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

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McLeod Syndrome: A Clinical Reviewe myopathy, sensory-motor axonal neuropathy, and cardiomyopathy. Central nervous system manifestations resemble Huntington’s disease, with a choreatic movement disorder, subcortical cognitive deficits, psychiatric abnormalities, and generalized seizures.

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Book 2005as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington‘s disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroa

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Levine-Critchley Syndrome of Neuroacanthocytosis: A Clinical Reviewd plasma creatine kinase levels are all common. However, recent advances in molecular biology have shown the syndrome to be genetically heterogeneous, with mutations in at least two separate genes, both the . and McLeod genes being associated with very similar phenotypes.

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Autosomal-Dominant Chorea-Acanthocytosis: Report of a Family and Neuropathologyaudate-putamen and intranuclear inclusion bodies throughout the cerebral cortex. These inclusion bodies were immunoreactive for ubiquitin, expanded polyglutamine repeats, and torsinA. This family extends the genetic spectrum of chorea-acanthocytosis to include autosomal-dominant inheritance, possibly due to expanded trinucleotide repeats.

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Cognitive and Neuropsychiatric Findings in McLeod Syndrome and in Chorea-Acanthocytosisgenerations, most notably Huntington’s disease. Some distinction may be made on the basis of age of neuropsychiatric manifestations (MLS: fourth to fifth decade — ChAc: second to third decade) and the more pronounced features of ChAc. Correlation with the involvement of specific fronto-subcortical loops may be possible in the future.

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The Spectrum of Mutations and Possible Function of the CHAC Geneein-protein interactions. Chorein is homologous to Vps13p, implicated in protein trafficking in yeast. However, until functional studies are carried out, the possible function of chorein, and how its absence leads to the erythrocyte abnormalities and neurodegeneration that are characteristic of chorea-acanthocytosis, is open to speculation.