title: Cerebral involvement in McLeod syndrome.
abstract: McLeod syndrome is an Xp21-linked Kell blood group variant due to lack of erythrocyte protein Kx with associated RBC membrane dysfunction such as acanthocytosis. A man with this syndrome developed chorea and slight neuropsychological impairment. He had caudate atrophy on cerebral imaging and reduced striatal dopamine D2-receptor binding on single-photon emission computed tomography. Since Xp21 was partly deleted in the patient, the missing gene product (possibly Kx) may be essential for the integrity of the striatum.
authors.affiliation: Neurologische Klinik, Ludwig-Maximilians-Universität, Munich, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Danek
authors.forename: I
authors.initials: I
authors.lastname: Uttner
authors.forename: T
authors.initials: T
authors.lastname: Vogl
authors.forename: K
authors.initials: K
authors.lastname: Tatsch
authors.forename: T N
authors.initials: TN
authors.lastname: Witt
mesh_terms: D001549:Benzamides; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*; D003287:Contrast Media; D008040:Genetic Linkage; D006801:Humans; D007626:Kell Blood-Group System / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D011759:Pyrrolidines; D013577:Syndrome; D015899:Tomography, Emission-Computed, Single-Photon; D014057:Tomography, X-Ray Computed; D014960:X Chromosome
chemical_list: D001549:Benzamides; D003287:Contrast Media; D007626:Kell Blood-Group System; D011759:Pyrrolidines; C055743:3-iodo-2-hydroxy-6-methoxy-N-((1-ethyl-2-pyrrolidinyl)methyl)benzamide