Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We analyzed 71 patients (45 males and 26 females) with Wilson's disease (WD) who were seen at our hospital from 1979 through 1990. The mean age at onset was 18.1 +/- 6.5 years, with 17.0 +/- 6.6 years for males and 20.2 +/- 5.7 years for females. The mean age at the time of diagnosis was 21.0 +/- 6.3 years. Hepatic WD was the most frequent mode of presentation in childhood with a mean age of 15.5 +/- 6.0 years, while neurologic WD tended to occur in adolescence with a mean age of 21.0 +/- 8.9 years. The ages of onset were 12.5 +/- 0.5 years for renal WD and 25.3 +/- 2.4 years for psychiatric WD. The common initial symptoms were neurologic and hepatobiliary. In addition, hematologic and renal disorders were also common during evaluation. The neurologic findings at the time of diagnosis were tremors (66.2%), dysarthria (56.3%), gait disturbances (46.5%), dystonia (42.3%) and decreased facial expressions (40.8%). Less frequent but notable neurologic presentations were psychosis (11.3%), epileptic seizures (5.6%) and hypokalemic periodic paralysis (1.4%). When compared with two previous large Chinese series, the present data show a male preponderance, an earlier age of onset for males and higher incidences of hepatic, hematologic and renal involvement. The possible reasons for the discrepancies between the present study and previous Chinese series are discussed.
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PMID:Wilson's disease: clinical analysis of 71 cases and comparison with previous Chinese series. 135 28

A 55-year-old female with progressed dementia, cerebellar ataxia was reported. There was no family history of the same symptoms although her brothers, sisters and a son showed hypoceruloplasminemia and decrease of the serum copper content. On physical examination, anemia, dementia, dysarthria, torticollis, choreic involuntary movement of respiratory muscles, hyperreflexia in extremities and cerebellar ataxia were noted. Blood analysis revealed microcytic hypochromic anemia, diabetes mellitus, decrease of copper content of the serum and urine. Serum ferritin concentration was increased. Serum ceruloplasmin could not be detected. Biopsy of the liver showed that copper content in the liver was slightly increased and iron content was remarkably increased. On MRI study, dentate nucleus of the cerebellum, the thalamus, the putamen and the caudate nucleus and the liver showed low intensity in both T1 and T2 weighted images. Based on increased iron content in the liver, the radiological findings of the brain suggested deposition of iron in the brain. This deposition was considered as caused by deficiency of function of ceruloplasmin as ferroxidase. This disorder is suggested as a new disease due to ceruloplasmin deficiency different from Wilson's disease.
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PMID:[A case of ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain]. 145 25

To discover the earliest symptoms and signs of neurological Wilson's disease we analysed the case histories of 136 patients who were seen between 1955-87: patients with hepatic or presymptomatic Wilson's disease were excluded from this series. Thirty one patients (23%) gave a history of an episode of liver damage. The onset of symptoms ranged from nine to 40 years with a median of 16.2 years. The correct diagnosis was made at presentation in only 43 patients. The mean delay before diagnosis was 12.8 months for the others. The earliest symptoms were dysarthria or difficulty with the hands, or often both. There was often an associated change in personality or deteriorating performance at school. The four common clinical pictures were Parkinsonian (61 cases), "pseudosclerotic" (33 cases), dystonic (21 cases) and choreic (15 cases): six cases were unclassified. Parkinsonian symptoms were equally common in children (under 17 years) and adults, a "pseudosclerotic" picture was much more common in adults but dystonic and choreic symptoms were seen more often in children. Experience suggests that no two patients are ever the same, even in a sibship.
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PMID:Wilson's disease: the problem of delayed diagnosis. 152 40

Hepatocerebral degeneration is a hereditary copper metabolic disorder caused by yet unknown pathological process in the 13th chromosome. The disease is more frequent than is usually believed and has systemic characteristics, although the central nervous system and liver are most often affected. The authors describe 35 patients with neurological form of the disease (mean age 29.3 +/- 1.9 years; mean duration of the disease 3.8 +/- 1.7 years). The most frequent symptoms of these patients are dysarthria (88.6%), tremor (85.7%) and rigidity (80%), while elevated liver copper concentration (97.1%) presents the most frequent biochemical disorder of the copper metabolism. Contrary to common opinion about the pathognomy of Kayser-Fleischer ring, its existence is confirmed in only 60% of the patients. On the basis of the author's own results, along with the reference to already described data from literature, the authors give a survey of current knowledge about hepatocerebral degeneration.
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PMID:[Hepatocerebral degeneration]. 166 33

MRI scans were obtained from three patients with Wilson's disease, all of whom showed rigidity and dysarthria; two also showed tremor and dystonia. Two had been treated with D-penicillamine for seven and 14 years, respectively and their neurological abnormalities had improved, but the third patient had not been treated. T2-weighted MRI of the mid-brain in all three revealed the characteristic "face of the giant panda" sign, consisting of high signal intensity in the tegmentum except for red nucleus, preservation of signal intensity of the lateral portion of the pars reticulata of the substantia nigra and hypo-intensity of the superior colliculus. The clinical significance of these MRI abnormalities is discussed.
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PMID:Mid-brain pathology of Wilson's disease: MRI analysis of three cases. 189 27

Forty-five patients with Wilson's disease (WD) were prospectively studied: 27 had neurological deficits, 12 hepatic signs, and 6 were asymptomatic. Kayser-Fleischer rings occurred in 23 of the neurological patients and in only 4 of the hepatic patients. Neurological features were extremely variable with respect to frequency and severity. Most frequent were dysdiadochokinesis (25 patients), dysarthria (23), bradykinesia (17), and posture tremor (14). Fifteen, mainly long-term treated patients, presented with rather discrete neurological abnormalities which predominantly consisted of dysarthria and various forms of tremor. Eight patients had a parkinsonian type of neurological WD associated with signs of an organic mood syndrome. Three patients were predominantly hyperkinetic, presenting with dystonic and choreatic movements. In 1 patient, ataxia was the predominant neurological feature. There was a clear-cut correlation between the severity of neurological impairment and the restriction in functional capacity. Nine patients were not able to engage in salaried employment or were retired. Psychiatric symptoms and behavioural disorders were common, varying from mild personality and psychological disturbances to severe psychiatric illness resembling psychotic disorders and major depressive syndromes. Significant mental deterioration was not found in the patients. Disturbances of mood were observed in 12 patients, all of whom had neurological abnormalities. There was a history of an attempted suicide in 7 patients, and a history of an organic delusional syndrome in 3.
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PMID:Neurological and neuropsychiatric spectrum of Wilson's disease: a prospective study of 45 cases. 191 12

Follow-up magnetic resonance imaging (MRI) and computed tomography (CT) examinations were performed on five patients with Wilson's disease at intervals from 6 to 29 months. We studied the clinical correlation with MRI and CT, and whether the examination of MRI and CT could be useful for evaluation of the therapeutic effect. Positron emission tomography (PET) was also carried out on 4 cases except for an asymptomatic case (patient 2, sister of patient 1). Close relationship has been observed by MRI between dystonia and the lesion of the lenticular nuclei, abnormality of smooth pursuit eye movements and the brain stem lesion, and severe dysarthria/dysphagia and the lesion of the caudate and lenticular nuclei, respectively. In patient 4, repeated MRI of an interval of 18 months demonstrated decrease of the abnormal high signal in the lateral part of the putamen on T2-weighted image in accordance with marked improvement of clinical manifestations. In patient 3, who had severe dystonia of the extremities and trunk, T2-weighted image showed high signals in the lenticular nuclei. Marked decrease of the high signal in the lenticular nuclei was observed by MRI in this patient after 29 months, when her neurological manifestations were markedly improved. Patient 5 with severe cerebellar signs disclosed abnormal signals in the middle cerebellar peduncles, brain stem and dentate nuclei in addition to low signals in the caudate and lenticular nuclei, and high signals in the lateral part of the putamen on T2-sequence.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Clinico-radiological correlation of Wilson's disease by magnetic resonance imaging, computed and positron emission tomography]. 206 Feb 37

Neurological form of Wilson's disease in children usually manifests with dystonia as the initial sign. Tremor of extremities, dysarthria and ataxia may follow. Copper deposits in gray and white matter along with the basal ganglia. A pediatric case presenting with tremor of the tongue and dysarthria as the only findings of Wilson's disease is reported. Tongue tremor should also be taken into notice within the basal ganglia symptomatology.
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PMID:Tremor of tongue and dysarthria as the sole manifestation of Wilson's disease. 217 43

Thirty-eight patients with biochemically proven Wilson's disease underwent magnetic resonance-imaging (MRI) of the brain as well as neurological examinations. The patients were scanned using spin-echo (SE) sequences; the neurologist was looking for typical symptoms: dysarthria, tremor, ataxia, rigidity/bradykinesia and chorea/dystonia. Pathological MR findings believed secondary to this uncommon inherited disorder of copper metabolism were found in twenty-two subjects. Focal abnormalities were seen in the lenticular, thalamic and caudate nuclei as well as in brain stem and white matter; these lesions were best demonstrated on T2-weighted sequences as hyperintense areas. In eight patients we found diffuse brain atrophy with consecutive widening of the ventricular system. Five subjects showed mild, nineteen severe neurologic deficits. Generally there was no correlation between MR findings and clinical neurological symptoms; the impairment of cell-metabolism causing functional alterations of the brain precedes morphological changes. During treatment with the copper chelator D-penicillamine there seemed to be a phased course of disease. Shortening of T1-relaxation due to paramagnetic influence of copper was not seen; a possible explanation could be intracellular deposition--a proton-electron-dipolar-dipolar-interaction would therefore be impossible.
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PMID:Cranial MRI in Wilson's disease. 221 6

Hepatolenticular degeneration (Wilson's disease) is a hereditary disease in which metabolic disorder of copper leads to its accumulation in the liver, brain, cornea and kidneys with consequent pathologic changes in those organs. Hereditary mechanism of the disease is autosomal recessive with prevalence of 30-100 per 1,000,000 inhabitants. Etiology of this disease is not yet explained. There are two hypotheses. The first one is that it is the disorder of ceruloplasmine metabolism caused by insufficient synthesis of normal ceruloplasmine, or synthesis of functionally abnormal ceruloplasmine. The second one is: the block of copper biliar excretion which is the consequence of the liver lysosomes functional defect. Pathogenetic mechanism of disease is firstly long-term accumulation of copper in the liver, and later, when the liver depo is full, its releasing in circulation and accumulation in the brain, cornea, kidneys and bones, which causes adequate pathologic changes. Toxic activity of copper is the consequence of its activity on enzymes, particularly on those with -SH group. There are two basic clinical forms of the disease: liver disease or neurologic disease. Before puberty the liver damage is more frequent, while in adolescents and young adults neurologic form of the disease is usual. The liver disease is nonspecific and characterized by symptoms of cirrhosis and chronic aggressive hepatitis. The only specificity is hemolytic anemia which, in combination with previous symptoms, is important for diagnosis of the disease. Neurologic symptoms are the most frequent consequence of pathologic changes in the basal ganglia. In our patients the most frequent symptoms were tremor (63%); dysarthria, choreoathetosis and rigor (38%); ataxia and mental disorders (31%); dysphagia and dystonia (12%), diplopia, hypersalivation, nystagmus and Babinski's sign (6%). Among pathologic changes in other tissues and organs the most important is the finding of Kayser-Fleischer ring in the cornea as a result of copper accumulation. Its importance for precise diagnosis is great. The diagnosis of the disease is based on anamnesis, clinical examination, specific and nonspecific laboratory tests. The therapy of choice is penicillamine. If we use it early, the result will be good remission in the majority of patients. Late diagnosis or delay in treatment cause death which is the result of bleeding from esophageal varices or basal ganglia disease. Immunologic damages caused by penicillamine demand interruption of therapy and substitution by three-ethyl-tetra-amine (TETA). We also use zinc salts and tetratiomolibdate in therapy of this disease. Pathogenesis, clinical picture and therapy of the disease are based on our own results.
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PMID:[Hepatolenticular degeneration]. 226 49


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