Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia

Quinlan, A., Rodan, L., Barkoudah, E., Tam, A., Saffari, A., Shammas, I., Ranatunga, W., Morava-Kozicz, E., Oglesbee, D., Berry, G., Ebrahimi-Fakhari, D. and Srivastava, S. (2024), Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. Am J Med Genet e63890. doi:10.1002/ajmg.a.63890 

 Our findings underscore the importance of considering FRDA as a differential diagnosis in cases of complex HSP and demonstrate the utility of unbiased genome sequencing approaches that include detection of trinucleotide repeat expansions for progressive motor disorders.

Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia