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

Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.

Journal of neurogenetics - 1 Jan 2000

Jeridi Cyrine, Rachdi Amine, Nabli Fatma, Saied Zacharia, Zouari Rania, Ben Mohamed Dina, Ben Said Mariem, Masmoudi Saber, Ben Sassi Samia, Amouri Rim

Abstract excerpt

Autosomal recessive cerebellar ataxias (ARCA) constitute a highly heterogeneous group of progressive neurodegenerative disorders that typically occur prior to adulthood. Despite some clinical resemblance between these disorders, different genes are involved. We report in this study four Tunisian patients belonging to the same large consanguineous family, sharing autosomal recessive cerebellar ataxia phenotypes...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Cerebellar Ataxia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Consanguinity

Share to DNA Helicases

Share to Genetic Heterogeneity

Share to Multifunctional Enzymes

Share to RNA Helicases

Share to Tissue Plasminogen Activator

Source

Identifiers

PMID: 38109176
DOI: 10.1080/01677063.2023.2281916

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.PMID 38109176Read ↗

Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family.Semantic proximity Read ↗

Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families.Semantic proximity Read ↗

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Semantic proximity Read ↗

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.Semantic proximity Read ↗

SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2.Semantic proximity Read ↗

[Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology].Semantic proximity Read ↗

Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis.Semantic proximity Read ↗

Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.Semantic proximity Read ↗

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.Semantic proximity Read ↗

Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.Semantic proximity Read ↗

Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1linked to the SCA2 locusSemantic proximity Read ↗

Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.Semantic proximity Read ↗

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