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

New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

Parkinsonism & related disorders - 1 Jul 2012

Barbano Richard L, Hill Deborah F, Snively Beverly M, Light Laney S, Boggs Niki, McCall W Vaughn, Stacy Mark, Ozelius Laurie, Sweadner Kathleen J, Brashear Allison

Abstract excerpt

BACKGROUND: A woman from Italy presented with dystonic leg symptoms at the age of 59. Rapid-onset dystonia-parkinsonism (RDP) was not suspected until 3 affected children (2 male, 1 female) with presentations consistent with the disorder were recognized. METHODS: The mother and four of her children (3 with and 1 without dystonia) were evaluated with an extensive battery including standardized history questionnaire...

Read the complete abstract on PubMed

Topics

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

Share to Alcohol Drinking
Share to Alcoholism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Anxiety Disorders

Share to Dystonic Disorders

Share to Hot Temperature

Share to Mood Disorders

Share to Neuropsychological Tests

Share to Sodium-Potassium-Exchanging ATPase

Source

Open in PubMed Open full text

Identifiers

PMID: 22534615
DOI: 10.1016/j.parkreldis.2012.03.020
PMCID: PMC3753404

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

New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.PMID 22534615Read ↗

Revising rapid‐onset dystonia–parkinsonism: Broadening indications for ATP1A3 testingSemantic proximity Read ↗

Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred.Semantic proximity Read ↗

The Expanding Phenotypic Spectrums Associated with ATP1A3 Mutation in a Family with Rapid-Onset Dystonia Parkinsonism.Semantic proximity Read ↗

Atypical presentation of rapid-onset dystonia-parkinsonism in a toddler with a novel mutation in the ATP1A3 gene.Semantic proximity Read ↗

Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families.Semantic proximity Read ↗

[A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review].Semantic proximity Read ↗

The expanding clinical and genetic spectrum of ATP1A3-related disorders.Semantic proximity Read ↗

ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysisSemantic proximity Read ↗

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.Semantic proximity Read ↗

The diagnostic spectrum of ATP1A3-related disorders: 3 new patients.Semantic proximity Read ↗

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings.Semantic proximity Read ↗

Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.Semantic proximity Read ↗

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