SciELO - Scientific Electronic Library Online

vol.37 issue3Neurophysiologic characterization of small fiber function in heterozigous women with Fabry diseaseTransient ischemic attack due to iatrogenic air embolism secondary to intracavernous injections during an urologic procedure author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links

  • On index processCited by Google
  • Have no similar articlesSimilars in SciELO
  • On index processSimilars in Google


Acta Neurológica Colombiana

Print version ISSN 0120-8748On-line version ISSN 2422-4022


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 Oct 22, 2021. ISSN 0120-8748.

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.

Keywords : Genetic loci; Genetics; Parkinsonian disorders; Parkinson disease (MeSH).

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )