Matches in SemOpenAlex for { <https://semopenalex.org/work/W2049816596> ?p ?o ?g. }
- W2049816596 endingPage "186" @default.
- W2049816596 startingPage "171" @default.
- W2049816596 abstract "Neurological abnormalities associated with spiculated, “acanthocytic” red cells in blood have been summarized as neuroacanthocytosis. This is a heterogeneous group of conditions that can now be clearly subdivided on the basis of genetic discoveries. The core neuroacanthocytosis syndromes are autosomal recessive chorea-acanthocytosis (ChAc) and the X-linked McLeod syndrome (MLS). Huntington's disease-like 2 (HLD2) and pantothenate kinase associated neurodegeneration (PKAN) can now also be included. All of these share dyskinesias, cognitive deterioration and progressive neurodegeneration mainly of the basal ganglia, but they are sufficiently distinct to permit a specific working diagnosis on the basis of clinical, laboratory and imaging findings. In addition, the VPS13A (formerly called CHAC), XK, JPH3 and PANK2 genes, respectively, may be examined for mutations. Unfortunately, little is yet known about the normal and abnormal physiology of the protein products of these genes, but they appear to be involved in membrane function and intracellular protein sorting. Since no cures are yet available, development and study of disease models in experimental animals (mouse, C. elegans) is a priority for current research. From a clinical point of view, the common occurrence of cardiomyopathy in MLS, the transfusion hazards due to the McLeod Kell phenotype and the possibility of improving the violent trunk spasms and orofacial dyskinesias typical for ChAc (with subsequent lip or tongue mutilations and feeding dystonia) by deep brain surgery or stimulation should be considered in patient management." @default.
- W2049816596 created "2016-06-24" @default.
- W2049816596 creator A5007116905 @default.
- W2049816596 creator A5029800720 @default.
- W2049816596 creator A5045173786 @default.
- W2049816596 creator A5073878691 @default.
- W2049816596 creator A5077529619 @default.
- W2049816596 creator A5084389843 @default.
- W2049816596 date "2005-03-01" @default.
- W2049816596 modified "2023-10-11" @default.
- W2049816596 title "Neuroacanthocytosis: new developments in a neglected group of dementing disorders" @default.
- W2049816596 cites W1500392412 @default.
- W2049816596 cites W1510652713 @default.
- W2049816596 cites W1518778430 @default.
- W2049816596 cites W1529384122 @default.
- W2049816596 cites W1529439802 @default.
- W2049816596 cites W1578475287 @default.
- W2049816596 cites W1589564633 @default.
- W2049816596 cites W1965439999 @default.
- W2049816596 cites W1968180131 @default.
- W2049816596 cites W1968749183 @default.
- W2049816596 cites W1970374784 @default.
- W2049816596 cites W1970841016 @default.
- W2049816596 cites W1972979406 @default.
- W2049816596 cites W1973020225 @default.
- W2049816596 cites W1973284660 @default.
- W2049816596 cites W1973565320 @default.
- W2049816596 cites W1974047098 @default.
- W2049816596 cites W1976808979 @default.
- W2049816596 cites W1982370772 @default.
- W2049816596 cites W1985456642 @default.
- W2049816596 cites W1990493721 @default.
- W2049816596 cites W1991007491 @default.
- W2049816596 cites W1994333666 @default.
- W2049816596 cites W1996818444 @default.
- W2049816596 cites W1997498129 @default.
- W2049816596 cites W2000054116 @default.
- W2049816596 cites W2001074857 @default.
- W2049816596 cites W2006327380 @default.
- W2049816596 cites W2009860127 @default.
- W2049816596 cites W2010753648 @default.
- W2049816596 cites W2014885127 @default.
- W2049816596 cites W2020182531 @default.
- W2049816596 cites W2020969243 @default.
- W2049816596 cites W2023218652 @default.
- W2049816596 cites W2024121790 @default.
- W2049816596 cites W2025968951 @default.
- W2049816596 cites W2027431712 @default.
- W2049816596 cites W2027640498 @default.
- W2049816596 cites W2030540514 @default.
- W2049816596 cites W2030616872 @default.
- W2049816596 cites W2036341081 @default.
- W2049816596 cites W2037685570 @default.
- W2049816596 cites W2038186997 @default.
- W2049816596 cites W2039093443 @default.
- W2049816596 cites W2039503226 @default.
- W2049816596 cites W2042516275 @default.
- W2049816596 cites W2043246947 @default.
- W2049816596 cites W2044280744 @default.
- W2049816596 cites W2048667586 @default.
- W2049816596 cites W2051764438 @default.
- W2049816596 cites W2053515109 @default.
- W2049816596 cites W2057500205 @default.
- W2049816596 cites W2058986447 @default.
- W2049816596 cites W2059486727 @default.
- W2049816596 cites W2059819499 @default.
- W2049816596 cites W2061287386 @default.
- W2049816596 cites W2061647901 @default.
- W2049816596 cites W2062821016 @default.
- W2049816596 cites W2063774541 @default.
- W2049816596 cites W2064085930 @default.
- W2049816596 cites W2066758103 @default.
- W2049816596 cites W2067161006 @default.
- W2049816596 cites W2067843812 @default.
- W2049816596 cites W2070315094 @default.
- W2049816596 cites W2070540476 @default.
- W2049816596 cites W2073855194 @default.
- W2049816596 cites W2084804559 @default.
- W2049816596 cites W2086824920 @default.
- W2049816596 cites W2088768513 @default.
- W2049816596 cites W2090964363 @default.
- W2049816596 cites W2091486611 @default.
- W2049816596 cites W2093031758 @default.
- W2049816596 cites W2093573878 @default.
- W2049816596 cites W2094478098 @default.
- W2049816596 cites W2094967904 @default.
- W2049816596 cites W2099997349 @default.
- W2049816596 cites W2102239505 @default.
- W2049816596 cites W2102543818 @default.
- W2049816596 cites W2106711789 @default.
- W2049816596 cites W2114123086 @default.
- W2049816596 cites W2120688283 @default.
- W2049816596 cites W2124077831 @default.
- W2049816596 cites W2129611261 @default.
- W2049816596 cites W2134626310 @default.
- W2049816596 cites W2135930974 @default.
- W2049816596 cites W2141381103 @default.
- W2049816596 cites W2142494110 @default.