A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil

Deborah Moreira Rangel, Paulo Ribeiro Nóbrega, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Pedro Braga-Neto, Parkinsonism & Related Disorders, 2018, ISSN 1353-8020, doi:10.1016/j.parkreldis.2018.10.027.

A total of 47 patients had ataxia as the main symptom. A high prevalence of consanguinity was found in the population studied (40.4%); The most prevalent diseases were: Friedreich's ataxia in 35% (n = 7), Niemann-Pick type C (NPC) in 15% (n = 3), and ataxia with oculomotor apraxia type 2 in 15% (n = 3).
In contrast with other studies, our prevalence of recessive ataxias was much higher than that of dominant ataxias. These findings might be explained by the high number of patients living in rural areas with a higher rate of consanguineous marriages, absence of a dominant ataxia founder effect or difficult access to healthcare system.

A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil