Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Experience with liver transplantation for patients with Wilson's disease who have major neurological impairment is limited, and this report describes the results obtained in two such patients. The first was a 30-year-old man with a 14-month history of hepatic and neurological impairment. In spite of treatment with d-penicillamine, he developed increasing dysarthria, dysphagia, akinesia and rigidity of all four limbs, and required continuous nursing care. Following transplantation, liver function was almost normal from four weeks onwards, but recovery of neurological function was much slower and was not seen until two to three months after surgery. By four months he was sufficiently mobile to be discharged, and when he returned for assessment at eight months, no abnormal neurological signs were detectable. The second patient was a 27-year-old woman with worsening liver dysfunction for eight years; one year previously she had developed dysarthria, akinesia, a fine tremor and moderate rigidity of all limbs as well as marked psychological impairment. There was no improvement on treatment with d-penicillamine or trientine, but as liver function returned to normal two months after liver grafting, her neurological and psychological function began to improve so that by three months she could be discharged.
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PMID:Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation. 332 13

Nineteen caisson workers had been exposed to metallic mercury vapours while digging tubes underneath the first district of Vienna (exposure between 470 and 2440 min; mean 1621 min). The blood mercury values on admission were between 29 and 166 micrograms/l (mean 75 +/- 34 micrograms/l). The main findings reported are clinical neurologic symptoms, psychic complaints, neurographic results and autonomic parameters (cardiovascular reflexes): 47% complained of headache and tiredness, 37% showed tremor and suffered from sleep disturbances, 26% showed hypersalivation, 16% changes in handwriting, and 11% slight dysarthria. The cardiovascular reflexes (autonomic parameters) were abnormal in 7 of 12 patients. On neurography the distal latency (median nerve) was pathologic in 47%, the distal latency (peroneal nerve) was pathologic in 26%, the antidromic sensory nerve conduction velocity (median nerve) was abnormal in 10%, the motor nerve conduction velocity, compound amplitude and vibratory threshold were normal.
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PMID:[Neurologic symptoms in inhalation poisoning with metallic mercury]. 340 53

Twenty patients with tongue tremor associated with essential tremor are reported. Patients were unaware of the tongue tremor, and voice disturbance was a complaint in only one patient. Three patients had an isolated tongue tremor. Hand tremor was present in 16 patients. Dystonia, myoclonus, and tremor of other body parts were present in some patients. Three patients had a mild-to-moderate dysarthria. The frequency of tongue tremor (4-8 Hz) was identical to hand tremor. The intravenous infusion of ethanol suppressed tongue tremor. Therapy with propranolol, primidone, or clonazepam also reduced tongue tremor amplitude. Tongue tremor is a common finding in some essential tremor patients but often there are no symptoms.
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PMID:Essential tongue tremor. 350 57

The presenting symptoms of Wilson disease and its natural history as related to age are described based on 283 cases collected in Japan. The disease presented with a variety of signs and symptoms; the most frequent were in order of frequency jaundice, dysarthria, clumsiness, tremor, drooling, gait disturbance, malaise and arthralgia. The mean age at onset of the disease was 12.0 years. Hepatic and osteoarthral symptoms developed early and neurological symptoms late. Fifty-eight cases developed neurological symptoms only, 28 cases had hepatic symptoms only, and in 26 cases hepatic symptoms were followed by neurological symptoms. A higher mortality rate was observed in hepatic, hepato-haematological and hepato-renal cases mainly due to acute hepatic failure resulting in death only a few weeks after onset. Cases having only neurological symptoms showed a more favourable prognosis with a longer survival.
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PMID:Presenting symptoms and natural history of Wilson disease. 359 45

The motor score with and without levodopa was estimated in 193 parkinsonian patients with variable length of evolution. The effect of levodopa on akinesia, rigidity, and tremor remained quite stable during the course of the disease. In contrast, the aggravation of gait disorder, postural instability, and dysarthria was more severe, with decreased percentage of improvement on levodopa in patients with longer evolution. It is suggested that aggravation of Parkinson's disease mainly results from increasing severity of cerebral nondopaminergic lesions.
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PMID:Does long-term aggravation of Parkinson's disease result from nondopaminergic lesions? 362 54

A 29-yr-old man with neurological symptoms that included tremor, dysarthria, and loss of consciousness was diagnosed as having variegate porphyria, because of increased urinary excretion of delta-aminolevulinic acid, porphobilinogen, uroporphyrin, and coproporphyrin, and increased fecal uro-, copro-, and protoporphyrins. He showed marked retention of indocyanine green (R15 min: 53%-78%) and bromosulfophthalein (R45 min: 24%-10%) as well. The kinetic analysis revealed that both hepatic uptake and hepatic excretion were decreased for both dyes. Results of other liver function tests were unremarkable except for intermittent hyperbilirubinemia (0.7-3.3 mg/100 ml), of which the ratio of conjugated and unconjugated fraction was between 0.7 and 1.2. Binding of serum protein and indocyanine green or bromosulfophthalein was normal. An angiographic and scintigraphic study of the liver was normal. A minimal deposition of hemosiderin pigment was found in liver biopsy specimen without other abnormalities. Deposition of porphyrin was not present in the liver. Plasma exchange and erythrocytapheresis did not show any beneficial effects on the clinical and laboratory abnormalities of the patient. A possible relationship between variegate porphyria and defective hepatic anion transport is discussed.
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PMID:Defective hepatic anion transport in variegate porphyria. 367 99

Xeroderma pigmentosum is an unusual neurocutaneous disorder. Recent studies have classified patients with xeroderma pigmentosum into 10 groups by somatic cell hybridization methods. In this report we describe 32 patients with Group A xeroderma pigmentosum, including 1 patient with an atypical case, who were assessed for neurological complications. Of these patients, 17 had microcephaly, 13 short stature, and 21 mental retardation. In patients over 7 years of age, sensorineural deafness and spinocerebellar signs such as nystagmus, dysarthria, tremor, and ataxia were frequently observed; no patients below 7 years of age had such neurological complications. Electroencephalographic studies revealed abnormal slow and low voltage background activity. Two patients had focal abnormal discharges, one of whom developed versive seizures. Cranial computed tomographic scans revealed abnormalities, including ventricular dilatation, cerebral atrophy, cerebellar and brainstem atrophy, and cranial bone thickening. A patient with an atypical case of Group A xeroderma pigmentosum had less skin and neurological involvement, and higher levels of postultraviolet colony-forming ability and host cell reactivation than did a typical Group A case. It is possible that these less severe cytological findings are responsible for the less severe skin lesions and neurological complications noted clinically.
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PMID:Neurological manifestations in xeroderma pigmentosum. 374 Aug 15

Thirty-one patients with Wilson's disease were evaluated with detailed neurologic and medical examinations. Mean age (+/- SD) at onset was 21 +/- 5 years and at examination was 28 +/- 6 years. Of the 90% of patients who were first treated with penicillamine, 31% deteriorated initially despite therapy, and half never recovered to pretherapy baseline. At the time of our evaluations, the most common neurologic findings were dysarthria (97%), dystonia (65%), dysdiadochokinesia (58%), rigidity (52%), gait and postural abnormalities (42%), and tremor (32%). Chorea and dementia were rare. Twenty-two patients underwent magnetic resonance imaging. All but one of the 19 symptomatic patients had abnormal scans. The three asymptomatic patients had normal scans. Most lesions were seen in the caudate, putamen, subcortical white matter, midbrain, and pons. Generalized brain atrophy was also common. Lesions were less common in the thalamus, cerebellar vermis, midbrain tegmentum, globus pallidus, red nucleus, and dentate nucleus. Dystonia and bradykinesia correlated with putamen lesions, and dysarthria correlated with both putamen and caudate lesions.
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PMID:Clinical assessment of 31 patients with Wilson's disease. Correlations with structural changes on magnetic resonance imaging. 382 91

An autopsy case of Shy-Drager syndrome preceded by urinary disturbance for over 20 years was reported. A 43-year-old woman was admitted to our hospital because of urinary disturbance and orthostatic hypotension. At the age of 19 she developed urinary disturbance with polyuria and retention. These symptoms were getting worse with years, and at the age of 33 she was diagnosed to have neurogenic bladder of uninhibited type. During her hospital course her symptom became worse, and by the age of 42 she showed marked dysarthria, disturbance of smooth pursuit eye movement, Horner's syndrome, marked rigidity and tremor of four extremities, generalized hyperreflexia, marked limb and truncal ataxia, neurogenic bladder and orthostatic hypotension. Serial brain CT scan revealed progressive brain stem and cerebellar atrophy with clinical course. Severe autonomic nervous system dysfunctions were also documented. She died of respiratory failure at the age of 43. On autopsy, brain stem and cerebellum showed marked atrophy macroscopically. Microscopically marked depletion of neuron was seen in the substantia nigra, pontine nuclei, inferior olive, Purkinje cells, the intermediolateral column of spinal cord and Onuf's nucleus of S2. Although numerous cases of Shy-Drager syndrome have been reported in the past, there is no case which developed this syndrome after urinary disturbance of over 20 year's duration. We should be alert to observe the cases with longstanding urinary disturbances in order to not overlook degenerative disorders as exemplified in this case.
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PMID:[An autopsy case of Shy-Drager syndrome preceded by a urinary disturbance for over 20 years]. 382 40

A case of toxic leucoencephalopathy induced by 5 FU derivatives is reported. A 46-year-old woman was diagnosed as having breast cancer, and radical mastectomy was performed on May, 1982. After operation, she was given irradiation and 5FU derivative (tegafur or carmofur) 600 mg and Nolvadex 20 mg (tamoxifen citrate) were administered every day. After taking the medication for a month, she began to stagger and developed a tremor in both arms. She was admitted to our hospital on August 16, because she showed evidence of dysarthria and memory disturbance in addition to her initial complaints. Soon after admission, she developed akinetic mutism, and metastasis in the brain stem was suspected. In spite of her severe condition, she was given radiation over the posterior fossa and continued the medication. On September 22, CT disclosed low density area in the centrum semiovale bilaterally. She died of DIC on November 30. An autopsy was performed. The brain weight was 1110 g and the outer surface of the brain was normal. In frontal cut surfaces stained with K.B., bilateral degeneration of the centrum semiovale was apparent. Microscopically, the degree of myelin degeneration was stronger than that of axon, and numerous fatty granular cells were found in the degenerated area. There were no bizarre shaped astrocytes, inclusion body or cellular infiltration. Fibrillary gliosis was scanty. No metastasis was found in the central nervous system or other organs. Based on these pathological findings and clinical history, toxic leucoencephalopathy induced by 5 FU derivatives was suggested.
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PMID:[A case of toxic leucoencephalopathy induced by 5FU derivatives]. 393 66


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