Neuroacanthocytosis: A new mutation
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: new developments in a neglected group of dementing disorders.
Neurological abnormalities associated with spiculated, "acanthocytic" red cells in blood have been summarized as neuroacanthocytosis. This is a heterogeneous group of conditions that can now be clearly subdivided on the basis of genetic discoveries. The core neuroacanthocytosis syndromes are autosomal recessive chorea-acanthocytosis (ChAc) and the X-linked McLeod syndrome (MLS). Huntington's di...
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.
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 کاملNeuroacanthocytosis Syndromes – A Current Overview
Neuroacanthocytosis syndromes are characterized by the presence of “thorny” red blood cells and neurodegeneration of the basal ganglia, along with peripheral neuromuscular findings, seizures, and a variety of neuropsychiatric features. In recent years significant progress has been made in understanding the molecular pathophysiology of these disorders; cases are now identified as autosomal reces...
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ژورنال
عنوان ژورنال: Neurología (English Edition)
سال: 2017
ISSN: 2173-5808
DOI: 10.1016/j.nrleng.2015.06.014