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

Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.

Journal of the neurological sciences - 15 Jun 2002

Benomar Ali, Yahyaoui Mohammed, Meggouh Farid, Bouhouche Ahmed, Boutchich Mohammed, Bouslam Naima, Zaim Abdelhaq, Schmitt Michèle, Belaidi Halima, Ouazzani Reda, Chkili Taïb, Koenig Michel

Abstract excerpt

Fifteen Moroccan families with a phenotype resembling Friedreich Ataxia (FA) were studied. Seven families (13 patients) had the 744 del A mutation in the alpha-tocopherol transfer protein (alpha-TTP) gene, characteristic of ataxia with vitamin E deficiency (AVED). The other eight families (16 patients) had GAA expansions in the first intron of the frataxin gene. The clinical differences between the two groups...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Disease Progression

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

Share to Frataxin

Share to Friedreich Ataxia

Share to Iron-Binding Proteins

Share to Morocco

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 12039660
DOI: 10.1016/s0022-510x(02)00057-6

Genes

GAA

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

Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.PMID 12039660Read ↗

Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients.Semantic proximity Read ↗

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.Semantic proximity Read ↗

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.Semantic proximity Read ↗

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.Semantic proximity Read ↗

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

Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.Semantic proximity Read ↗

Ataxia caused by mutations in the alpha-tocopherol transfer protein gene.Semantic proximity Read ↗

Clinical and Genetic Study of Ataxia With Vitamin E DeficiencySemantic proximity Read ↗

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.Semantic proximity Read ↗

Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin E deficiency with a novel c.717 del C mutation in the TTPA geneSemantic proximity Read ↗

A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation.Semantic proximity Read ↗

MNV-aware molecular characterization of a rare homozygous TTPA complex allele in ataxia with vitamin E deficiency.Semantic proximity Read ↗

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