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

Clinical, genetic, and advanced neuroimaging features in adult siblings with Q10 deficiency due to COQ4 mutation: Review of literature.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 13 Jan 2026

Ökçesiz İzzet, Odabaş Mustafa Savtekin, Gültekin Murat, Çıplaklıgil Aslı

Abstract excerpt

OBJECTIVE: To describe two adult siblings with a COQ4 gene mutation presenting with progressive ataxia and discuss advanced magnetic resonance imaging (MRI) findings. MATERIALS AND METHODS: A 34-year-old woman and her 29-year-old brother, underwent standardized neurological evaluation and MRI including structural sequences with volumetric morphometry, diffusion tensor imaging (DTI) tractography, arterial...

Read the complete abstract on PubMed

Topics

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

Share to Alkyl and Aryl Transferases
Share to Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Mitochondrial Diseases

Share to Muscle Weakness

Share to Neuroimaging

Share to Siblings

Share to Ubiquinone

Source

Identifiers

PMID: 41528494
DOI: 10.1007/s10072-025-08771-x

Genes

COQ4
ASL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical, genetic, and advanced neuroimaging features in adult siblings with Q10 deficiency due to COQ4 mutation: Review of literature.PMID 41528494Read ↗

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.Semantic proximity Read ↗

Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.Semantic proximity Read ↗

Clinical spectrum in multiple families with primary COQ10 deficiency.Semantic proximity Read ↗

Primary coenzyme Q10 deficiency due to COQ8A gene mutations.Semantic proximity Read ↗

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.Semantic proximity Read ↗

Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A>G patientsSemantic proximity Read ↗

Christianson syndrome: spectrum of neuroimaging findings.Semantic proximity Read ↗

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.Semantic proximity Read ↗

A Novel Coq8a Mutation in a Case with Juvenile Onset Coq10d4: Case Report and Literature ReviewSemantic proximity Read ↗

Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia.Semantic proximity Read ↗

Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.Semantic proximity Read ↗

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.Semantic proximity Read ↗

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