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

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.

BMC neurology - 3 Aug 2020

Aryan Hajar, Razmara Ehsan, Farhud Dariush, Zarif-Yeganeh Marjan, Zokaei Shaghayegh, Hassani Seyed Abbas, Ashrafi Mahmoud Reza, Garshasbi Masoud, Tavasoli Ali Reza

Abstract excerpt

BACKGROUND: Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive disorder caused by defects in the ADP-Ribosylhydrolase Like 2 (ADPRHL2; OMIM: 618170) gene. This gene encodes the ADP-ribosylhydrolase enzyme (ARH3) that eliminates the addition of poly-ADP ribose (PAR) in the cellular stress onto proteins in the ADP-ribosylation process in which...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellar Ataxia
Share to Cerebellar Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Glycoside Hydrolases

Share to Muscle Hypotonia

Share to Neurodegenerative Diseases

Share to Seizures

Source

Open in PubMed Open full text

Identifiers

PMID: 32746785
DOI: 10.1186/s12883-020-01873-3
PMCID: PMC7397971

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

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.PMID 32746785Read ↗

Child-Onset Cerebellar Ataxia Caused by Two Compound Heterozygous Variants in ADPRS Gene: A Case ReportSemantic proximity Read ↗

Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2Semantic proximity Read ↗

An ADPRS variant disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure.Semantic proximity Read ↗

Stress-Induced Childhood-Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Can Include Severe Primary HypogonadismSemantic proximity Read ↗

A novel variant in <i>ADPRS</i> disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failureSemantic proximity Read ↗

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeSemantic proximity Read ↗

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response.Semantic proximity Read ↗

Exploring Potential Minocycline–ARH3 Interactions in <i>ADPRHL2</i> -Associated CONDSIAS: A Translational Clinical and Computational StudySemantic proximity Read ↗

Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3).Semantic proximity Read ↗

Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature.Semantic proximity Read ↗

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.Semantic proximity Read ↗

Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.Semantic proximity Read ↗

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