Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.

Introduction: Knowledge about the distribution and frequency of the respective haplotypes on the wildtype and mutant allele is highly relevant in the context of future gene therapy clinical studies in Spinocerebellar Ataxia Type 3, the most common autosomal dominantly inherited ataxia. Single nucleotide polymorphisms associated to the disease-causing gene, ATXN3, have been determined. We wanted to investigate the frequency and regional distribution of two intragenic single nucleotide polymorphisms (SNPs) in a large European SCA3 cohort and their relation to the clinical phenotype.

Altered calcium responses and antioxidant properties in Friedreich's ataxia-like cerebellar astrocytes.

Friedreich's ataxia (FRDA) is a neurodegenerative disorder characterized by severe neurological signs, affecting the peripheral and central nervous system, caused by reduced frataxin protein (FXN) levels. While several studies highlight cellular dysfunctions in neurons, there is limited information on the effects of FXN depletion in astrocytes and on the potential non-cell autonomous mechanisms affecting neurons in FRDA. In this study, we generated a model of FRDA cerebellar astrocytes to unveil phenotypic alterations that might contribute to cerebellar atrophy.

Comparison of specialist ataxia centres with non-specialist services in terms of treatment, care, health services resource utilisation and costs in the UK using patient-reported data.

Objectives: This study aims to assess the patient-reported benefits and the costs of coordinated care and multidisciplinary care at specialist ataxia centres (SACs) in the UK compared with care delivered in standard neurological clinics.

Design: A patient survey was distributed between March and May 2019 to patients with ataxia or carers of patients with ataxia through the Charity Ataxia UK's mailing list, website, magazine and social media to gather information about the diagnosis, management of the ataxias in SAC and non-specialist settings, utilisation of various healthcare services and patients' satisfaction. We compared mean resource use for each contact type and health service costs per patient, stratifying patients by whether they were currently attending a SAC or never attended one.

Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia.

Background: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by an expanded GAA repeat in the first intron of the FXN gene.

Objective: The aim of this study was to analyze leukocyte telomeres length (LTL) in FRDA to verify the possible relationships between LTL and disease progression. We investigated LTL in a cohort of FRDA biallelic patients (n = 61), heterozygous (n = 29), and age-matched healthy subjects (n = 87).

Corrigendum: Hearing rehabilitation of adults with auditory processing disorder: a systematic review and meta-analysis of current evidence-based interventions.

[This corrects the article DOI: 10.3389/fnhum.2024.