Neurochemical findings in neuroacanthocytosis.
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.
de Yebenes
J G
JG
Departamento de Investigacíon, Centro Ramon y Cajal, Madrid, Spain.
Brin
M F
MF
Mena
M A
MA
De Felipe
C
C
del Rio
R M
RM
Bazan
E
E
Martinez
A
A
Fahn
S
S
Del Rio
J
J
Vazquez
A
A
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
D018377:Neurotransmitter Agents; D017981:Receptors, Neurotransmitter