Feriante Joshua, Gupta Vikas
University of Utah
Wellness Psychiatry P.C
Neuroacanthocytosis refers to a group of inherited genetic disorders resulting in a combination of misshapen red blood cells (acanthocytes) and progressive neurological decline. The neurological presentation can vary widely among diseases and can include shared characteristic features of movement disorders, neuropathy, psychiatric symptoms, neurocognitive degeneration, and seizures. Specific diseases are many, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington like-disease 2 (HDL2), pantothenate kinase-associated neurodegeneration (PKAN), HARP Syndrome (considered part of the PKAN spectrum consisting of hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), abetalipoproteinemia (ABL), hereditary hypobetalipoproteinemia (HHBL), and aceruloplasminemia. The two core conditions are chorea-acanthocytosis and McLeod Syndrome. Each neuroacanthocytosis disorder is extremely rare, with a prevalence of less than 1 to 3 per 1,000,000 individuals for PKAN or fewer than 100 cases ever reported in the case of ABL.
神经棘红细胞增多症是指一组遗传性疾病，会导致红细胞畸形（棘红细胞）和进行性神经功能衰退。不同疾病的神经学表现差异很大，可能包括运动障碍、神经病变、精神症状、神经认知衰退和癫痫发作等共同特征。具体疾病有很多，包括舞蹈病-棘红细胞增多症（ChAc）、麦克劳德综合征（MLS）、亨廷顿样病2（HDL2）、泛酸激酶相关神经变性（PKAN）、HARP综合征（被认为是PKAN谱系的一部分，包括低前β脂蛋白血症、棘红细胞增多症、色素性视网膜炎和苍白球变性）、无β脂蛋白血症（ABL）、遗传性低β脂蛋白血症（HHBL）和无铜蓝蛋白血症。其中两个核心病症是舞蹈病-棘红细胞增多症和麦克劳德综合征。每种神经棘红细胞增多症疾病都极为罕见，PKAN的患病率低于百万分之一至三，而ABL报告的病例数则少于100例。
