关键词: 神经再生, 综述, 神经退行性变, 神经棘红细胞增多症, 舞蹈病-棘红细胞增多症, 泛酸激酶相关性神经变性, 类亨廷顿病2型, 无β脂蛋白血症, 麦克劳德综合征, 临床症状, 遗传特征, 锥体外系疾病

Abstract:

Neuroacanthocytosis is an autosomal recessive or dominant inherited disease characterized by widespread, non-specific nervous system symptoms, or spiculated “acanthocytic” red blood cells. The clinical manifestations typically involve chorea and dystonia, or a range of other movement disorders. Psychiatric and cognitive symptoms may also be present. The two core neuroacanthocytosis syndromes, in which acanthocytosis is atypical, are autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome. Acanthocytes are found in a smaller proportion of patients with Huntington’s disease-like 2 and pantothenate kinase-associated neurodegeneration. Because the clinical manifestations are diverse and complicated, in this review we present features of inheritance, age of onset, neuroimaging and laboratory findings, as well as the spectrum of central and peripheral neurological abnormalities and extraneuronal involvement to help distinguish the four specific syndromes.

Key words: neural regeneration, neurodegenerative disease, reviews, neuroacanthocytosis, chorea-acanthocytosis, pantothenate kinase-associated neurodegeneration, Huntington’s disease-like 2, McLeod syndrome, clinical manifestations, features of inheritance, extrapyramidal disease, photographs-containing paper, neuroregeneration