Neuroacanthocytosis

Neuroacanthocytosis

Jesse Russell Ronald Cohn

     

бумажная книга



ISBN: 978-5-5106-4325-1

High Quality Content by WIKIPEDIA articles! Neuroacanthocytosis is a term that refers to a group of genetically diverse conditions complicated by movement disorders, neurological problems and spiculated (misshapen) red blood cells. These syndromes, which include chorea acanthocytosis, McLeod syndrome, Huntington’s disease–like 2 (HDL2), and pantothenate kinase-associated neurodegeneration (PKAN), primarily affect the brain and the basal ganglia. The conditions are caused by genetic mutations of several different genes including, VPS13A, XK, JPH3 and PANK2. The mutations are inherited through various genetic mechanisms.