A Family with Late‐Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas
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DOI: 10.1002/mdc3.12920
Abstract: Niemman Pick type C (NPC) is a treatable neurodegenerative lysosomal disorder characterized by the widespread age of onset and clinical presentation. The adult NPC phenotype frequently includes ataxia, supranuclear gaze palsy, and cognitive and behavioral… read more here.
Keywords: late onset; pick type; choreic; family late ... See more keywords