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

Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family.

Neurology - 14 Nov 2006

Schneider S A, van de Warrenburg B P C, Hughes T D, Davis M, Sweeney M, Wood N, Quinn N P, Bhatia K P

Abstract excerpt

We describe clinical and genetic analysis of a family with spinocerebellar ataxia 17 (SCA17) presenting with a Huntington disease-like (HDL) syndrome. Clinically diagnosed, HD is genetically heterogeneous. Differential diagnosis includes SCA17. However, SCA17 HDL presentation has been observed only sporadically or in solitary individuals within a family. HDL phenotypic homogeneity in SCA17 has not been described....

Read the complete abstract on PubMed

Topics

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

Share to Atrophy
Share to Diagnosis, Differential
Share to Huntington Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Inheritance Patterns

Share to Spinocerebellar Ataxias

Share to Syndrome

Share to TATA-Box Binding Protein

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 17101913
DOI: 10.1212/01.wnl.0000242740.01273.00

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

Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family.PMID 17101913Read ↗

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17Semantic proximity Read ↗

Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).Semantic proximity Read ↗

A systematic review of the intergenerational aspects and the diverse genetic profiles of Huntington's disease.Semantic proximity Read ↗

Uncovering the Genetic and Molecular Features of Huntington's Disease in Northern ColombiaSemantic proximity Read ↗

Huntington's disease phenocopy syndromes.Semantic proximity Read ↗

Huntington's disease phenocopies are clinically and genetically heterogeneous.Semantic proximity Read ↗

Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion.Semantic proximity Read ↗

SCA17 homozygote showing Huntington's disease-like phenotype.Semantic proximity Read ↗

Huntington's disease look-alikes.Semantic proximity Read ↗

Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype.Semantic proximity Read ↗

Huntington disease and Huntington disease-like in a case series from Brazil.Semantic proximity Read ↗

The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment.Semantic proximity Read ↗

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