Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/
compound heterozygous mutations in FXN. This gene encodes frataxin, a protein largely …

Neurodegenerative diseases are a major global health burden particularly with the
increasing ageing population. Hereditary predisposition and environmental risk factors …

Objective Friedreich ataxia (FA) is a progressive genetic neurodegenerative disorder with no
approved treatment. Omaveloxolone, an Nrf2 activator, improves mitochondrial function …

The cerebellum is a key player in many brain functions and a major topic of neuroscience
research. However, the cerebellar nuclei (CN), the main output structures of the cerebellum …

Autosomal-recessive cerebellar ataxias (ARCAs) comprise a heterogeneous group of rare
degenerative and metabolic genetic diseases that share the hallmark of progressive …

A repeat expansion in C9orf72 is responsible for the characteristic neurodegeneration in
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved …

Friedreich's ataxia (FRDA) is a devastating, multisystemic disorder caused by recessive
mutations in the mitochondrial protein frataxin (FXN). FXN participates in the biosynthesis of …

Friedreich ataxia (FA) is a rare mitochondrial disease characterized by sensory and
spinocerebellar ataxia, hypertrophic cardiomyopathy, and diabetes, for which there is no …

Friedreich's ataxia (FRDA) is a rare early-onset degenerative disease that affects both the
central and peripheral nervous systems, and other extraneural tissues, mainly the heart and …

Friedreich ataxia (FA) is currently an incurable inherited mitochondrial disease caused by
reduced levels of frataxin (FXN). Cardiac dysfunction is the main cause of premature death …