Neuroacanthocytosis
نویسندگان
چکیده
منابع مشابه
Neuroacanthocytosis
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...
متن کاملNeuroacanthocytosis 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...
متن کاملCerebellar atrophy in neuroacanthocytosis.
To cite: Sharma C, Nath K, Acharya M, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014205232 DESCRIPTION We present the case of a 25-year-old man who had progressive generalised choreoathetosis, orofacial dyskinesia, feeding dystonia ( jaw closure dystonia), lip biting and cervical dystonia (retrocollis) for the past 2 years. Over the past 6 months he h...
متن کاملNeuroacanthocytosis : a Case Report
An adult male with severe tic disorder presented with recurrent injury to tongue and dysphagia. There were a significant excess of acanthocytes in the peripheral blood smear. Treatment with lithium resulted in a considerable reduction in the severity of tics and self-injurious behaviour.
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2005
ISSN: 0007-1048,1365-2141
DOI: 10.1111/j.1365-2141.2005.05644.x