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Kufor-Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report
Rebeca Méndez-Veras1, Allan Urbizo1, Julio Cabrera2
1Instituto de Investigaciones Químicas, Biológicas, Biomédicas y Biofísicas (I2QB3), Universidad Mariano Gálvez, Guatemala City, Guatemala.
Case Reports in Genetics
|November 27, 2025
Summary
Kufor-Rakeb syndrome (KRS), a rare genetic form of Parkinson's disease, was identified in a Guatemalan patient. Genetic testing confirmed a pathogenic variant in the ATP13A2 gene, highlighting the need for broader diagnostic awareness.
Area of Science:
- Genetics
- Neurology
- Rare Diseases
Background:
- Parkinson's disease (PD) is a neurodegenerative disorder with diverse causes.
- Juvenile-onset PD, though rare, can stem from genetic mutations.
- Kufor-Rakeb syndrome (KRS) is an autosomal-recessive early-onset parkinsonism linked to ATP13A2 (PARK9) gene variants.
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