Longitudinal Study of Cognitive Functioning in Friedreich's Ataxia.

Objective: Friedreich's ataxia (FRDA) is the most common hereditary ataxia. It is a neurodegenerative disorder, characterized by progressive ataxia. FRDA is also associated with cognitive impairments.

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.

Objective: To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes.

Methods: We performed an international cross-sectional study on patients with genetically proven POLR3-related leukodystrophy and atypical phenotypes to identify 6 children, 3 males and 3 females, with an extremely severe phenotype compared with that typically reported. Clinical, radiologic, and molecular features were evaluated for all patients, and functional and neuropathologic studies were performed on 1 patient.

Health-related quality of life and depressive symptoms in Friedreich ataxia.

Purpose: Friedreich ataxia (FRDA) is a chronic, progressive and highly disabling cerebellar degenerative disease. Despite this, little attention has been paid to the health-related quality of life (HRQOL) in this disease. The aim of the present study was to assess FRDA patients' perception of HRQOL and to determine the influence of depression, and demographic and clinical variables.

Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene.

Autosomal recessive spinocerebellar ataxia type 10 (SCAR10) caused by a homozygous c.132dupA mutation in the anoctamin 10 gene is infrequent and little is known about its cognitive profile. Three siblings (1 male) with this mutation were assessed with a neuropsychological battery measuring multiple cognitive domains.

The influence of Parkinson's disease on the functional connectivity of the motor loop of human basal ganglia.

Current basal ganglia models integrate information obtained from humans and animals to explain motor disorders in Parkinson's disease. These models explain some motor disturbances of Parkinson's disease (PD), but different clinical observations which remain unexplained have promoted the development of new basal ganglia (BG) models. The present study uses the time-relationship (partial correlation) of the BOLD-signal fluctuations to study the influence of PD on BG interactions of 17 age-matched controls (58.

Depressive symptoms in Friedreich ataxia.

Almost no attention has been paid to depression in Friedreich ataxia (FRDA), a highly disabling cerebellar degenerative disease. Our aim was to study the presence and the profile of depressive symptoms in FRDA and their relationship with demographic-disease variables and cognitive processing speed. The study groups consisted of 57 patients with a diagnosis of FRDA.

External conditions inversely change the RNA polymerase II elongation rate and density in yeast.

Elongation speed is a key parameter in RNA polymerase II (RNA pol II) activity. It affects the transcription rate, while it is conditioned by the physicochemical environment it works in at the same time. For instance, it is well-known that temperature affects the biochemical reactions rates.

A cocoa peptide protects Caenorhabditis elegans from oxidative stress and β-amyloid peptide toxicity.

Background: Cocoa and cocoa-based products contain different compounds with beneficial properties for human health. Polyphenols are the most frequently studied, and display antioxidant properties. Moreover, protein content is a very interesting source of antioxidant bioactive peptides, which can be used therapeutically for the prevention of age-related diseases.

Cognition in late-onset Friedreich ataxia.

Friedreich ataxia (FRDA) is the most common hereditary ataxia. Since the discovery of the genetic cause of this disease, the phenotypic spectrum seems to be wider, including late-onset forms such as late-onset Friedreich ataxia--LOFA (25-39 years at onset). The neuropathological and clinical patterns in patients with LOFA are similar to those in patients with typical FRDA, but LOFA patients tend to have an overall milder, slowly evolving disease.

Caenorhabditis elegans as a model to study the effectiveness and metabolic targets of dietary supplements used for obesity treatment: the specific case of a conjugated linoleic acid mixture (Tonalin).

The antiobesity effect of conjugated linoleic acid (CLA) has previously been described in different animal models. The aim of the present study was to investigate the effect of a commercial mixture (Tonalin) on Caenorhabditis elegans to assess their potential use for functional ingredient screenings. Body-fat reduction with Tonalin was demonstrated in wild-type strain N2.

Cognition in Friedreich ataxia.

Friedreich ataxia (FRDA) is the most frequent of the inherited ataxias. However, very few studies have examined the cognitive status of patients with genetically defined FRDA. Our aim was to study cognitive performance of FRDA patients taking into account the motor problems characteristic of this clinical population.

Use of Saccharomyces cerevisiae and Caenorhabditis elegans as model organisms to study the effect of cocoa polyphenols in the resistance to oxidative stress.

Developing functional foods to improve the quality of life for elderly people has great economic and social impact. Searching for and validating ingredients with in vivo antioxidant effects is one of the key steps in developing this kind of food. Here we describe the combined use of simple biological models and transcriptomics to define the functional intracellular molecular targets of a polyphenol-enriched cocoa powder.

Multilocus analyses reveal involvement of the ESR1, ESR2, and FSHR genes in migraine.

Objective: Female hormone genes have been investigated in migraine in recent years. Research in this field has been controversial, especially in regard to ESR1 gene findings. None of the reports have yet to approach the problem from a multigenic point of view.

Lack of association of endothelial nitric oxide synthase polymorphisms and migraine.

Objective: The aim of this study was to evaluate if 2 functional endothelial nitric oxide synthase (eNOS) gene polymorphisms might be risk factors for migraine.

Background: Nitric oxide synthase promotes the synthesis of nitric oxide (NO). NO is a potent vasodilator and mediates several processes involved in migraine pathophysiology.

SUNCT and trigeminal neuralgia attributed to meningoencephalitis.

We describe a 46-year-old female with viral meningoencephalitis (likely varicella-zoster virus) who developed a SUNCT syndrome followed a few days later by trigeminal neuralgia. Both disorders resolved in parallel with the resolution of encephalitis, which suggests a causal link. In conclusion, headache attributed to intracranial infection may have the clinical features of SUNCT or TN.

Differential impairment in semantic, phonemic, and action fluency performance in Friedreich's ataxia: possible evidence of prefrontal dysfunction.

This study examined phonemic (letters), semantic (animals) and action verbal fluency cues in twenty-four patients with FRDA, and twenty matched healthy control subjects. The Action Fluency Test (AFT) is a newly-developed verbal fluency cue that consists in asking the subject to rapidly generate verbs. Given the high presence of dysarthria and cognitive slowness in FRDA patients, control tasks were administered in order to dissociate motor/articulatory impairment and cognitive slowness from verbal fluency deficit.

Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine.

The objectives of this study were to determine if the HTR2C Cys23Ser polymorphism is associated with migraine in a case-control study, and to perform a meta-analysis with present and previous available studies. The HTR2C gene is located at the Xq24-q28 chromosomal band. This band was linked to migraine with aura (MA) in two Australian families.

The value of diffusion-weighted MRI in the diagnosis of cerebral fat embolism.

Fat embolism syndrome complicates open fractures involving long bones, although it occasionally follows nontraumatic conditions. Incomplete forms of the syndrome (ie, cerebral fat embolism) represent a challenge to diagnosis, and brain MRI represents a valuable diagnostic tool. We describe a patient who had a fat embolism to the brain after an isolated traumatic open fracture of the tibia.

Neuropsychological test performance of patients with Friedreich's ataxia.

Although recognized as one of the most common hereditary diseases of the nervous system, the neuropsychological deficits in Friedreich's ataxia (FA) have rarely been studied. A protocol was constructed to assess the major cognitive areas in patients with FA and pair-matched normal controls. Motor difficulties, dysarthria and fatigability were taken into account.