Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes
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چکیده
منابع مشابه
Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes
There have been significant advances in neuroacanthocytosis (NA) syndromes in the past 20 years, however, confusion still exists regarding the precise nature of these disorders and the correct nomenclature. This article seeks to clarify these issues and to summarise the recent literature in the field. The four key NA syndromes are described here-chorea-acanthocytosis, McLeod syndrome, Huntingto...
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 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: Journal of Movement Disorders
سال: 2015
ISSN: 2005-940X,2093-4939
DOI: 10.14802/jmd.15009