Discover Community Create You

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

Article

A new dominantly inherited pure cerebellar ataxia, SCA 30

8 Nov 2008

Abstract excerpt

BACKGROUND: The spinocerebellar ataxias (SCAs) are clinically and genetically heterogeneous. Currently, 27 forms are known, with the causative gene identified in 16. Although the majority of dominant pedigrees worldwide have SCAs 1, 2, 3, 6 or 8, new SCAs continue to be delineated. We describe a new disorder: SCA 30. METHODS: An Australian family of Anglo-Celtic ethnicity manifested a relatively pure, slowly...

Read the complete abstract on PubMed

Topics

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

Share to Fetal and Pediatric Neurological Disorders
Share to Genetic Neurodegenerative Diseases
Share to Glycogen Storage Diseases and Myoclonus

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 18996908
DOI: 10.1136/jnnp.2008.159459

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new dominantly inherited pure cerebellar ataxia, SCA 30PMID 18996908Read ↗

Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locusSemantic proximity Read ↗

Recessive ataxias.Semantic proximity Read ↗

Clinical and Genetic Characteristics of SCA27B: A Global Systematic Review and Meta- AnalysisSemantic proximity Read ↗

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.Semantic proximity Read ↗

Autosomal-dominant cerebellar ataxias.Semantic proximity Read ↗

The inherited cerebellar ataxias: an update.Semantic proximity Read ↗

The spinocerebellar ataxias.Semantic proximity Read ↗

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.Semantic proximity Read ↗

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.Semantic proximity Read ↗

Hereditary Ataxias: From Bench to Clinic, where Do We Stand?Semantic proximity Read ↗

Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.Semantic proximity Read ↗

Milestones in genetics of cerebellar ataxias.Semantic proximity Read ↗

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