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

FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family.

Parkinsonism & related disorders - 1 Nov 2014

Gündüz Ayşegül, Eken Aslı Gündoğdu, Bilgiç Başar, Hanagasi Hasmet A, Bilgüvar Kaya, Günel Murat, Başak A Nazlı, Ertan Sibel

Abstract excerpt

OBJECTIVE: FBXO7 mutations (PARK 15), first reported in 2008, are among the monogenic causes of early-onset parkinsonism. Classically, PARK 15 was suggested to correspond to previously described pallido-pyramidal syndrome. Here, we report clinical and genetic findings in a unique family of Kurdish origin with an FBXO7 mutation and presenting with diverse clinical phenotypes. METHODS: The family consisted of 14...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Chorea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to F-Box Proteins

Share to Heterozygote

Share to Homozygote

Share to Parkinsonian Disorders

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 25169713
DOI: 10.1016/j.parkreldis.2014.07.016

Genes

FBXO7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family.PMID 25169713Read ↗

Expanding the Clinical and Mutational Spectrum of FBXO7-Related Parkinsonism: A Novel Italian Family and Comprehensive Literature Review.Semantic proximity Read ↗

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.Semantic proximity Read ↗

A novel FBXO7-R345P mutation in a Chinese family with autosomal recessive parkinsonian-pyramidal syndrome.Semantic proximity Read ↗

A new F-box protein 7 gene mutation causing typical Parkinson's disease.Semantic proximity Read ↗

F-box only protein 7 gene in parkinsonian-pyramidal disease.Semantic proximity Read ↗

Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7Semantic proximity Read ↗

Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence.Semantic proximity Read ↗

Clinical Variability of SYNJ1-Associated Early-Onset ParkinsonismSemantic proximity Read ↗

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.Semantic proximity Read ↗

A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism.Semantic proximity Read ↗

Systematic mutational analysis of FBXO7 in a Parkinson's disease population from southern Spain.Semantic proximity Read ↗

Paroxysmal Movement DisordersSemantic proximity Read ↗

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