Friedreich ataxia is considered a neurodegenerative disorder involving both the peripheral and central nervous systems. Dorsal root ganglia (DRG) are the major target tissue structures. This neuropathy is caused by mutations in the FXN gene that encodes frataxin.
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Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism
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- Category: Scientific News
Cross-sectional analysis of glucose metabolism in Friedreich Ataxia
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- Category: Funded Research
OBJECTIVES:
To evaluate the relationship between disease features in Friedreich ataxia and aberrant glucose metabolism.
METHODS:
Fasting glucose, fasting insulin and random HbA1C were obtained in 158 patients with Friedreich ataxia. Regression analysis evaluated glucose, insulin, and homeostatic model assessment (HOMA) of insulin resistance (IR) and beta-cell function (ß) in relation to age, BMI, sex, and genetic severity. Categorical glucose values were analyzed in relation to other FRDA-associated disease characteristics.
Read More: Cross-sectional analysis of glucose metabolism in Friedreich Ataxia
Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis
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- Category: Scientific News
BACKGROUND:
Compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the FXN gene is a rare cause of Friedreich ataxia (FRDA).
METHODS:
We identified three Swedish FRDA patients with an FXN p.R165P missense mutation and compared their clinical features with six homozygote trinucleotide repeat expansion carriers. Patients were assessed clinically. Trinucleotide expansion length was determined and lymphocyte frataxin levels measured.
Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis
Nicotinamide in Friedreich's ataxia: useful or not?
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- Category: Scientific News
Friedreich’s ataxia is an autosomal recessive neurodegenerative disorder caused by mutations in the frataxin gene (FXN), leading to progressive ataxia, cardiomyopathy, scoliosis, and various other clinical features. Most patients have GAA repeat expansions in intron 1 of FXN, leading to decreased concentrations of frataxin protein and downstream mitochondrial dysfunction. The GAA repeats lead to gene silencing through heterochromatin formation, and decreased transcription of FXN mRNA.
Read More: Nicotinamide in Friedreich's ataxia: useful or not?
Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study
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- Category: Scientific News
BACKGROUND:
Friedreich's ataxia is a progressive degenerative disorder caused by deficiency of the frataxin protein. Expanded GAA repeats within intron 1 of the frataxin (FXN) gene lead to its heterochromatinisation and transcriptional silencing. Preclinical studies have shown that the histone deacetylase inhibitor nicotinamide (vitamin B3) can remodel the pathological heterochromatin and upregulate expression of FXN. We aimed to assess the epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia.
- R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome
- Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia
- Pathophysiogical and therapeutic progress in Friedreich ataxia
- Cell and gene therapy for Friedreich ataxia - progress to date
- Saccade reprogramming in Friedreich ataxia reveals impairments in the cognitive control of saccadic eye movement
