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

Expanding the clinical phenotype of SNCA duplication carriers.

Movement disorders : official journal of the Movement Disorder Society - 15 Sept 2009

Nishioka Kenya, Ross Owen A, Ishii Kenji, Kachergus Jennifer M, Ishiwata Kiichi, Kitagawa Mayumi, Kono Satoshi, Obi Tomokazu, Mizoguchi Koichi, Inoue Yuichi, Imai Hisamasa, Takanashi Masashi, Mizuno Yoshikuni, Farrer Matthew J, Hattori Nobutaka

Abstract excerpt

SNCA duplication is a recognized cause of familial Parkinson's disease (PD). We aimed to explore the genetic and clinical variability in the disease manifestation. Molecular characterization was performed using real-time PCR, SNP arrays, and haplotype analysis. We further studied those patients who were found to harbor SNCA duplication with olfactory function tests, polysomnography, and PET. We identified four...

Read the complete abstract on PubMed

Topics

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

Share to alpha-Synuclein
Share to Carbon Isotopes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cocaine

Share to Fluorodeoxyglucose F18

Share to Gene Duplication

Share to Positron-Emission Tomography

Share to Sensory Thresholds

Source

Identifiers

PMID: 19562770
DOI: 10.1002/mds.22682

Genes

SNCA

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

Expanding the clinical phenotype of SNCA duplication carriers.PMID 19562770Read ↗

Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia.Semantic proximity Read ↗

Alpha‐synuclein gene duplication: Marked intrafamilial variability in two novel pedigreesSemantic proximity Read ↗

SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes.Semantic proximity Read ↗

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations.Semantic proximity Read ↗

Autosomal dominant Parkinson's disease caused by SNCA duplicationsSemantic proximity Read ↗

alpha-Synuclein multiplication analysis in Italian familial Parkinson disease.Semantic proximity Read ↗

A population scale analysis of rare SNCA variation in the UK Biobank.Semantic proximity Read ↗

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.Semantic proximity Read ↗

A population scale analysis of rare <i>SNCA</i> variation in the UK BiobankSemantic proximity Read ↗

Genetic Analysis and Literature Review of SNCA Variants in Parkinson's DiseaseSemantic proximity Read ↗

Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia.Semantic proximity Read ↗

Characterization of SNCA Multiplication in Parkinson's Disease: 2 New Cases and Evaluation of the LiteratureSemantic proximity Read ↗

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