000			04656nam a22004215i 4500
001			978-1-4020-2898-4
003			DE-He213
005			20251006084449.0
007			cr nn 008mamaa
008			100301s2005 ne | s |||| 0|eng d
020			_a9781402028984
020			_a99781402028984
024	7		_a10.1007/1-4020-2898-9 _2doi
082	0	4	_a612.8 _223
100	1		_aDanek, Adrian. _eeditor.
245	1	0	_aNeuroacanthocytosis Syndromes _h[electronic resource] / _cedited by Adrian Danek.
264		1	_aDordrecht : _bSpringer Netherlands, _c2005.
300			_aXVII, 288 p. _bonline resource.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_atext file _bPDF _2rda
505	0		_aNeuroacanthocytosis Syndromes: What Links Red Blood Cells and Neurons? -- Clinical Context -- The Differential Diagnosis of Neuroacanthocytosis: An Overview -- Acanthocytes and Disorders of Lipoprotein Metabolism -- Levine-Critchley Syndrome of Neuroacanthocytosis: A Clinical Review -- Chorea-Acanthocytosis with the Ehime-Deletion Mutation -- McLeod Syndrome: A Clinical Review -- Autosomal-Dominant Chorea-Acanthocytosis: Report of a Family and Neuropathology -- Acanthocytes in Pantothenate Kinase Associated Neurodegeneration -- Diagnostic Test for Neuroacanthocytosis: Quantitative Measurement of Red Blood Cell Morphology -- Differential Diagnosis of Serum Creatine Kinase Elevation -- Organ Involvement -- Pathology of Neuroacanthocytosis and of Huntington's Disease -- Cognitive and Neuropsychiatric Findings in McLeod Syndrome and in Chorea-Acanthocytosis -- Epilepsy in Neuroacanthocytosis -- Sleep Features in Chorea-Acanthocytosis -- Neuromuscular Findings in Eight Italian Families with Neuroacanthocytosis -- Cardiac Involvement in the Neuroacanthocytosis Syndromes -- Basic Science -- Erythrocyte Membrane Abnormalities in Neuroacanthocytosis: Evidence for a Neuron-Erythrocyte Axis? -- Erythrocyte Membrane Anion Exchange Abnormalities in Chorea-Acanthocytosis: the Band 3 Network -- The Spectrum of Mutations and Possible Function of the CHAC Gene -- Immunohematology of the Kell and KX Blood Group Systems -- C. Elegans as a Disease Model for Neuroacanthocytosis -- The Kell Blood Group Protein, its Relation to XK and its Function as an Endothelin-3-Converting Enzyme -- Endothelins as Basal Ganglia Transmitters -- Substrates for Transglutaminase-Catalyzed Cross-Linking: Relevance to Pathogenesis of Huntington's Disease and Chorea-Acanthocytosis -- Huntington's Disease Animal Models: What Lessons Can Be Learned for Research on Neuroacanthocytosis Syndromes? -- Motor Deficits as Biomarkers in Huntington's Disease: Perspectives for Neuroacanthocytosis Syndromes -- Treatment -- Treatment Options in Huntington's Disease -- Is Surgical Treatment an Option for Chorea-Acanthocytosis? -- The Potential for Gene Therapy of Neurodegenerative Disorders -- Summary -- Research Agenda in Neuroacanthocytosis.
520			_aNeuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as 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 neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes.
650		0	_aMEDICINE.
650		0	_aHUMAN GENETICS.
650		0	_aNEUROSCIENCES.
650	1	4	_aBIOMEDICINE.
650	2	4	_aNEUROSCIENCES.
650	2	4	_aHUMAN GENETICS.
710	2		_aSpringerLink (Online service)
773	0		_tSpringer eBooks
776	0	8	_iPrinted edition: _z9781402028977
856	4	0	_uhttp://dx.doi.org/10.1007/1-4020-2898-9 _zVer el texto completo en las instalaciones del CICY
912			_aZDB-2-SBL
942			_2ddc _cER
999			_c60281 _d60281