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[Epilepsy revealing chorea-acanthocytosis: about a case].
Pan Afr Med J
March 2017
Service de Réanimation Médicale, Pôle Anesthésie-Réanimation, Hôpital Militaire Med V, Rabat, Maroc.
Chorea-acanthocytosis (ChAc) is an extremely rare autosomal recessive disorder caused by mutations in the VSP13A gene on chromosome 9q21. It is characterized by neurological symptoms, psychiatric manifestations and multisystem involvement resulting in myopathy, axonal neuropathy and presence of spiculated red blood cells or acanthocytes. Rarely, epilepsy may be the early symptom in these patients.
View Article and Find Full Text PDFFacial cellulitis revealing choreo-acanthocytosis: a case report.
Pan Afr Med J
August 2015
Department of Endocrinology and Internal Medicine, Laboratory of Hematology, Tahar Sfar University Hospital of Mahdia, Mahdia, Tunisia.
We report a 62 year-old-man with facial cellulitis revealing choreo-acanthocytosis (ChAc). He showed chorea that started 20 years ago. The orofacial dyskinisia with tongue and cheek biting resulted in facial cellulitis.
View Article and Find Full Text PDFChoreo-acanthocytosis.
Am J Hematol
August 2013
Department of Haematology, St Mary's Hospital Campus of Imperial College, St Mary's Hospital, Praed Street, London, W2 1NY, UK.
Amyotrophic choreo-acanthocytosis: a neuropathological and immunocytochemical study.
Ital J Neurol Sci
January 1993
Istituto di Scienze Neurologiche e Neurochirurgiche, Università di Messina.
A 47 year old man, one of a sibship affected by amyotrophic choreo-acanthocytosis was studied neuropathologically after some years of clinical observation. Besides the classic optical findings (neuronal loss, astrocytic gliosis and "status spongiosus" in the basal ganglia, namely in the caudate nucleus) a few MEnk+ and NPY+ neurons were observed immunocytochemically in the striatum. In the spinal cord also, while no neuronal loss was perceivable, both mild demyelination and interfibrillary astrocytic hyperplasia of the long tracts were present.
View Article and Find Full Text PDFChoreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus.
Acta Neuropathol
March 1994
Institute for Neurological Sciences, University of Siena, Italy.
Detailed clinical and neuropathological findings in two unrelated patients with a chorea-acanthocytosis-like phenotype (CA) are reported. One case met all the diagnostic criteria of CA and had a deceased brother with the same disease. The second case had a virtually identical phenotype to the former but without acanthocytes.
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