Proceedings of the Ninth International Meeting on Neuroacanthocytosis Syndromes
نویسندگان
چکیده
منابع مشابه
Neuroacanthocytosis Syndromes
Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis...
متن کاملManagement of Neuroacanthocytosis Syndromes
BACKGROUND The two core neuroacanthocytosis (NA) syndromes, chorea-acanthocytosis (ChAc) and McLeod syndrome, are progressive neurodegenerative disorders that primarily affect the basal ganglia. The characteristic phenotype comprises a variety of movement disorders including chorea, dystonia, and parkinsonism, as well as psychiatric and cognitive symptoms attributable to basal ganglia dysfuncti...
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ژورنال
عنوان ژورنال: Tremor and Other Hyperkinetic Movements
سال: 2018
ISSN: 2160-8288
DOI: 10.5334/tohm.425