Neuroacanthocytosis Syndromes by Adrian Danek (auth.), Adrian Danek (eds.)

By Adrian Danek (auth.), Adrian Danek (eds.)

Neuroacanthocytosis Syndromes is the 1st entire assessment of a box that has no longer but obtained the eye it merits. Affecting the mind in addition to the circulating crimson cells, those multi-system problems long ago had frequently been wrong for Huntington's disorder. fresh breakthroughs have now pointed out the molecular foundation of a number of of those. This quantity grew out of the 1st overseas clinical assembly ever dedicated to neuroacanthocytosis and offers in-depth information regarding the state-of-the-art. Its thirty chapters have been written through the prime gurus within the box to hide the scientific in addition to the elemental technology point of view, together with not just molecular genetics but additionally experimental pharmacology and telephone membrane biology, between others. The e-book vehemently poses the query of ways the membrane deformation of circulating pink blood cells pertains to degeneration of nerve cells within the mind, the basal ganglia, particularly. It offers a wealth of knowledge that might aid to unravel an exciting puzzle and simplicity the soreness of these laid low with one of many neuroacanthocytosis syndromes.

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1-22. Am J Hum Genet 66: 1699-1704. CHAPTER 4 LEVINE-CRITCHLEY SYNDROME OF NEUROACANTHOCYTOSIS: A CLINICAL REVIEW Richard J. Hardie Department of Neurology, Atkinson Morley’s Hospital, Copse Hill, London, UK Abstract. The term Levine-Critchley syndrome has been applied to an inherited multisystem degenerative neurological disorder associated with acanthocytosis in the absence of any lipid abnormality. Involuntary movements particularly affect the orofacial region and may cause dysarthria, dysphagia and vocalisations as well as tongue and lip biting which, when present, are virtually diagnostic.

In this chapter we will focus on the clinical differential diagnosis. There exist two distinguishable situations to remember: diseases with a primary progressive neurological disorder and systemic diseases with secondary and inconstant neurological symptoms or signs. Primary neurological diseases could then be subclassified in diseases with an abnormal lipid metabolism such as in abetalipoproteinemia and hypobetalipoproteinemia and in diseases without lipid abnormalities such as in chorea-acanthocytosis, in the McLeod syndrome, and in the HallervordenSpatz syndrome.

The neurological features are very similar, apart from less prominent orofacial dyskinesia and pseudobulbar disturbance and an absence of dystonia and parkinsonism in McLeod families. The McLeod phenotype was not tested for in the original Levine or Critchley kindreds, and was only documented to be negative in 2 pre-1991 case reports [10,20]. Even neurologically affected family members with proven heterozygous frameshift McLeod mutations may express Kell antigens sufficiently strongly not to be classified as having the classical blood group serotype.

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