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)

Hereditary haemochromatosis is characterised by excessive parenchymal iron deposition, particularly in the liver. Usually hereditary haemochromatosis is not associated with neurological symptoms and iron deposition in the brain has not previously been described as a pathological phenomenon. A patient is reported with hereditary haemochromatosis and a syndrome of dementia, dysarthria, a slowly progressive gait disturbance, imbalance, muscle weakness, rigidity, bradykinesia, tremor, ataxia, and dyssynergia. The findings on MRI of a large signal decrease in the basal ganglia, consistent with excessive iron accumulation, indicate a causal relation to the symptoms. Although the neurological symptoms did not improve in our patient, hereditary haemochromatosis should be considered in the differential diagnosis of parkinsonian syndromes, because complications of iron induced organ injury may be prevented by phlebotomy.
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PMID:Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome. 767 67

We described 9 patients who developed acute onset benign transient shuddering-like involuntary movement in elderly people. There was no consciousness disturbance or sensorimotor dysfunction. There were finger tremor, dysarthria, or gait disturbance in some patients. Asterixis was observed in the upper extremities in 2 patients. Duration of an involuntary movement was less than 1 second, and the series of the involuntary movements continued for several days. This state appeared acutely and disappeared within 0.5 -4 days in the natural course without any sequelae. Oral administration of clonazepam was very effective to suppress this tremulousness. Seven of 9 patients developed recurrence. Although the cause of this syndrome remains unknown, we believe that this condition is clinically important for differential diagnosis of acute onset involuntary movements in elderly people.
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PMID:[Clinical analysis of benign transient shuddering-like involuntary movement in elderly people]. 772 98

Minamata disease (M. d.) is methylmercury (MeHg) poisoning that occurred in humans who ingested fish and shellfish contaminated by MeHg discharged in waste water from a chemical plant (Chisso Co. Ltd.). It was in May 1956, that M. d. was first officially "discovered" in Minamata City, south-west region of Japan's Kyushu Island. The marine products in Minamata Bay displayed high levels of Hg contamination (5.61 to 35.7 ppm). The Hg content in hair of patients, their family and inhabitants of the Shiranui Sea coastline were also detected at high levels of Hg (max. 705 ppm). Typical symptoms of M. d. are as follows: sensory disturbances (glove and stocking type), ataxia, dysarthria, constriction of the visual field, auditory disturbances and tremor were also seen. Further, the fetus was poisoned by MeHg when their mothers ingested contaminated marine life (named congenital M. d.). The symptom of patients were serious, and extensive lesions of the brain were observed. While the number of grave cases with acute M. d. in the initial stage was decreasing, the numbers of chronic M. d. patients who manifested symptoms gradually over an extended period of time was on the increase. For the past 36 years, of the 2252 patients who have been officially recognized as having M. d., 1043 have died. This paper also discusses the recent remaining problems.
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PMID:Minamata disease: methylmercury poisoning in Japan caused by environmental pollution. 773 58

Two principal forms of diseases caused by Inkoo and Tahyna viruses were observed, fever (25 pts, 61%) and neuroinfection (13 pts, 31.7%). In 3 (7.3%) subjects the infection was inapparent. Ten patients presented with mixed forms of infection (virus-virus or virus-bacterial). Clinical manifestations were characterized by marked polymorphism and low specificity. The onset was acute with expressed symptoms of infection and weak catarrhal manifestations. Of the patients with the neuroinfectious form of the disease 3 presented with aseptic meningitis, 2 with meningoencephalitis, and 5 with encephalitis. Aseptic meningitis was characterized by a combination of general infectious and moderately expressed meningeal syndromes with weak inflammatory changes in the spinal fluid. Encephalitides were associated with numerous neurological symptoms which manifested on days 3-7 of the illness. These symptoms were asymmetry of nasolabial folds, hemiparesis, dysarthria, dysphagia, generalized tremor, tongue deviation. No significant differences in the clinical manifestations of Inkoo and Tahyna infections were observed.
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PMID:[Neurologic characteristics of diseases caused by Inkoo and Tahyna viruses]. 774 Jul 83

A 64-year-old right-handed man was admitted because of increasing clumsiness of the right hand and difficulty in walking since 8 months earlier. The WAIS revealed verbal IQ 124, performance IQ 104 and full scale IQ 115. Neurological examination revealed slight dysarthria and normal eye movements. The right upper extremity showed Gegenhalten, tremor, dystonic elbow flexion, marked grasp reflex, grasping and groping behavior. Voluntary movements were slow and clumsy on the right side. However, neither ideational nor ideomotor apraxia was observed. Tendon reflexes were slightly exaggerated on the right side. Plantar responses were normal. The patient had difficulty in initiating forward walking and turning movements. Once started, he walked dragging his right foot ahead of the left with short steps. A line on the floor was of no benefit. He could not stride across the line on the floor in front of him. Analysis of gait with floor reaction force revealed that the single step rhythm of his frozen gait was about 1.5 Hz, which contrasted with the high frequency seen in Parkinson's disease. MRI demonstrated atrophy of the frontal and parietal lobes on both sides. 123I-IMP single-photon emission CT demonstrated severe hypoperfusion of the left frontal and parietal lobes. Frozen or shuffling gait is a popular symptom as well as unsteady gait and tendency to fall in corticobasal degeneration. It may result from the frontal lobe dysfunction. Lack of improvement in freezing by the visual input contrasts with Parkinson's disease and may be related to dysfunction of the mesial part of the frontal lobe or the parietal lobe involved in corticobasal degeneration.
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PMID:[Analysis of gait disturbance in a patient with corticobasal degeneration]. 778 Dec 31

We reported a case of crossed cerebello-cerebral diaschisis (CCCD) in olivopontocerebellar atrophy (OPCA). A 49-year-old male was admitted with complaints of titubation, dysarthria and tremor. Examination on admission revealed exaggerated triceps, patella and achilles tendon reflexes on both sides and rigidity in left wrist. Ocular movements were slightly saccadic and speech was scanning or explosive. Finger-nose and heel-knee coordination was poor on both sides (left dominant). Cardiovascular reflex tests showed abnormal findings, suggesting insidious autonomic dysfunction. Brain CT and magnetic resonance imaging (MRI) revealed mild atrophy of the pons and cerebellum. Brain single photon emission computed tomography (SPECT) showed reduced cerebellar N-isopropyl-P-(123I) iodoamphetamine (IMP) uptake more prominent on the left than on the right side. A reduction of 123I-IMP uptake was more striking in the right thalamus, basal ganglia and frontal lobe than on the left side. The cerebellar sign which was left dominant and the left extrapyramidal sign were consistent with the side where reduction of 123I-IMP uptake was more prominent. We suggest that CCCD in our case resulted from transneuronal deactivation in the classic anatomical (cerebello-thalamo-cortical) pathway and dopaminergic (cerebello-basal ganglia-cortical) pathway. There is a possibility that CCCD reflects the development of pathological changes in OPCA.
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PMID:[Crossed cerebello-cerebral diaschisis in olivopontocerebellar atrophy]. 799 98

We reported two cases of acute alcoholic myopathy associated with rhabdomyolysis. The first case was 62 year-old man, who had been drinking every day for 40 years. Following diarrhea, he had psychic symptoms, and was admitted to our hospital. He was in a state of delirium. Tremor in extremities, dysarthria and weakness of lower extremities were observed. Neither swelling nor grasping pain were seen in any muscles. Laboratory data showed severe hypokalemia and high levels of serum muscle enzymes and myoglobin. An increase of lactate and pyruvate was not seen in ischemic exercise test performed at the acute or the recovery phase. It was suggested that glycolysis in muscles was suppressed in this case. The second case was 43 year-old man, who had been drinking every day for 27 years. Rapidly progressive weakness of both lower extremities was seen, and he was admitted to our hospital. Grasping pain of both legs and proximal muscle weakness of extremities were observed. Laboratory date showed normokalemia and high levels of serum muscle enzymes and myoglobin. Muscle biopsy showed no abnormal findings in histology and electron microscopy. Although the pathogenesis of acute alcoholic myopathy is unknown, suppression of muscle glycolysis enzyme caused by ethanol may play an important role in the first case.
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PMID:[Two cases of acute alcoholic myopathy associated with rhabdomyolysis]. 829 65

We report a 20-year-old female with Hallervorden-Spatz syndrome (HSS). This patient is the product of consanguineous parents. She developed genu valgum, tendency to fall and mental deterioration at the age of 6, decrease of the number of spoken words at the age of 14, dysarthria, unsteady gait, postural tremor of the upper extremities, dystonic posture of hands and double incontinence at the age of 16. Her disease progressed slowly. Neurological examination on admission revealed severe mental retardation, optic atrophy, forced grasping, hyperactive tendon reflexes in the upper extremities and bilateral Babinski sign. An extensive laboratory investigation including the leukocyte lysosomal enzymes, serum amino acid analyses, copper studies and ceruloplasmin were almost within normal limits. MRI, T2 weighted images, showed markedly decreased signal intensity in the globus pallidus but substantia nigra and increased signal intensity in diffuse cerebral white matter. T1 weighted images showed marked atrophy of the brainstem and cerebellum. She met the diagnostic criteria for HSS by Swaiman; we diagnosed her as HSS group II. HSS is characterized by the presence of many spheroids in the central nervous system which is similar to neuroaxonal dystrophy (ND). However, clinical and pathological differences exist between HSS and ND, the precise classification of the two conditions has remained controversial. Although there are many reported cases in which both conditions overlap, this is the first reported case that simultaneously demonstrates increased iron deposition in the globus pallidus, marked atrophy of the brainstem and cerebellum and typical clinical course compatible with HSS.
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PMID:[A case of Hallervorden-Spatz syndrome with marked atrophy of the brainstem and cerebellum]. 836 59

Using exploratory factor analysis, we prospectively investigated neuropsychiatric symptoms and structural brain lesions of 47 patients with proven Wilson's disease and identified three subgroups. The first subgroup clinically exhibited bradykinesia, rigidity, cognitive impairment, and an organic mood syndrome and by MRI showed a dilatation of the third ventricle. The second subgroup was characterized by ataxia, tremor, reduced functional capacity, and focal thalamic lesions. The third subgroup showed dyskinesia, dysarthria, an organic personality syndrome, and focal lesions in the putamen and in the pallidum.
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PMID:Wilson's disease: evidence of subgroups derived from clinical findings and brain lesions. 842 74

We report four sporadic cases of cerebellar ataxia associated with hypogonadism. All patients were female. The neurological symptoms appeared in the first three decades. Apart from ataxia, the most frequent features were nystagmus, dysarthria, mental impairment, brisk tendon reflexes, skeletal deformities, peripheral neuropathy, and tremor. Neuroimaging studies showed constant cerebellar atrophy, in some instances associated with involvement of either grey or white cerebral matter. Neurophysiological studies demonstrated an axonal neuropathy. Endocrine evaluation showed heterogeneity of the hypogonadism, which was hypogonadotrophic in one patient and hypergonadotrophic in the other three. One patient had partial deficiency of muscle cytochrome c oxidase. The syndrome appears to be a heterogeneous multisystem disorder and in some cases a mitochondrial metabolism deficiency could be suspected.
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PMID:Heterogeneous findings in four cases of cerebellar ataxia associated with hypogonadism (Holmes' type ataxia). 845 11


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