Abnormal Red Cell Structure and Function in Neuroacanthocytosis
نویسندگان
چکیده
منابع مشابه
Abnormal Red Cell Structure and Function in Neuroacanthocytosis
BACKGROUND Panthothenate kinase-associated neurodegeneration (PKAN) belongs to a group of hereditary neurodegenerative disorders known as neuroacanthocytosis (NA). This genetically heterogeneous group of diseases is characterized by degeneration of neurons in the basal ganglia and by the presence of deformed red blood cells with thorny protrusions, acanthocytes, in the circulation. OBJECTIVE ...
متن کاملAbnormal red cell features associated with hereditary neurodegenerative disorders: the neuroacanthocytosis syndromes.
PURPOSE OF REVIEW This review discusses the mechanisms involved in the generation of thorny red blood cells (RBCs), known as acanthocytes, in patients with neuroacanthocytosis, a heterogenous group of neurodegenerative hereditary disorders that include chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS). RECENT FINDINGS Although molecular defects associated with neuroacanthocytosis have be...
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Spasmodic dysphonia (SD) is a primary focal dystonia characterized by involuntary spasms in the laryngeal muscles during speech production. Although recent studies have found abnormal brain function and white matter organization in SD, the extent of gray matter alterations, their structure-function relationships, and correlations with symptoms remain unknown. We compared gray matter volume (GMV...
متن کاملNeuroacanthocytosis
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...
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The red cell in man is a biconcave disk, some 8.4/z in diameter, 2.4 # thick at its widest portion, and 1/z thick at its narrowest. I t is bounded by a membrane primarily composed of protein and lipid, the latter sufficient in amount to cover the red cell with a layer two molecules thick. The lipid layer is bounded on the outside, and possibly on the inside, by a layer of protein. The thickness...
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ژورنال
عنوان ژورنال: PLOS ONE
سال: 2015
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0125580