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

A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 May 2024

Jin Shan, Sun Zhengzhe, Fang Xiang, Chen Huaizhen, Yang Wenming, Wang Shan, Fan Jinwei

Abstract excerpt

Chorea-acanthocytosis (ChAc) is a rare clinical genetic disorder of the nervous system, which is characterized by choreiform movement disorder, cognitive decline, and psychiatric disorders. ChAc is mostly diagnosed based on its typical clinical manifestations and the increased number of acanthocytes in peripheral blood smears. Here, we report a patient, who has the characteristic clinical manifestations of ChAc...

Read the complete abstract on PubMed

Topics

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

Share to Movement Disorders
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Vesicular Transport Proteins

Source

Identifiers

PMID: 37985634
DOI: 10.1007/s10072-023-07174-0

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

A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte.PMID 37985634Read ↗

Chorea-echinocytosis caused by two novel compound heterozygous mutations in the VPS13A gene: a case report and literature reviewSemantic proximity Read ↗

Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.Semantic proximity Read ↗

Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).Semantic proximity Read ↗

Two Case Reports of Chorea-acanthocytosis and Review of LiteratureSemantic proximity Read ↗

Clinical and genetic findings of three patients with chorea-acanthocytosis.Semantic proximity Read ↗

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.Semantic proximity Read ↗

Progressive ataxia and orolingual chorea revealing a novel VPS13A variant: a case report of chorea-acanthocytosis without peripheral acanthocytosis with a literature review.Semantic proximity Read ↗

Chorea-acanthocytosis.Semantic proximity Read ↗

Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree.Semantic proximity Read ↗

Clinical case report: Chorea-acanthocytosis of the c.9109 C>T variant in the VPS13A geneSemantic proximity Read ↗

Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).Semantic proximity Read ↗

Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene.Semantic proximity Read ↗

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