Neuroacanthocytosis (NA) denotes a heterogeneous group of diseases that are characterized by nervous system abnormalities in association with acanthocytosis in the patients' blood. The 4.1R protein of the erythrocyte membrane is critical for the membrane-associated cytoskeleton structure and in central neurons it regulates the stabilization of AMPA receptors on the neuronal surface at the postsynaptic density. We report clinical, biochemical, and genetic features in four patients from four unrelated families with NA in order to explain the cause of morphological abnormalities and the relationship with neurodegenerative processes.
Orlacchio, A., Calabresi, P., Rum, A., Tarzia, A., Salvati, A., Kawarai, T., et al. (2007). Neuroacanthocytosis associated with a defect of the 4.1R membrane protein. BMC NEUROLOGY, 7(4), 1-8 [10.1186/1471-2377-7-4].
Neuroacanthocytosis associated with a defect of the 4.1R membrane protein
ORLACCHIO, ANTONIO;CALABRESI, PAOLO;STEFANI, ALESSANDRO;PISANI, ANTONIO;BERNARDI, GIORGIO;
2007-02-01
Abstract
Neuroacanthocytosis (NA) denotes a heterogeneous group of diseases that are characterized by nervous system abnormalities in association with acanthocytosis in the patients' blood. The 4.1R protein of the erythrocyte membrane is critical for the membrane-associated cytoskeleton structure and in central neurons it regulates the stabilization of AMPA receptors on the neuronal surface at the postsynaptic density. We report clinical, biochemical, and genetic features in four patients from four unrelated families with NA in order to explain the cause of morphological abnormalities and the relationship with neurodegenerative processes.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
