What Are the Clinical Symptoms Associated with Friedreich Ataxia?

Discussion Friedreich ataxia (FRDA) was first extensively described in a series of papers from 1863-1877 by Nikolaus Friedreich at the University of Heidelberg, Germany. In 1996 the genetic mutation was described. It is an autosomal recessively inherited, homologous expansion of the GAA repeat in intron 1 of the frataxin gene on chromosome 9q13. It causes a transcription error leading to a decrease in frataxin which is a mitochondrial protein involved in iron metabolism and other cell functions. Frataxin is seen mainly in the central and peripheral nervous systems, heart, pancreas and skeleton. Frataxin is produced but in decreased amounts, and lack of frataxin causes in-utero lethality of the embryo. FRDA is the most common cause of autosomal recessive ataxia. Point estimates are up to prevalence 3/100,000 and it is estimated that ~9000 patients in the United States with FRDA at any given time. Age of onset is in early teens with a mean of ~15 years with most cases developing by 25 years, although genetic testing has allowed more adult patients to be identified. FRDA is unfortunately progressive and patients’ have a decreased lifespan at 40 years (+/- 20 years). There is a correlation with the number of repeats with an increased number having increased disease severity. There is no generational anticipation where subsequent generations have increased severity or onset at earlier ages. Unfortunately, FRDA is progressive and many treatments help to support the patients...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news