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- W1542006543 abstract "RESUMEN Los sindromes de neurodegeneracion asociada al hierro son una causa secundaria importante de extrapirami-dalismo (1). De aparicion entre los 6 y 40 anos, se asocian ademas a cambios comportamentales y demencia (2). La base fisiopatologica son los depositos de hierro a nivel ganglio basal. De estas enfermedades, la mas frecuente es el deficit de pantotenato quinasa (PKAN por su siglas en ingles), constituyendo mas del 50% de los casos de esta enfermedad. Se han descrito 2 formas de presentacion tipica o temprana, y atipica o tardia2. Se reportan a continuacion dos casos: uno de presentacion tipica y otro de presentacion atipica, diagnosticados en el hospital San Ignacio de Bogota, Colombia.PALABRAS CLAVES. Pantotenato Quinasa, PKAN, Neurodegeneracion, Depositos de Hierro, Extrapiramidalismo (DECS). SUMMARY Neurodegenerations associated with iron deposites are an important secondary cause extrapiramidalism. Their onsets are between 6 and 40 years, and are associated with behavioral changes and dementia. The pathophysio-logical bases are iron deposits at the basal ganglia. Of these diseases, the most frequent is Pantothenate kinase associated neurodegeneration (PKAN by its acronym), which constitutes over 50% of cases of the disease. Two forms of presentation have been described: typical (early onset) and atypical (late onset). We report two cases in the following: one typical and one atypical presentation, both diagnosed in San Ignacio Hospital in Bogota, Colombia.KEY WORDS.Pantothenate Kinase, PKAN, Neurodegeneration, Iron Deposits, Extrapiramidalism (MeSH).." @default.
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- W1542006543 date "2014-04-01" @default.
- W1542006543 modified "2023-09-23" @default.
- W1542006543 title "Typical and atypical presentation pantothenate kinase deficiency: reports of two cases and a review of current literature" @default.
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