Autosomal Recessive Ataxias in Northeast Brazil: A Regional Multicenter Case Series

Camelo-Filho, A.E., da Rosa, R.F., Lima, P.L.G.S.B. et al. Autosomal Recessive Ataxias in Northeast Brazil: A Regional Multicenter Case Series. Cerebellum 24, 59 (2025). Doi:10.1007/s12311-025-01814-1

Patients underwent clinical evaluations, including neurological examinations and functional assessments. Results: Friedreich’s ataxia (FRDA) was the most prevalent diagnosis, accounting for 12 cases (21%), followed by Ataxia-Telangiectasia (A-T) with (N = 9; 15.8%) and Niemann-Pick Disease Type C (NPC) (N = 9; 15.8%). Metabolic disorders, including Cerebrotendinous Xanthomatosis (N = 6;10.5%) were also common causes.

Autosomal Recessive Ataxias in Northeast Brazil: A Regional Multicenter Case Series