Oneliner_451

OneLiner

Freidreich ataxia – ARD; mutation of frataxin (FXN) gene. Increased # of trinucleotide repeats (GAA) -> decreased FXN expression -> decreased mitochondrial energy production -> oxidative stress -> degeneration of spinocerebellar & lateral corticospinal tract (ataxia); dorsal columns and root (loss of position and vibration); kyphoscoliosis and foot abnormalities (pes cavus); hypertrophic cardiomyopathy/CCF; DM in about 10% of patients.