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Ampliación del espectro fenotípico y radiológico de la neurodegeneración asociada a PLA2G6

Savi Setia1, Aakash Mahesan2, Puneet Kumar Chaudhary3

  • 1Department of Pediatrics, Child Neurology Division, All India Institute of Medical Sciences, Bathinda, Punjab, India.

Indian journal of pediatrics
|February 19, 2026
PubMed
Resumen

No abstract available in PubMed .

Palabras clave:
Neurodegeneración asociada a PLA2G6Distrofia neuroaxonal atípicaDistonía-parkinsonismoDistrofia neuroaxonal infantilNeurodegeneración con acumulación de hierro cerebral

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Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
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