[PERSISTENT AKINETIC-RIGID SIDE EFFECTS OF NEUROLEPTICS MAY INDICATE WILSON'S DISEASE]
ASCHERMANN Zsuzsanna, SZALAY Ferenc, SCHMIDT Erzsébet, KOMOLY Sámuel, ILLÉS Zsolt
SEPTEMBER 30, 2007
Clinical Neuroscience - 2007;60(09-10)
ASCHERMANN Zsuzsanna, SZALAY Ferenc, SCHMIDT Erzsébet, KOMOLY Sámuel, ILLÉS Zsolt
SEPTEMBER 30, 2007
Clinical Neuroscience - 2007;60(09-10)
[Here we report two cases, where neuroleptic treatment provoked persistent akinetic-rigid symptoms resulting in the diagnosis of Wilson's disease. No liver function abnormalities suggested Wilson's disease in one of the cases. In both cases, the akinetic-rigid symptoms were originally attributed to side effects of neuroleptics, but symptoms persisted after discontinuation of treatment. In one of the cases, T2-weighted cranial MRI indicated bilateral hyperintense signals in the basal ganglia. Our cases suggest that in a subgroup of Wilson's disease, dopamin receptor antagonists may provoke akinetic-rigid neurological symptoms possibly due to the damage of dopaminergic neurons. Persistent akinetic-rigid side effects of neuroleptics in young patients thus require diagnostic tests to exclude Wilson's disease even in unsuspected cases.]
Clinical Neuroscience
[Background and purpose - The origin and afferentation of the frontal N30 component of the median nerve somatosensory evoked potentials (SEPs) have not yet been fully elucidated. The aim of this study was to assess the possible selective impairment of the N30 component in patients with lacunar infarcts of the basal ganglia as compared to patients with lacunar infarctions sparing the basal ganglia and to a group of healthy subjects. Methods - Median nerve SEPs were measured in ten patients with lacunar infarctions of the brain (but no cortical atrophy or leukoaraiosis) and 13 healthy volunteers. Four patients had lacunar infarctions affecting the basal ganglia and 6 patients had lesions affecting other structures. Results - In two patients with lesions affecting the head of the caudate nucleus, there was no identifiable N30 component on the affected side. In one patient with bilateral lesions of the globus pallidus, the amplitude of the N30 component was significantly reduced. In one patient with lesion of the tail of the caudate nucleus, the N30 component was unaffected. The amplitude of the N30 component was also reduced in two patients with frontal subcortical white matter lesions. In all the other subjects, we recorded normal N30 components on both sides. Conclusion - Our results further support the importance of the basal ganglia, especially the head of the caudate nucleus in the generation of the N30 component of the median nerve SEPs.]
Clinical Neuroscience
[Acute cerebral ischemia is one of the leading causes of mortality and chronic disability worldwide. Animal models of focal (stroke-type) and global (cardiac arrest-type) ischemia have been established to investigate the morphological, functional and molecular consequences and to design therapeutic strategies for the improvement of ischemic injury. Despite highly beneficial effects in experimental studies, most human clinical trials were disappointing, suggesting inefficacies in the design and/or translation of animal experiments. In this review the pathophysiologically relevant particularities of ischemia models will be discussed to provide a rational basis for the proper selection of animal models for testing therapeutic strategies under experimental conditions.]
Clinical Neuroscience
[This paper provides an overview of the development of conceptions about nocturnal frontal lobe epilepsy syndrome and describes the electro-clinical characteristics, the identity of the genetic and sporadic variant, and the relationship of the EEG and clinical signs with NREM sleep specific features. The differential diagnostic difficulties and open questions on the pathomechanism are emphasized especially in relation with the lack of epileptiform EEG signs, circumsribed seizure onset zone and cognitive deficits. The relationship of frontal automatisms and NREM parasomnias are also discussed in relation of the place of nocturnal frontal lobe epilepsy among other epilepsies.]
Clinical Neuroscience
[Systemic lupus erythematosus is a frequent autoimmune disease, affecting several organs, including the brain, spinal cord and nerves. Cerebral vasculitis, transverse myelitis and polyneuropathy are the most common neurological manifestations. We report a case of a 46 years old woman who suffered incomplete transverse myelitis in her age of 44. After 2 years the second relapse presented with arthralgias, painful paraesthesias and weakness of the lower limbs. Neurological signs suggested involvement of the central and the peripheral nervous system. Based upon clinical and laboratory findings systemic lupus erythematosus was diagnosed. Magnetic resonance imaging revealed two hyperintense lesions on T2 weighted scans within the cervical spinal cord. The brain scan was normal. Protein content was slightly elevated in the cerebrospinal fluid, with normal cell count. Electrophysiological examinations diagnosed a subacute sensory-motor axonal polyneuropathy. On methylprednisolone treatment her condition improved. Simultaneous development of central and peripheral lesions of the nervous system in cases with systemic lupus erythematosus may lead to a challenge to establish the diagnosis.]
Clinical Neuroscience
Lege Artis Medicinae
[Wilson’s disease is an autosomal recessive disease with toxic copper accumulation caused by the mutation of the ATP7B gene in chromosome 13. The estimated prevalence of the disease is 2-3 / 100000. Early diagnosis is important because the treatment may stop the progression and could result regression or it can prevent the clinical manifestation of the disease. In our case study we describe how difficult could be to diagnose the disease, the role of the family physician in the preparation for liver transplantation and in the follow-up care. This case is an example demonstrating that Wilson's disease is often diagnosed only years after the appearance of the first symptom. We review the most important literature data on Wilson’s disease. ]
Lege Artis Medicinae
[Alcoholic and drug induced liver diseases, nonalcoholic steatohepatitis, hepatitis C and B chronic hepatitis, autoimmune diseases (primary biliary cirrhosis, primary sclerosing cholangitis, autoimmune hepatitis) and metabolic disorders (hemochromatosis, Wilson's disease) are the main chronic liver diseases. Authors summarize, based on the latest literature data, the medications of chronic liver diseases, emphasizing the treatment of the everyday practice. Natural and synthetic antioxidants are approved for the treatment of chronic alcoholic liver diseases besides abstinence, with diet of adequate quality and quantity. Nucleoside analogues (lamivudin) are recommended for the first-line therapy of the treatment of chronic hepatitis B. Interferon is presently considered the optimal treatment for only certain patients. Interferon and ribavirin combined therapy is well-established in the treatment of chronic hepatitis C. Ursodeoxycholic acid is the beneficial treatment option for primary biliary cirrhosis and primary sclerosing cholangitis. Prednisolon and azathioprine constitute the basic therapy of autoimmune hepatitis. Presumably, in the future, new strategies based on immunosuppressive combinations will play a crucial role. The chelating deferoxamine has less important part in the treatment of hemochromatosis. D-penicillamine still plays principle role in the medication of Wilson's disease.]
Lege Artis Medicinae
[INTRODUCTION - Wilson’s disease is a rare genetic disease of copper metabolism. Nearly, 300 patients in Hungary suffering from Wilson’s disease CASE - 25-year-old male patients were examined because of because speech impairment and ocular symptoms. The increase in blood copper and ceruloplasmin and point mutations in the ATP7B proven confirmed the diagnosis of Wilson’s disease. DISCUSSION - In diagnosis of rare disease is not easy because of the variety of symptoms and the high costs of genetic testing, we would like to draw the attention to it.]
Clinical Neuroscience
[Background and purpose - Hypothalamic dopamine (DA), the physiological regulator of pituitary prolactin (PRL) secretion, is synthesized in the neuroendocrine DAergic neurons that projects to the median eminence and the neurointermediate lobe of the pituitary gland. The rate-limiting step of DA biosynthesis is catalyzed by the phosphorylated, therefore activated, tyrosine hydroxylase (TH) that produces L-3,4-dihydroxy- phenylalanine from tyrosine. The aims of our present study were to investigate 1. the effect of local inhibition of the DA biosynthesis in the hypothalamic arcuate nucleus on PRL release, and to get 2. some information whether the phosphorylated TH is the target of enzyme inhibition or not. Methods - A TH inhibitor, α-methyl-p-tyrosine was injected either intracerebro-ventricularly or into the arcuate nucleus of freely moving rats and plasma PRL concentration was measured. Immunohistochemistry, using antibodies raised against to native as well as phosphorylated TH were used to compare their distributions in the arcuate nucleus-median eminence region. Results - Intracerebro-ventricular administration of α-methyl-p-tyrosine has no effect, unlike the intra-arcuatus injection of enzyme inhibitor resulted in a slight but significant elevation in plasma PRL. Parallel with this, the level of DA and DOPAC were reduced in the neurointermediate lobe while no change in norepinephrine concentration can be detected indicating a reduced biosynthesis of dopamine following TH inhibition. On the other hand, systematic application of the α-methyl-p-tyrosine that inhibits TH activity located in DA terminals of the median eminence and the neurointermediate lobe, resulted in the most significant elevation of PRL. Conclusion - Our results suggest that α-methyl-p-tyrosine administered close to the neuroendocrine DAergic neurons was able to inhibit only a small proportion of the TH. Moreover, it also indicate that the majority of the activated TH can be found in the axon terminals of DAergic neurons, therefore, the DA released into the pituitary portal circulation is synthesized at this site.]
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