title: Neurochemical findings in neuroacanthocytosis.
abstract: We performed a neurochemical study of the brain of two unrelated patients, living in different continents, with neuroacanthocytosis. The levels of monoamines and their metabolites, gamma-aminobutyric acid and substance P, were measured in several brain areas and the monoamine metabolites in cerebrospinal fluid. The binding of 3H-spiperone to striatal membranes and to lymphocytes was also measured. Both patients had a progressive neurological disorder with onset in the third decade of life and characterized by a complex movement disorder, epilepsy, muscular wasting, and changes in behavior. The movement disorder initially manifested with oromandibular dystonia and limb chorea, but at the time of death was characterized by a severe dystonic syndrome. The chemical changes were similar in the two patients. The most important neurochemical findings were a depletion of dopamine and its metabolites in most brain areas, most notably in the striatum, and elevation of norepinephrine levels in the putamen and globus pallidus. Substance P was markedly reduced in the striatum and substantia nigra. Our findings may provide clues to the neurochemical mechanisms underlying dystonia.
authors.affiliation: Departamento de Investigacíon, Centro Ramon y Cajal, Madrid, Spain.
authors.forename: J G
authors.initials: JG
authors.lastname: de Yebenes
authors.forename: M F
authors.initials: MF
authors.lastname: Brin
authors.forename: M A
authors.initials: MA
authors.lastname: Mena
authors.forename: C
authors.initials: C
authors.lastname: De Felipe
authors.forename: R M
authors.initials: RM
authors.lastname: del Rio
authors.forename: E
authors.initials: E
authors.lastname: Bazan
authors.forename: A
authors.initials: A
authors.lastname: Martinez
authors.forename: S
authors.initials: S
authors.lastname: Fahn
authors.forename: J
authors.initials: J
authors.lastname: Del Rio
authors.forename: A
authors.initials: A
authors.lastname: Vazquez
mesh_terms: D000050:Acanthocytes / Q000473:pathology*; D000328:Adult; D001284:Atrophy; D001921:Brain / Q000473:pathology*; D002421:Caudate Nucleus / Q000473:pathology; D002819:Chorea / Q000235:genetics / Q000473:pathology*; D004200:Diseases in Twins; D004421:Dystonia / Q000235:genetics / Q000473:pathology*; D004913:Erythrocytes, Abnormal / Q000473:pathology*; D006801:Humans; D008297:Male; D018377:Neurotransmitter Agents / Q000032:analysis*; D017981:Receptors, Neurotransmitter / Q000032:analysis
chemical_list: D018377:Neurotransmitter Agents; D017981:Receptors, Neurotransmitter