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

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.
 ...
PMID:[Hepatocerebral degeneration]. 166 33

A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 years, her motor coordination had declined and she began to exhibit evidence of dementia, dystonia, dysarthria, and tremor. Motor incoordination, dystonia, and tremor progressed until the patient was wheel-chair-bound. Multiple tests were performed, including metabolic studies, magnetic resonance imaging, bone marrow biopsy, and electron microscopy of the buffy coat. Both bone marrow and buffy coat revealed inclusions in the cytosomes which were granular and osmiophilic. To our knowledge, this is the third case report of inclusion bodies found in patients with manifestations of Hallervorden-Spatz syndrome. These findings suggest that obtaining a buffy coat and bone marrow biopsy may aid in the diagnosis of Hallervorden-Spatz syndrome and ultimately provide information regarding etiology.
 ...
PMID:Osmiophilic deposits in cytosomes in Hallervorden-Spatz syndrome. 170 Jul 20

A 40-year-old man was hospitalized for tremor of the right upper limb, gait disturbance and dysarthria. His course of development had been normal until the age of 14, when difficulties in speaking and walking, and tremor of the upper limb became evident following an episode of fever. His symptoms have been gradually worsening for the past 25 years. His elder sister showed similar clinical symptoms and progressive course of illness. The patient showed no indication of mental retardation. Neurological examination showed dysarthria, slow dyskinetic movement of the tongue, dystonic posture of the left hand, tremor of irregular frequency of the right upper limb, diminished tendon reflex, positive Romberg's sign, diminished vibratory and position sense in the lower limbs and pyramidal signs. Cystometry indicated defective voiding of the bladder. Magnetic resonance imaging of the brain showed bilateral atrophy of the putamina, globus pallidus, caudate nuclei and substantia nigra. MRI showed similar findings in her sister. By electrophysiological and pathological examination, disorders of other systems were evident, such as upper motor neurons, and sensory tract. GM1 and GM2 gangliosidosis appeared the most likely diagnosis, but were ruled out on the basis of the result of lysozomal enzyme assay and rectal biopsy. The present patient's condition may possibly be the result of an unknown metabolic disorder, or a new disease entity affecting various components of the nervous system.
 ...
PMID:[Juvenile-onset dystonia with bilateral atrophy of the basal ganglia on MRI]. 176 49

Rubral tremor is a distinct clinical entity as described by Gorden Holmes. We have reported here a 44 years old woman with rubral tremor appearing about 2 months after an embolic attack of vertebral-basilar artery. On neurological examination there were left homonymous hemianopsia, dysarthria very mild weakness of left upper and lower limbs with clumsiness of her left lower limb and the tremor of the left upper limb. Muscle tone was increased in her left upper limb with dystonic posturing. The tremor of her left upper limb was present at rest with regular rhythm of 2.8 Hz. This tremor included the reciprocal movements such as radial and ulnar flexion of the left wrist and independent movements of different fingers. It was accentuated by postural adjustment and by guided voluntary movements and disappeared during sleep. Surface EMG demonstrated that the grouping discharge was seen not only alternatingly but also synchronously between agonists and antagonists. A brain MRI image revealed multiple lesions including right thalamus and left cerebellum. No lesions were detected in brain stem. On the basis of MRI, it was questionable whether the lesion involved the dentate nucleus in the left cerebellum although the lesion was located at the medulla near the dentate nucleus extending from the cortex. So-called rubral tremor could be generated in lesions of cerebello-rubro-thalamic system without rubral lesion itself.
 ...
PMID:[Symptomatological rubral tremor caused by vertebral-basilar artery embolism]. 180 67

A 42 year old man presented with a slowly progressive gait disturbance, generalised weakness, dysarthria, clumsiness and tremor of his hands, and involuntary jerks. Hexosaminidase A activity in plasma, leucocytes and fibroblasts was considerably reduced, establishing the diagnosis of GM2 gangliosidosis. Clinical examination showed two previously unreported features, a clinically evident sensory neuropathy and internuclear ophthalmoplegia.
 ...
PMID:An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia. 183 93

The clinical features in 100 patients suffered from olivopontocerebellar atrophy (OPCA) and their genetic trait were studied. The diagnosis was verified in all cases with computed tomography, demonstrating the atrophy of cerebellum and brainstem, vascular, neoplastic, infectious and any other organic disorder suspected were excluded. 53 out of 100 cases were sporadic (SOPCA) and the remainder (47 cases) was familial (FOPCA). The age of onset in SOPCA group was 36.1 +/- 14.95 (M +/- SD) in average, while in FOPCA group was 28.9 +/- 11.8. It seems that the symptoms in FOPCA group develop earlier than that in SOPCA group (P less than 0.05). All 47 cases of FOPCA group belong to 36 families in which altogether 166 persons were involved. According to pedigree patterns, there were 26 families inherited as autosomal dominant trait and probably so in another 5 families. Autosomal recessive trait could be confirmed in 2 families, in which the parents of proband were consanguineous, and in 3 other families autosomal recessive trait of inheritance was highly suspected. Anticipation was demonstrated in 26 families with dominant inheritance. Generally, ataxia and weakness of legs develop as initial symptoms in 88% of cases, then followed by dysarthria, and ataxia of upper extremities. The rapid alternating test of hand was impaired in 95% of patients, however, tension tremor was revealed only in 53% of patients. A method for assessing the ataxia quantitatively was proposed, our data suggest that the quantitative alternating test in the upper extremity and the measurement of base-width in lower extremity seem to be valuable in identifying the intensity of ataxia.
 ...
PMID:[Olivopontocerebellar atrophy: clinical analysis of 100 cases]. 186 Mar 80

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.
 ...
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.
 ...
PMID:Neurological and neuropsychiatric spectrum of Wilson's disease: a prospective study of 45 cases. 191 12

Thirty-six patients with Parkinson's disease and medically refractory tremor underwent stereotactic ventrolateralis thalamotomy at the Mayo Clinic between 1984 and 1989. All patients had been or were being treated with carbidopa/levodopa but with unsatisfactory tremor control. Modern stereotactic techniques, including microelectrode recording, were used to treat 36 patients, of whom 31 (86%) had complete abolition of tremor and three patients (5%) had significant improvement. Tremor recurred in two patients within 3 months of surgery; however, the remaining patients suffered no recurrence of tremor during follow-up periods ranging from 14 to 68 months (mean 33 months). Persistent complications (arm dyspraxia, dysarthria, dysphasia, or abulia) were noted in five patients but were a source of disability in only two. It is concluded that thalamotomy in carefully selected patients is a beneficial operation for the control of medically refractory parkinsonian resting tremor.
 ...
PMID:Stereotactic ventrolateralis thalamotomy for medically refractory tremor in post-levodopa era Parkinson's disease patients. 156 56

Patients with cerebellar disease may exhibit tremulous phonation as part of their dysarthria. The results of an acoustic analysis of cerebellar voice tremor in a patient with hereditary ataxia and presenting with a purely cerebellar syndrome are reported. Analysis included computation of speech intensity contours, fundamental frequency contours, and spectral parameters from sustained productions of vowels and voiceless fricatives. Fundamental frequency contours during sustained phonation of vowels showed rhythmic oscillations at a rate of about 3 Hz. No concomitant periodicity could be detected for the parameters characterising voiceless fricative production. The results indicate an impairment of phonatory control in relation to the maintenance of a constant isometric activity of the internal laryngeal muscles. Cerebellar voice tremor may therefore be classified as a form of postural tremor.
 ...
PMID:Cerebellar voice tremor: an acoustic analysis. 201 Jul 64


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>