The neuropsychiatry of 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...
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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10.4172/Neuropsychiatry.1000110 © 2016 pISSN 1758-2008 eISSN 1758-2016 Neuropsychiatry (London) (2016) 6(1), 08–09 8 1Department of Psychiatry, Chinese University of Hong Kong, Hong Kong SAR, China 2School of Psychiatry & Clinical Neurosciences, University of Western Australia, Perth, Australia 3University of Notre Dame Australia/Marian Centre, Perth, Australia 4CUHK Shenzhen Research Institute...
متن کاملUntangling 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...
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ژورنال
عنوان ژورنال: Neuroscience & Biobehavioral Reviews
سال: 2011
ISSN: 0149-7634
DOI: 10.1016/j.neubiorev.2011.01.001