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

Unexpectedly mild phenotype in an ataxic family with a two-base deletion in the APTX gene.

Journal of the neurological sciences - 15 Jul 2017

Hirano Makito, Matsumura Ryusuke, Nakamura Yusaku, Saigoh Kazumasa, Sakamoto Hikaru, Ueno Shuichi, Inoue Hiroya, Kusunoki Susumu

Abstract excerpt

INTRODUCTION: Early onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia 1 (AOA1) is an autosomal recessive disorder caused by mutations in the APTX gene. In contrast to the recent progress on the molecular mechanism of aprataxin in DNA repair, the genotype and phenotype correlation has not been fully established. A previous study demonstrated that patients with...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Cells, Cultured

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Fatal Outcome

Share to Frameshift Mutation

Share to Nuclear Proteins

Share to Protein Isoforms

Share to Sequence Deletion

Source

Identifiers

PMID: 28566184
DOI: 10.1016/j.jns.2017.04.049

Genes

APTX

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

Unexpectedly mild phenotype in an ataxic family with a two-base deletion in the APTX gene.PMID 28566184Read ↗

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

Aprataxin mutations are a rare cause of early onset ataxia in Germany.Semantic proximity Read ↗

A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.Semantic proximity Read ↗

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.Semantic proximity Read ↗

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.Semantic proximity Read ↗

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.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 ↗

Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.Semantic proximity Read ↗

Aprataxin (APTX) gene mutations resembling multiple system atrophy.Semantic proximity Read ↗

Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.Semantic proximity Read ↗

A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia.Semantic proximity Read ↗

DNA single-strand break repair is impaired in aprataxin-related ataxia.Semantic proximity Read ↗

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