Neuroacanthocytisis from Iran- Report of Molecular and Clinical findings

Neuroacanthocytosis (NA) syndromes are a group of genetically defined disorders leading to progressiveneurodegeneration of the basal ganglia and thorny appearance of erythrocytes. NA can be divided into twogroups:1)Core neuroacanthocytosis syndromes:Chorea-acanthocytosis (ChAc)McLeod syndrome (MLS)Huntington’s disease-like 2 (HDL2)Pantothenate kinase associatedneurodegeneration (PKAN; including HARP subtype)2)Neuroacanthocytosis with lipoprotein disorders:AbetalipoproteinemiaFamilial hypobetalipoproteinaemiaAnderson diseaseAtypical Wolman diseaseWe will discuss about clinical and molecular findings in two PKAN cases (with novel mutations), one HDL2,one ChAc and one Abetalipoproteinemia case (with novel mutation) in 5 unrelated family from Iranian descent.