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

Founder mutation for Huntington disease in Caucasus Jews.

Clinical genetics - 1 Feb 2015

Melamed O, Behar D M, Bram C, Magal N, Pras E, Reznik-Wolf H, Borochowitz Z U, Davidov B, Mor-Cohen R, Baris H N

Abstract excerpt

Huntington disease (HD), an autosomal dominant disorder involving HTT, is characterized by chorea, psychiatric illness and cognitive decline. Diagnosis and age of onset depend on the degree of expansion of the trinucleotide CAG repeat within the gene. The prevalence of HD is known for Europeans but has not been studied in the Israeli population. Between 2006 and 2011 we diagnosed in our adult genetics clinic ten...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Carrier Screening
Share to Huntingtin Protein

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

Share to Huntington Disease

Share to Israel

Share to Nerve Tissue Proteins

Share to Trinucleotide Repeats

Share to White People

Source

Identifiers

PMID: 24405192
DOI: 10.1111/cge.12344

Genes

HTT

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

Founder mutation for Huntington disease in Caucasus Jews.PMID 24405192Read ↗

Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s DiseaseSemantic proximity Read ↗

Incidence of Huntington disease in a northeastern Spanish region: A 13-year retrospective study at tertiary care centreSemantic proximity Read ↗

Epidemiology of Huntington disease.Semantic proximity Read ↗

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

Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre.Semantic proximity Read ↗

Genetic features of Huntington disease in Cuban population: implications for phenotype, epidemiology and predictive testing.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 Colombia.Semantic proximity Read ↗

Huntington's disease in Greece: the experience of 14 years.Semantic proximity Read ↗

Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice.Semantic proximity Read ↗

Epidemiology of Huntington disease: first post‐ HTT gene analysis of prevalence in ItalySemantic proximity Read ↗

Author response: Huntington disease reduced penetrance alleles occur at high frequency in the general population.Semantic proximity Read ↗

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