Titlebook: Neuroacanthocytosis Syndromes; Adrian Danek Book 2005 Springer Science+Business Media B.V. 2005 attention.gene therapy.genes.genetics.koff

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Epilepsy in Neuroacanthocytosisere. Antiepileptic drug treatment should be started already after the occurrence of the first seizure of a patient with neuroacanthocytosis. Not only general side-effects must be considered when deciding about a specific drug but also effects upon the movement disorder should be taken into account.

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Neuromuscular Findings in Eight Italian Families with Neuroacanthocytosisthy was the prominent feature in McLeod syndrome, with central nucleation and necrotic fibers as the more constant findings. Occasionally mitochondrial changes, as a secondary phenomenon, were observed. Nerve pathology mostly consisted in myelinic lesions, such as thin myelin sheaths and onion bulb

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Cardiac Involvement in the Neuroacanthocytosis Syndromesopathy is reported in up to two thirds of cases, and sudden death from cardiac arrest is not infrequent. This review summarizes current understanding of familial hypertrophic and dilated cardiomyopathies and the cardiac findings in the neuroacanthocytosis syndromes. Unraveling the molecular basis of

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Erythrocyte Membrane Abnormalities in Neuroacanthocytosis: Evidence for a Neuron-Erythrocyte Axis?h two notable exceptions: the XK protein and the anion exchanger band 3. Changes in structure and/or function of erythrocyte band 3 are consistent findings in patients with neuroacanthocytosis. These changes are probably secondary to other processes, which may include changes in the lipid compositio

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