Frederich's Ataxia (FRDA)
One of the most common inherited neurodegenerative disorder is Frederich’s ataxia (FRDA). This condition was named after the neurologist who was the first to describe it in the early 1860’s, Nickolaus Frederich. Ataxia means the degeneration in the nervous tissue of the spinal cord, in particular the sensory neurones, which aid the movement of the limbs. [1] This disorder is characterised by absence of reflexes, dysarthria (difficult of speech), muscle weakness of he legs, and several other symptoms. [2][3]
FRDA is an autosomal recessive disease with 1 in 50,000 estimate prevalence in individuals. [3] A mutation occurs in a gene called frataxin (FXN) gene, which is located in chromosome 9q13-q21.1, and it encodes 210 amino acid protein, frataxin.
FRDA is an autosomal recessive disease with 1 in 50,000 estimate prevalence in individuals. [3] A mutation occurs in a gene called frataxin (FXN) gene, which is located in chromosome 9q13-q21.1, and it encodes 210 amino acid protein, frataxin.