Abstract Introduction Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a rare disorder caused by an autosomal recessive biallelic pentanucleotide repeat expansion in the replication factor C subunit 1 (RFC1) gene. Clinical features include gait disturbances, impaired vibratory sensation, autonomic dysfunction, cough, slow disease progression. Spinocerebellar ataxi...

Abstract Peroxiredoxin 3 (PRDX3) belongs to a superfamily of peroxidases that function as protective antioxidant enzymes. Among the six isoforms (PRDX1–PRDX6), PRDX3 is only protein exclusively localized mitochondria, which are main source reactive oxygen species. Excessive levels species harmful cells, inducing mitochondrial dysfunction, DNA damage, lipid and oxidation ultimately apoptosis. Ne...

IMPORTANCE The core clinical and neuropathological feature of the autosomal dominant spinocerebellar ataxias (SCAs) is cerebellar degeneration. Mutations in the known genes explain only 50% to 60% of SCA cases. To date, no effective treatments exist, and the knowledge of drug-treatable molecular pathways is limited. The examination of overlapping mechanisms and the interpretation of how ataxia ...

Multiple system atrophy (MSA) is a degenerative disease manifesting any combination of parkinsonism, cerebellar, pyramidal, and autonomic (including urinary, sexual and anorectal) dysfunction. It is pathomorphologically defined by a typical distribution of neuron loss and gliosis, as well as by cytoplasmic oligodendroglial inclusions, but lacks a definitive clinical diagnostic test. As it may m...

CASE A 51 year-old man presented to our hospital with nine-years history of progressive gait instability, difficulty walking and insulin dependent diabetes. Family history was unremarkable. On examination, there was ataxic gait, severe limb and trunk ataxia, and dysarthria. He scored 65 in International Cooperative Ataxia Rating Scale (ICARS) and 20 in Scale for Assessment and Rating of Ataxia ...