Observational analysis reveals varied responses to GPi deep brain stimulation in PKAN families, suggesting genetic factors influence outcomes.
Background/Purpose: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, autosomal recessive neurodegenerative disorder caused by mutations in the PANK2 gene. It is characterized by progressive movement disorders—most commonly dystonia and choreoathetosis. Classic PKAN typically presents in the first decade with rapid progression, whereas atypical forms have a later onset and a slower disease course.
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