Spinocerebellar ataxia type 7. About a case
Keywords:
Ataxia, Autosomal Dominant Cerebellar Ataxia, Spinocerebellar Ataxia 7, Hereditary AtaxiasAbstract
Introduction: spinocerebellar ataxia type 7 is a neurodegenerative disease of genetic origin with a low prevalence among the population. It is characterized by visual loss associated with the presence of ataxia. Its inheritance is autosomal dominant.
Objective: to describe a family with a clinical and molecular diagnosis of said disease and its distinctive characteristics.
Case presentation: the case presented consisted of a family carrying the mutation for spinocerebellar ataxia type 7. The disease appeared de novo three generations ago and was transmitted to the next generation, affecting one of the three sisters who transmitted the mutated gene to their children two children and one of them, to the offspring.
Conclusions: this case allowed us to observe both the characteristics of the disease, the inheritance pattern, its appearance in adulthood and the progressive progression. It is an example of the importance of thorough clinical analysis in conjunction with genetic testing to achieve a definitive diagnosis.
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