Genomic coordinate 9:69,035,752
Here I present: “Friedreich Ataxia“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (FXN) 弗里德賴希共濟失調。 icd10=G11.11
INTRODUCTION.
Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty. Friedreich ataxia is one of the most common forms of autosomal recessive ataxia occurring. Other variable features include visual defects, scoliosis, pes cavus, and cardiomyopathy.
Frataxin is a nuclear-encoded mitochondrial iron-chaperone involved in iron-sulfur biogenesis and heme biosynthesis. Some studies have also suggested that frataxin functions as an iron storage molecule, an antioxidant.
There is evidence that Friedreich ataxia is caused by mutation of the frataxin (FXN) gene encoded on cytogenetic location 9q21.11 and genomic coordinate 9:69,035,752.
