Article
Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.
American journal of medical genetics. Part A - 1 Feb 2025
Quinlan Aisling, Rodan Lance, Barkoudah Elizabeth, Tam Amy, Saffari Afshin, Shammas Ibrahim, Ranatunga Wasantha, Morava-Kozicz Eva, Oglesbee Devin, Berry Gerald, Ebrahimi-Fakhari Darius, Srivastava Siddharth
Abstract excerpt
Frataxin is an evolutionarily conserved mitochondrial protein responsible for iron homeostasis and metabolism. A deficiency of frataxin (encoded by FXN) leads to Friedreich's ataxia (FRDA), a progressive disorder that affects both the central and peripheral nervous systems, most commonly via a pathogenic GAA trinucleotide expansion. In contrast, pathogenic variants in ALG1 in humans cause a form of congenital...
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