11/17. Positron emission tomographic study of D2 dopamine receptor binding and CSF biogenic amine metabolites in rett syndrome.We report on the first positron emission tomographic study of dopamine receptor binding in rett syndrome. The patient is a 25 year old Austrian woman diagnosed at age 2 and followed since then by Rett. A computed axial tomogram (CT scan) showed cortical atrophy, and enlarged ventricles but normal structure of the caudate/putamen. Following the CT scan 20 mCi of 11 C N-methyl spiperone, a butyrophenone with a high affinity for dopamine D2 receptors was administered intravenously. The patient was found to have dopamine D2 receptor binding activity in the low normal range. The caudate/cerebellar activity ratio was below the mean regression line (p = 0.10) that relates the CA/CB ratio as a function of age. Levels of cerebrospinal fluid neurotransmitter metabolites were normal.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
12/17. Preliminary brain autopsy findings in progredient rett syndrome.Postmortem human brain analyses have been performed to further evaluate pathogenetic aspects of the rett syndrome. While there are no significant abnormalities with respect to amino acid concentrations in putamen, caudate nucleus, red nucleus and thalamus, the concentration of kynurenine is increased in putamen, caudate nucleus, gl. pallidus, raphe and amygdaloid n. In contrast, serotonin and its metabolite 5-hydroxyindole acetic acid are below normal levels. D2-receptor number is decreased and there is a significant drop in the concentration of the iron-binding protein ferritin. It can be concluded, that reduction of D2-receptors is due to loss of cholinergic and GABA-ergic cell bodies in the striatum or may be a response to iron deficiency. Low serotonergic and high kynurenergic activity may be of pathogenetic importance in the frequently observed cerebral seizures in rett syndrome.- - - - - - - - - - ranking = 2keywords = putamen (Clic here for more details about this article) |
13/17. Reduced concentrations and increased metabolism of biogenic amines in a single case of Rett-syndrome: a postmortem brain study.Preliminary data of a postmortem brain study in a single case with Rett-syndrome compared to a single control case show a severe reduction of dopamine (DA), noradrenaline (NA), and serotonin (5-HT) in most regions studied and in two regions of adrenaline (A). A marked increase in the 3,4-dihydroxyphenyl acetic acid (DOPAC)/DA, homovanillic acid (HVA)/DA, and the 5-hydroxyindole acetic acid (5-HIAA)/5-HT ratios indicates increased metabolism of DA and 5-HT. Also a marked reduction of 3H-spiroperidol-binding in putamen was found. This agrees with the assumption that a defect in maturation processes of central monoaminergic systems could be an underlying cause of Rett-syndrome.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
14/17. Familial dystonia and visual failure with striatal CT lucencies.A unique disorder is described in seven members of two families in whom dystonia was variably associated with subacute visual loss or asymptomatic optic atrophy, and striking bilateral symmetrical lucencies on CT scan, especially involving the putamen. It is possible that this is a variant of Leigh's disease. However, there were considerable differences between these patients and those with pathologically proven Leigh's disease. This condition must be excluded in all patients thought to have idiopathic dystonia, subacute visual failure similar to Leber's optic neuropathy, or a combination of these disorders.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
15/17. multiple system atrophy with autonomic failure: clinical, histological and neurochemical observations on four cases.Four cases of progressive autonomic failure are described, in all of which there were additional non-autonomic neurological abnormalities, including pyramidal, extra-pyramidal and cerebellar features. Histological examination revealed cell degeneration in the substantia nigra, putamen and intermediolateral columns of the spinal cord as a common pathological finding. In addition, 3 cases showed loss of purkinje cells in the cerebellum and degeneration of pontine nuclei and inferior olivary nuclei. In one case there was cell loss from the locus coeruleus, caudate nucleus, vestibular nuclei and dorsal vagal nuclei. These were, therefore, cases of multiple system atrophy. Neurochemically, a common feature was a profound depletion in dopamine and noradrenaline from brain regions which are normally rich in these catecholamines. Central cholinergic systems appeared to be involved also, but to a variable degree.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
16/17. Nasu-Hakola disease. A case accompanied by abnormalities in fatty acid composition of serum total lipids and amino acid analysis.A case of Nasu-Hakola disease (membranous lipodystrophy) was reported. The patient is a 33-year-old man who started to have pathological fractures at the age of 24 years. Then, neurological symptoms such as dementia appeared gradually. A biopsy specimen of the bone showed membranocystic changes of the adipose tissue. T2-weighted magnetic resonance images of the head showed low intensity in bilateral putamens, internal capsules, globi pallidi and caudate nuclei. One of his brothers has the same disease. In both patients, fatty acid composition of serum total lipids showed increased nervonic acid and plasma amino acid analysis showed decreased glutamine.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
17/17. Sydenham chorea: magnetic resonance imaging reveals permanent basal ganglia injury.MRI of the brain of a 3-year-old boy performed 3 days after the onset of hemichorea (Sydenham chorea) revealed abnormal signal and enlargement of the contralateral caudate and putamen. Follow-up imaging 40 months later showed a persistent cystic appearance of the caudate and putamen. This case is the first report of permanent MRI abnormalities after Sydenham chorea.- - - - - - - - - - ranking = 2keywords = putamen (Clic here for more details about this article) |
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