Friedreich's ataxia: pathology, pathogenesis, and molecular genetics
AH Koeppen - Journal of the neurological sciences, 2011 - Elsevier
The pathogenic mutation in Friedreich's ataxia (FRDA) is a homozygous guanine-adenine-
adenine (GAA) trinucleotide repeat expansion on chromosome 9q13 that causes a
transcriptional defect of the frataxin gene. Deficiency of frataxin, a small mitochondrial
protein, is responsible for all clinical and morphological manifestations of FRDA. This
autosomal recessive disease affects central and peripheral nervous systems, heart,
skeleton, and endocrine pancreas. Long expansions lead to early onset, severe clinical …
adenine (GAA) trinucleotide repeat expansion on chromosome 9q13 that causes a
transcriptional defect of the frataxin gene. Deficiency of frataxin, a small mitochondrial
protein, is responsible for all clinical and morphological manifestations of FRDA. This
autosomal recessive disease affects central and peripheral nervous systems, heart,
skeleton, and endocrine pancreas. Long expansions lead to early onset, severe clinical …