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

Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.

European journal of human genetics : EJHG - 1 Jun 2004

Verbeek Dineke S, Piersma Sytse J, Hennekam Eric F A M, Ippel Elly F, Pearson Peter L, Sinke Richard J

Abstract excerpt

This pilot study was initiated to show the existence of founder effects in the Dutch autosomal dominant cerebellar ataxia (ADCA) population. The ADCAs comprise a clinically heterogeneous group of neurodegenerative disorders and the estimated prevalence in the Netherlands is approximately 3:100 000 individuals. Here, we focused on the SCA3 and SCA6 genes because mutations in these genes occur most frequently in...

Read the complete abstract on PubMed

Topics

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

Share to Ataxin-3
Share to Calcium Channels

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

Share to Founder Effect

Share to Machado-Joseph Disease

Share to Netherlands

Share to Pilot Projects

Share to Spinocerebellar Ataxias

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 15026782
DOI: 10.1038/sj.ejhg.5201167

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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

Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.PMID 15026782Read ↗

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?Semantic proximity Read ↗

Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families.Semantic proximity Read ↗

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.Semantic proximity Read ↗

Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families.Semantic proximity Read ↗

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.Semantic proximity Read ↗

Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia.Semantic proximity Read ↗

A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan.Semantic proximity Read ↗

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.Semantic proximity Read ↗

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.Semantic proximity Read ↗

[Autosomal dominant cerebellar ataxias in the Netherlands: a national inventory].Semantic proximity Read ↗

SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias.Semantic proximity Read ↗

Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6.Semantic proximity Read ↗

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