The acanthocyte-echinocyte differential: The example of chorea-acanthocytosis.
نویسنده
چکیده
Acanthocytes are a distinct structural (and functional) entity compared to echinocytes. The differential, however, is not always clear. A summary of morphologic characteristic to make a clear distinction is provided, using the blood of a rare neurologic disease with acanthocytic transformation of red blood cells.
منابع مشابه
Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). Pantothenate kinases catalyze the rate-limiting step of coenzyme A synthesis and Pank2 is the only pantothenate kinase isoform in humans that is localized to mitochondria. Acanthocytosis, the occurrence of...
متن کاملThe acanthocyte-echinocyte differential
Acanthocytes are a distinct structural (and functional) entity compared to echinocytes. The differential, however, is not always clear. A summary of morphologic characteristics to make a clear distinction is provided, using the blood of a rare neurologic disease with acanthocytic transformation of red blood cells.
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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 کاملChorea-acanthocytosis: report of three cases from Iran.
Chorea-acanthocythosis (ChAc) is an inherited neurodegenerative disorder characterized by movement disorders, neuropsychiatric disturbances, neuropathy, myopathy, seizures and acanthocytosis accompanied by an elevated serum creatine kinase (CK) level. Its causative gene (VPS13A) produces chorein which is absent in ChAc patients as evaluated by Western blot assay. We report the first three Irani...
متن کاملAlterations of Red Cell Membrane Properties in Nneuroacanthocytosis
Neuroacanthocytosis (NA) refers to a group of heterogenous, rare genetic disorders, namely chorea acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL2) and pantothenate kinase associated neurodegeneration (PKAN), that mainly affect the basal ganglia and are associated with similar neurological symptoms. PKAN is also assigned to a group of rare neurodegenerative diseas...
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عنوان ژورنال:
- Swiss medical weekly
دوره 140 شماره
صفحات -
تاریخ انتشار 2010