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Increased prevalence of pervasive developmental disorders in children with slight arylsulfatase A deficiency
No full textArylsulfatase A deficiency (less than 15% of controls) is responsible for a neurological disorder known as metachromatic leukodystrophy.
Nonetheless, low levels of the enzyme (15–50% of controls, higher than in metachromatic leukodystrophy) in adult patients have been
related to neuropsychiatric disorders. On the other hand, there are only few and controversial data on the significance of reduced arylsulfatase
A activity in children. This led us to perform the present study. Various classes of arylsulfatase A activity in children have been related with
different groups of neuropsychiatric disorders and compared with a similar number of healthy children. We found a high percentage of
reduced arylsulfatase A (less than 50% of controls) in children with pervasive developmental disorders (10.25%). Unexpectedly, raising the
threshold level for considering arylsulfatase A deficiency up to 70% of controls resulted in a marked increase in the incidence of pervasive
developmental disorders. This new class, arylsulfatase A slight deficiency, contained the highest number of patients affected by psychiatric
symptoms. This suggests that arylsulfatase A slight deficiency could be a marker of a subclass of pervasive developmental disorders.
q 2002 Elsevier Science B.V. All rights reserved
Influence of a prostacyclin anologue, iloprost, on kappa-carrageenin (KC) + 5-hydroxy-tryptamine (5-HT)- induced tail thrombosis in the rat
No full textArginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts
No full textCreatine transporter 1 (CT1) defect is an X-linked disease that causes severe neurological impairment. No treatment has been available for this condition so far. Because the transport of creatine (Cr) precursors Gly and Arg is not affected in this disorder, we tested the possible corrective effect of these two amino acids on Cr depletion in lymphoblasts lacking the transporter. Substrates enriched with Arg or Arg plus Gly increased the concentration of intracellular Cr in affected cells as well as in control cells. The greatest effect was obtained with 10 and 15 mM Arg and 10 mM Arg plus Gly. These results encourage an in vivo trial with Cr precursors in CT1 defect
Treatment Monitoring of Brain Creatine Deficiency Syndromes: a 1H and 31P MR Spectroscopy Study
No full textBACKGROUND AND PURPOSE: Brain creatine (Cr) deficiencies (BCr-d) are rare disorders of creatine biosynthesis and transport. We performed consecutive measures of total Cr (tCr) and of its phosphorylated fraction, phosphocreatine (PCr), in the brains of children affected by Cr synthesis defects during a long period of therapy. The aim was to identify the optimal treatment strategy for these disorders. MATERIALS AND METHODS: Two patients with guanidinoacetate methyltransferase defect (GAMT-d) were treated with different amounts of Cr and with diet restrictions aimed at reducing endogenous guanidinoacetate (GAA) synthesis. Three patients with arginine:glycine amidinotransferase defect (AGAT-d) were treated with different Cr intakes. The patients’ treatments were monitored by means of 1H- and 31P-MR spectroscopy. RESULTS: Cr and PCr replenishment was lower in GAMT-d than in AGAT-d even when GAMT-d therapy was carried out with a very high Cr intake. Cr and especially PCr replenishment became more efficient only when GAA blood values were reduced. Adenosine triphosphate (ATP) was increased in the baseline phosphorous spectrum of GAMT-d, and it returned to a normal value with treatment. Brain pH and brain Pi showed no significant change in the AGAT-d syndrome and at any Cr intake. However, 1 of the 2 GAMT-d patients manifested a lower brain pH level while consuming the GAA-lowering diet. CONCLUSIONS: AGAT-d treatment needs lower Cr intake than GAMT-d. Cr supplementation in GAMT-d treatment should include diet restrictions aimed at reducing GAA concentration in body fluids. 1H- and especially 31P-MR spectroscopy are the ideal tools for monitoring the therapy response to these disorders
Similar increases in extracellular lactate in the limbic system after epileptic and olfactory stimulation..
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Brief and repeated noise exposure produces different morphological and biochemical effects in noradrenaline and adrenaline cells of adrenal medulla
No full textExposure to stressful stimuli is known to activate the peripheral sympathetic nervous system and the adrenal gland. In this study, we evaluated the effects of single or repeated bouts of exposure to a readily measurable stressful stimulus (loud noise) on the catecholamine content and ultrastructure of the rat adrenal medulla. In particular, we measured tissue levels of dopamine, noradrenaline, adrenaline and metabolites. In parallel studies, we evaluated the fine ultrastructure of catecholamine cells, including a detailed study of catecholamine granules and a morphometric analysis of adrenaline and noradrenaline medullary cells. Animals were exposed either to a single (6 h) session of loud (100 dBA) noise, or to this noise stimulus repeated every day for 21 consecutive days. There was a marked correlation between biochemical indexes of catecholamine activity and the ultrastructural morphometry of specific catecholamine granules. Exposure to loud noise for 6 h induced a parallel increase in dopamine, noradrenaline, adrenaline and their metabolites, a polarization and an increased numerical density of noradrenaline and adrenaline granules in the cells. After repeated noise exposure, noradrenaline levels were significantly higher than in controls, and adrenaline decreased significantly. In addition, adrenaline cells also exhibited ultrastructural alterations consisting of wide homogeneous cytoplasmic areas and large, pale vesicles
BETA,BETA'-IMINODIPROPIONITRILE-INDUCED PERSISTENT DYSKINETIC SYNDROME IN MICE IS TRANSIENTLY MODIFIED BY MPTP
No full textChronic administration of iminodipropionitrile (IDPN) is known to produce a persistent dyskinetic syndrome. Recent neurochemical reports seem to point out the dopaminergic system as having an important role in mediating IDPN syndrome. In order to identify a possible role for the nigrostriatal dopaminergic pathway in determining at least some aspects of the IDPN-induced dyskinetic syndrome, we used the neurotoxin, 1-methyl, 4-phenyl,1,2,3,6-tetrahydropyridine (MPTP), as a tool for investigating which aspects of the IDPN-related syndrome could be due to enhanced dopaminergic activity in the neostriatum. In mice made permanently dyskinetic with IDPN, MPTP administration produced dramatic and biphasic effects on all behavioral patterns characteristic of the dyskinetic syndrome. Six weeks after the syndrome occurred, IDPN failed to produce any change in striatal DA levels with respect to controls. By contrast, IDPN seems to reduce striatal levels of extraneuronal metabolites of DA. These data suggest that the activity of the nigrostriatal dopaminergic pathway does not play a leading role in the maintenance of IDPN-related syndrome. The transient modification of all behavioral parameters immediately after MPTP administration could be explained by acute effects of MPTP on other dopaminergic areas which are not permanently lesioned by this neurotoxin, or by the acute effects of MPTP on the release of other neurotransmitters
Il lattato extracellulare come indice di attività neuronale nell’animale sveglio e libero di muoversi.
No full textThe loss of noradrenergic axons induces a causal effect in different models of experimental Parkinsonism.
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