Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

doi:10.1001/jamaneurol.2017.4373

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

Community

Back to search

Article

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

JAMA neurology - 1 Apr 2018

Renaud Mathilde, Moreira Maria-Céu, Ben Monga Bondo, Rodriguez Diana, Debs Rabab, Charles Perrine, Chaouch Malika, Ferrat Farida, Laurencin Chloé, Vercueil Laurent, Mallaret Martial, M'Zahem Abderrahim, Pacha Lamia Ali, Tazir Meriem, Tilikete Caroline, Ollagnon Elisabeth, Ochsner François, Kuntzer Thierry, Jung Hans H, Beis Jean-Marie, Netter Jean-Claude, Djamshidian Atbin, Bower Mattew, Bottani Armand, Walsh Richard, Murphy Sinead, Reiley Thomas, Bieth Éric, Roelens Filip, Poll-The Bwee Tien, Lourenço Charles Marques, Jardim Laura Bannach, Straussberg Rachel, Landrieu Pierre, Roze Emmanuel, Thobois Stéphane, Pouget Jean, Guissart Claire, Goizet Cyril, Dürr Alexandra, Tranchant Christine, Koenig Michel, Anheim Mathieu

Abstract excerpt

Importance: Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia due to mutations in the aprataxin gene (APTX) that is characterized by early-onset cerebellar ataxia, oculomotor apraxia, axonal motor neuropathy, and eventual decrease of albumin serum levels. Objectives: To improve the clinical, biomarker, and molecular delineation of AOA1 and provide genotype-phenotype...

Read the complete abstract on PubMed

Topics

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to alpha-Fetoproteins

Share to Apraxias

Share to Ataxia

Share to Disability Evaluation

Share to Genetic Association Studies

Share to International Cooperation

Share to Nuclear Proteins

Share to TRPC Cation Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 29356829
DOI: 10.1001/jamaneurol.2017.4373
PMCID: PMC5933354

Genes

AFP
APTX

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

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.PMID 29356829Read ↗

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.Semantic proximity Read ↗

A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.Semantic proximity Read ↗

Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.Semantic proximity Read ↗

Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian SiblingsSemantic proximity Read ↗

New autosomal recessive cerebellar ataxias with oculomotor apraxia.Semantic proximity Read ↗

[Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia].Semantic proximity Read ↗

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

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.Semantic proximity Read ↗

Genetic ataxias: update on classification and diagnostic approaches.Semantic proximity Read ↗

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.Semantic proximity Read ↗

Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families.Semantic proximity Read ↗

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