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

Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia.

Neurology - 23 May 2006

Spacey S D, Adams P J, Lam P C P, Materek L A, Stoessl A J, Snutch T P, Hsiung G-Y R

Abstract excerpt

Paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by attacks of dystonia or chorea lasting minutes to hours. Recently, mutations in the myofibrillogenesis regulator 1 gene (MR-1) have been identified in 10 unrelated PNKD kindreds. The authors describe a Canadian PNKD family who does not have mutations in the MR-1 gene and links to a separate locus at 2q31. This indicates that there are at least two...

Read the complete abstract on PubMed

Topics

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

Share to Canada
Share to Chorea
Share to Chromosomes, Human, Pair 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Heterogeneity

Share to Glutamate Decarboxylase

Share to Isoenzymes

Share to Lod Score

Share to Muscle Proteins

Source

Identifiers

PMID: 16717228
DOI: 10.1212/01.wnl.0000217332.51740.7c

Genes

PNKD

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

Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia.PMID 16717228Read ↗

Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.Semantic proximity Read ↗

Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.Semantic proximity Read ↗

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.Semantic proximity Read ↗

Genetics of paroxysmal dyskinesias.Semantic proximity Read ↗

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.Semantic proximity Read ↗

Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.Semantic proximity Read ↗

Paroxysmal dyskinesiasSemantic proximity Read ↗

Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.Semantic proximity Read ↗

A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland.Semantic proximity Read ↗

A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.Semantic proximity Read ↗

Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation.Semantic proximity Read ↗

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.Semantic proximity Read ↗

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