Walker Ruth H, Jung Hans H, Danek Adrian
Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx and Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA.
Handb Clin Neurol. 2011;100:141-51. doi: 10.1016/B978-0-444-52014-2.00007-0.
The term "neuroacanthocytosis" describes a heterogeneous group of molecularly-defined disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. The clinical presentation of neuroacanthocytosis syndromes typically involves chorea and dystonia, but a range of other movement disorders may be seen. Psychiatric and cognitive symptoms may be prominent. There can be considerable phenotypic overlap; however, features of inheritance, age of onset, neuroimaging and laboratory findings, in addition to the spectrum of central and peripheral neurological abnormalities and extraneuronal involvement, can help to distinguish the specific syndromes. The two core neuroacanthocytosis syndromes, in which acanthocytosis is a typical, although not invariable finding, 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. Additionally, acanthocytosis has been reported in a few patients with other neurological disorders. The causative genes do not appear to be linked by a specific function or pathway, although abnormalities of membrane processing may be implicated. The connection between the erythrocyte membrane abnormality, which results in the characteristic "thorny" protrusions, the vulnerability of the basal ganglia, and the respective genetic mutations, is obscure.
“神经棘红细胞增多症”一词描述了一组分子定义的异质性疾病，这些疾病会导致进行性神经退行性变，主要累及基底神经节，并伴有红细胞棘红细胞增多症。神经棘红细胞增多症综合征的临床表现通常包括舞蹈症和肌张力障碍，但也可能出现一系列其他运动障碍。精神和认知症状可能较为突出。可能存在相当大的表型重叠；然而，除了中枢和外周神经异常及神经外受累的范围外，遗传特征、发病年龄、神经影像学和实验室检查结果有助于区分特定的综合征。两种核心神经棘红细胞增多症综合征，棘红细胞增多症是其典型表现（尽管并非总是如此），分别是常染色体隐性遗传性舞蹈病-棘红细胞增多症和X连锁的麦克劳德综合征。在较小比例的亨廷顿病样2型和泛酸激酶相关神经退行性变患者中也发现了棘红细胞。此外，在少数其他神经系统疾病患者中也报告了棘红细胞增多症。尽管可能涉及膜加工异常，但致病基因似乎没有通过特定功能或途径联系起来。导致特征性“棘状”突起的红细胞膜异常、基底神经节的易损性与各自基因突变之间的联系尚不清楚。
