Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.

doi:10.1136/jnnp-2014-309153

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

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.

Journal of neurology, neurosurgery, and psychiatry - 1 Sept 2015

Obayashi Masato, Stevanin Giovanni, Synofzik Matthis, Monin Marie-Lorraine, Duyckaerts Charles, Sato Nozomu, Streichenberger Nathalie, Vighetto Alain, Desestret Virginie, Tesson Christelle, Wichmann H-Erich, Illig Thomas, Huttenlocher Johanna, Kita Yasushi, Izumi Yuishin, Mizusawa Hidehiro, Schöls Ludger, Klopstock Thomas, Brice Alexis, Ishikawa Kinya, Dürr Alexandra

Abstract excerpt

OBJECTIVE: Spinocerebellar ataxia 36 (SCA36) is an autosomal-dominant neurodegenerative disorder caused by a large (>650) hexanucleotide GGCCTG repeat expansion in the first intron of the NOP56 gene. The aim of this study is to clarify the prevalence, clinical and genetic features of SCA36. METHODS: The expansion was tested in 676 unrelated SCA index cases and 727 controls from France, Germany and Japan. Clinical...

Read the complete abstract on PubMed

Topics

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

Share to Atrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Brain

Share to Haplotypes

Share to Introns

Share to Nerve Tissue Proteins

Share to Nuclear Proteins

Share to Spinocerebellar Ataxias

Share to Trinucleotide Repeat Expansion

Source

Open in PubMed

Identifiers

PMID: 25476002
DOI: 10.1136/jnnp-2014-309153

Genes

NOP56

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.PMID 25476002Read ↗

Spinocerebellar ataxia type 36 in the Han ChineseSemantic proximity Read ↗

'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.Semantic proximity Read ↗

Clinical features of SCA36Semantic proximity Read ↗

Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China.Semantic proximity Read ↗

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern SpainSemantic proximity Read ↗

Another common genetic ataxia in South Korea: Spinocerebellar ataxia 36.Semantic proximity Read ↗

Another Common Genetic Ataxia in South Korea: Spinocerebellar ataxia 36Semantic proximity Read ↗

[Recent advances in clinical and genetic research of spinocerebellar ataxia type 36].Semantic proximity Read ↗

Characteristic RNA foci of the abnormal hexanucleotide GGCCUG repeat expansion in spinocerebellar ataxia type 36 ( A sidan)Semantic proximity Read ↗

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.Semantic proximity Read ↗

A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia.Semantic proximity Read ↗

Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion.Semantic proximity Read ↗

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