrien, Mallaret Martial, Di Bella Daniela, Gallenmüller Constanze, Baets Jonathan, Schulze Martin, Magri Stefania, Sarto Elisa, Mustafa Mona, Deconinck Tine, Haack Tobias, Züchner Stephan, Gonzalez Michael, Timmann Dagmar, Stendel Claudia, Klopstock Thomas, Durr Alexandra, Tranchant Christine, Sturm Marc, Hamza Wahiba, Nanetti Lorenzo, Mariotti Caterina, Koenig Michel, Schöls Ludger, Schüle Rebecca, de Jonghe Peter, Anheim Mathieu, Taroni Franco, Bauer Peter

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cerebellar Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Evoked Potentials, Motor

Share to Genes, Recessive

Share to Heredodegenerative Disorders, Nervous System

Share to Muscles

Share to Neuroimaging

Share to Positron-Emission Tomography

Source

Open in PubMed Open full text

Identifiers

PMID: 27086870
DOI: 10.1093/brain/aww079
PMCID: PMC6363274

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.PMID 27086870Read ↗

SYNE1 mutations in autosomal recessive cerebellar ataxia.Semantic proximity Read ↗

Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.Semantic proximity Read ↗

Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.Semantic proximity Read ↗

Identifying SYNE1 ataxia and extending the mutational spectrum in Korea.Semantic proximity Read ↗

Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.Semantic proximity Read ↗

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.Semantic proximity Read ↗

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.Semantic proximity Read ↗

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.Semantic proximity Read ↗

Duplication within 14q32.13 implicates a chimeric <i>CLMN</i> :: <i>SYNE3</i> RNA transcript in cerebellar ataxiaSemantic proximity Read ↗

Two Cases of Autosomal Recessive Spinocerebellar Ataxia-8 Showing Two Novel Variants of SYNE1 in Japanese Families.Semantic proximity Read ↗

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.