Resumo

ROJAS CASTILLO, Juan Carlos et al. Genetic Parkinson disease: a case report and literature review. Acta Neurol Colomb. [online]. 2021, vol.37, n.3, pp.133-138.  Epub 22-Out-2021. ISSN 0120-8748.  https://doi.org/10.22379/24224022379.

Parkinsonism constitutes a set of clinical signs and symptoms characterized by bradykinesia and tremor at rest and / or rigidity. The main etiology is Parkinson's disease (PD), but there are other causes such as atypical parkinsonism. The vast majority of PD cases are sporadic, however, there is a minority where the etiology is due to an inherited mutation, either autosomal dominant (AD), autosomal recessive (RA), or X-linked inheritance. Identifying these heritable causes is important for proper genetic counseling and treatment. We present the case of a patient with early-onset PD where an AD mutation in the GIGYF2 gene (PARK11) was identified. We subsequently present a brief review of the literature.

Palavras-chave : Genetic loci; Genetics; Parkinsonian disorders; Parkinson disease (MeSH).

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