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)

We report a right-handed 78-year-old man with early onset parkinsonism. The patient had an onset of micrographia at 23 years of the age in 1939. Seven years later he started to drag his right foot, and at 38 years of age, he walked with small steps with festination. Tremor was also present in his right hand. His daily life was independent as a otorhinolaryngologist. He visited our clinic on March 24, 1977 when he was mentally sound and showed mild parkinsonism consisting of masked face, stooped posture, small step gait, bradykinesia, and right side dominant rigidity and tremor. He showed good response to trihexyphenidyl and amantadine HCl. Two month later, he developed dyskinesia and some worsening of parkinsonism, and was admitted to our hospital for the first time. He was treated with 400 to 600 mg/day of levodopa/ carbidopa. He showed marked improvement, however, dyskinesia remained in his mouth. He was doing well until 77 years of age (June of 1993) when he developed hallucination and motor fluctuations. He was admitted again to our hospital on June 22, 1993. On admission, he was alert and appeared mentally sound. However, Hasegawa dementia scale was 18/30. Upward gaze was slightly restricted (3/5). Voice was somewhat small but no masking was noted. His posture was stooped and the gait was of small step. Dyskinesia was noted during walk. No rigidity nor tremor was noted. Deep tendon reflexes were lost but no sensory loss or motor weakness was noted. Routine laboratory studies were unremarkable. A cranial CT scan revealed only mild to moderate cortical atrophy. Motor and sensory conduction velocities were within normal limits, however, motor action potentials could not be obtained with stimulation to the right common peroneal nerve. He was treated with 600 mg/day of levodopa with carbidopa, 100 mg of amantadine HCl, 300 mg of Dops, and 25 mg of tiapride. He continued to show motor fluctuations, and was discharged on July 23, 1993. Since then his motor functions had become progressively worse with frequent falls, but he was still able to walk without support. On October 3 of 1994, he went to bed as usual. On the next morning, he was found dead in his bed at 9: 30. The patient was discussed in neurological CPC, and the chief discussant arrived at the conclusion that the patient had young-onset Parkinson's disease with Lewy bodies in the substantia nigra. Opinions were divided between Parkinson's disease and Lewy body negative young onset parkinsonism. Postmortem examination revealed obstruction of the trachea by aspirated foods, and the cause of death appeared to have been suffocation by the foods. Macroscopically, the external appearance of the brain was unremarkable except for slight frontal atrophy. The substantia nigra showed depigmentation in the lateral part, but the pigmentation of the medial part was well preserved. Upon histologic examination, the number of pigmented neurons in the dorsomedial part was well preserved. In the lateral part, pigmented neurons were well preserved in the dorsal area, however, in the ventral area, only non-pigmented neurons were seen; they appeared to be neurons in the pars reticulata. No gliosis was seen in any of the nigral areas. No Lewy bodies were seen in the remaining neurons. So-called immature neurons with rounded shape without neuromelanin could not be detected. The locus coeruleus neurons were well preserved. The putamen and the other basal ganglia structures were also intact. Slight myelin pallor was noted in the subcortical white matter, however, otherwise cerebral cortices were normal. The histology of this patient is unique in that only the ventrolateral part of the substantia nigra showed abnormal finding consisting of lack of pigmented neurons without gliosis. It is not clear whether the nigral change represents degeneration or a congenital "hypoplasia'. To our knowledge, such a unique pathology of the substantia nigra has not been reported in the literature. Our patient ma
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PMID:[A 78-year-old man with young onset parkinsonism and sudden death]. 867 9

We report a 32-year-old man who developed cerebellar ataxia and a posterior fossa mass 12 years after the radiation therapy for a cerebellar arteriovenous malformation (AVM). The patient was well until 19 years of the age when he had an acute onset of vertigo and vomiting. A spinal tap was performed and the CSF was bloody. He was admitted to another hospital where an arteriovenous malformation was found in the cerebellum by angiography. Four years after the onset, he developed tingling sensation in the distribution of the second division of the right trigeminal nerve. He was admitted to the neurosurgery service of our hospital where the cerebellar AVM was confirmed. He was transferred to University of California where Bragg peak stereotaxic radiotherapy was successfully performed; this utilizes high energy alpha-ray produced by a cyclotron. Three years after the radiotherapy, marked reduction in the size of the AVM was confirmed by angiography. Twelve years after the onset of his initial symptom, he noted unsteadiness of gait. He was readmitted to our neurosurgery service where obstructive hydrocephalus was found. He was treated by ventriculoperitoneal shunting and placement of a Ommaya reservoir. After these therapy, he noted marked improvement in his gait and ataxia. However, in 1993, his unsteadiness of gait recurred, and he was again admitted to our neurosurgery service on June 20, 1993. On admission, T1-weighted MRI revealed a slightly low signal intensity mass lesion in the right cerebellar hemisphere compressing the brain stem; a spotty high signal intensity lesion and another small low intensity lesion were seen within the mass. Vertebro-basilar angiograms revealed upward displacement of the superior cerebellar arteries. No arteriovenous nidus was visualized. On July, 3rd, the cyst was surgically drained and the Ommaya reservoir was removed. Post-operative course was uneventful, however, he developed head tremor after the surgery. Neurologic examination on July 20, 1993 revealed an alert and well oriented man in no acute distress. General physical examination was unremarkable. Neurologic examination revealed no dementia; higher cerebral functions appeared intact. The optic discs were flat, and visual fields were intact. Ocular movements were full but convergence was restricted. Horizontal gaze nystagmus was noted more in the right lateral gaze. Pupils were intact. Facial sensation and facial muscles were intact. Hearing was normal. His voice was of nasal quality. Pharyngeal reflex was diminished. The tongue showed deviation to the left without atrophy. Head tremor at 5 c/s was noted. He was able to stand with support but was unable to walk. No muscle atrophy or weakness was noted. The finger-to-nose and the heel-to-knee tests showed dysmetria and decomposition more on the right. Rapid alternating movements were ataxic on the right. Muscle tone was diminished on the right. Muscle stretch reflexes were normally elicited and were symmetric. The plantar response was flexor bilaterally. Sensation was intact. On July 21, a posterior fossa exploration was performed. After the surgery, he was treated with 30 mg/day of alotinolol which showed no effect on his head tremor. He was then treated with gradually increasing doses of clonazepam; when he received 8 mg/day of clonazepam, his tremor showed marked improvement. He was discussed in a neurologic CPC on the nature of the posterior fossa lesion and his tremor. Opinions were divided between delayed radiation necrosis and a radiation-induced brain tumor. The chief discussant arrived at the conclusion that the patient had delayed radiation necrosis compressing the brain stem and cerebellar hemispheres. Regarding the nature of his tremor, he thought that his head tremor was of cerebellar type of postural tremor. Histologic examination of the biopsied specimen revealed accumulation of relatively fresh blood constituents in the deep area of the cerebellum forming a mass. Most of the
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PMID:[A 32-year-old man who developed a posterior fossa mass 12 years after the radiation therapy for cerebellar arteriovenous malformation]. 867 25

We report a 65-year-old man with parkinsonism, supranuclear gaze palsy, and dementia. The patient was well until 58 years of the age (1984) when he noted an onset of tremor in his right hand. He visited our neurology service two years after the onset; neurologic examination at that time revealed moderate restriction in down ward gaze, horizontal gaze nystagmus in left and right gaze, stooped posture with loss of arm swing when he walked, slight rigidity in the neck and the right upper and lower extremities, and resting tremor in his right hand and foot; mentation was intact. He was treated with 600 mg of levodopa with carbidopa; his tremor partially improved. He received left Vim thalamotomy on March 14 of 1987. His tremor disappeared after the thalamotomy. Post-operative course was complicated by transient clouding of consciousness due to subdural hematoma which developed after the surgery. Six months after the surgery, he noted increase in the unsteadiness of gait; he also experienced urinary incontinence once in a while, and he became mentally dull. In November of 1988, he had episodes of stiffening of his body. Although his spontaneous speech was very much reduced, he repeatedly hummed a same tune; no one could make him stop humming. In June of 1989, he was totally unable to move his eyes in the vertical direction. He was hospitalized to another hospital in May of 1990 where he died six month after admission because of pneumonia. The clinical course of this patient was characterized by the onset with parkinsonian resting tremor, and supranuclear gaze palsy and dementia in the later course. The patient was discussed in a neurological CPC and the chief discussant arrived at the conclusion that the patient had an overlap syndrome of progressive supranuclear palsy (PSP) and diffuse Lewy body disease. Majority of the participants thought that the patient had progressive supranuclear palsy, but many of them had an impression that parkinsonian tremor responding to levodopa as the initial symptom for PSP is rather unusual. Postmortem examination revealed severe loss of neurons in the substantia nigra, the globus pallidus, and the subthalamic nucleus with reactive gliosis; formy spheroids were seen in the substantia nigra, however, no Lewy bodies or neurofibrillary tangles were observed. Moderate neuronal loss was also seen in the dentate nucleus of the cerebellum. In addition, the precentral gyrus showed moderate neuronal loss, astrocytosis, and spongy change in the second layer; ballooned neurons were seen in the third and the fifth layers. Histologic characteristics were consistent with the pathologic diagnosis of corticobasal degeneration.
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PMID:[A 65-year-old man with Parkinsonism, gaze palsy, and dementia]. 867 36

We report a right-handed 62-year-old man with early onset familial parkinsonism. The patient was well until 24 years of the age when he noted an onset of resting tremor in his right hand. During the next four years, he noted rigidity, bradykinesia, and difficulty in walking. He was seen in another hospital at 28 years of the age, where he received left pallidotomy. Rigidity on the left side showed marked improvement. He received right pallidotomy at age 30 years. He developed right hemiplegia after this surgery. He was admitted to our hospital in March, 1983 when he was 51 years of the age. He was treated with levodopa but improvement was rather of minor degree. He was transferred to another hospital, but his motor disturbance progressed slowly, and was admitted again to our hospital in November 1990. He had 6 siblings 4 of whom including himself suffered from parkinsonism. No consanguinity was noted in parents. On admission, he appeared chronically ill but the general physical examination was unremarkable. Neurologic examination revealed an alert and mentally sound man. Hasegawa dementia scale was 28.5/32.5. Upward gaze was slightly restricted (3/5). Cranial nerve examination revealed oculogyric crisis, apraxia of eyelid opening, masked face, and small voice. He was able to stand with support; his posture showed left-ward leaning. He had right hemiparesis with moderate weakness. He showed marked bradykinesia and moderate rigidity in his left upper extremity. Fine postural tremor was noted in the left hand. Deep tendon reflexes were diminished in the upper extremities. No Babinski sign was noted. Pain sensation was somewhat diminished on the right side. Results of routine laboratory examination were unremarkable. Cranial CT scan revealed atrophy in the frontal lobe, particularly in the prefrontal area. In addition, MRI revealed T1-and-T2-low signal intensity lesions in the right ventral pallidal region and in the left ventrolateral thalamic-hypothalamic areas. He was treated with 600 mg of levodopa with benserazide and 22.5 mg of bromocriptine with mild to moderate improvement in his bradykinesia and rigidity. He was discharged in January 1991. His clinical course was complicated by intestinal obstruction in October, 1994. He was admitted to another hospital where he was operated on the obstruction on November 5, 1994. The sigmoid colon was markedly dilated but no mass was found. Postoperative course was uneventful until November 18, 1994 when he was found dead in his hospital room shortly after 4 am. The patient was discussed in neurological CPC, and the chief discussant arrived at the conclusion that the patient had young-onset familial Lewy body-negative parkinsonism. Opinions were divided between Lewy body-positive familial Parkinson's disease and Lewy body negative young onset parkinsonism. Postmortem examination revealed aspiration pneumonia, which appeared to be the cause of his death, in the right lung. Neuropathologic examination revealed loss of malanized neurons in the substantia nigra and the locus coeruleus. In the substantia nigra, neuronal loss was particularly severe in the ventrolateral area. No Lewy bodies were seen. The dorsal motor nucleus of the vagal nerve was well preserved. Stereotaxic lesions involved bilateral thalamic areas. This patient appears to represent a case of autosomal recessive juvenile parkinsonism (AR-JP). Early onset, superb response to levodopa, sleep effect, and easy development of dyskinesias and motor fluctuations characterize AR-JP. The reason why this patient did not show these clinical features is probably bilateral sterotaxic surgeries. Particularly, the second surgery was complicated by right hemiparesis. His siblings who developed parkinsonism showed typical clinical features of AR-JP.
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PMID:[A 62-year-old man with familial parkinsonism with the onset at 24 years of the age]. 870 64

A 34-year-old man presented with a 30-year history of spasmodic dysphonia. He developed a speech disturbance 1 month after a closed head injury due to a fall. Sighing, coughing, and crying were normal. He had a tremor of the right hand when he drew a vertical line. His out-stretched right hand had a minimal dystonic posture with occasional jerks of the fingers. T1-weighted axial brain MRI study showed a low signal intensity lesion at the putamen; coronal and axial T2-weighted MRI brain scans showed a high and low signal intensity lesion confined to the middle part of the ventrolateral putamen. Damage to the ventrolateral putamen may have caused abnormal voluntary control of the laryngeal muscles.
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PMID:Spasmodic dysphonia associated with a left ventrolateral putaminal lesion. 879 90

Our previous studies have shown that the actin-binding protein hisactophilin from Dictyostelium discoideum is a candidate for organizing the actin cytoskeleton at the plasma membrane in a pH-dependent manner. To further characterize this interaction we isolated hisactophilin overexpression (hisII+) and hisactophilin minus (his-) mutants. D. discoideum contains two hisactophilin isoforms; both genes are independently transcribed and carry a short intron at the same position of the coding region. The deduced amino acid sequence of hisactophilin II showed a characteristic high content of 35 histidine residues out of a total 118 amino acids. After transformation of Dictyostelium AX2 wild-type cells with a genomic fragment designed to inactivate the hisactophilin I gene we obtained hisactophilin II overexpressing mutants (hisII+). Multiple integration of the vector led to strong overexpression of hisactophilin II which even outnumbered the actin concentration by a factor of two. Hisactophilin II protein showed the same biochemical properties as hisactophilin I during purification and in its pH-dependent binding to F-actin; as shown by mass spectrometry the hisactophilin II fraction was almost completely myristoylated despite of this high overexpression. The inactivation of both hisactophilin genes was achieved by gene replacement with a vector construct encompassing parts of gene I and gene II connected by a geneticin cassette. The properties of the hisII+ and his- cells with regard to growth in shaking culture and on Klebsiella plates, development, chemotaxis and morphology were not affected under normal conditions. However, the hisII+ transformants revealed a significant difference to wild-type cells and his- cells when the cytoplasmic pH was lowered by diethylstilbestrol (DES), a proton pump inhibitor. HisII+ cells were more resistant to the acidification; in contrast to AX2 wild-type cells and his- cells they did not form plasma membrane protrusions, showed an increase in F-actin content, and contained large clusters of F-actin. Lowering the internal pH caused an accumulation of hisactophilin below the plasma membrane. The fact that cells deficient in hisactophilin again lose resistance to acidification is in good agreement with the hypothesis that hisactophilin functions as a pH sensor at the plasma membrane by reversibly connecting the membrane with the actin cortical network upon local changes of the proton concentration.
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PMID:Structure/function studies on the pH-dependent actin-binding protein hisactophilin in Dictyostelium mutants. 883 5

Paralytic tremor (pt), a hereditary neurological disorder of rabbits is a recessive, X-linked point mutation of the gene for proteolipid protein (PLP) biosynthesis. This mutation results in substitution of histidine by glutamine in the PLP molecule and produces severe hypomyelination. In the present study, we investigated the developmental expression of myelin-oligodendrocyte-specific glycolipid markers by means of ELISA assay. While immunoreactivity with antibodies recognising proligodendroblast (POA) antigen was unchanged, only minute amounts of the other glycolipid markers characteristic for more advanced stages of OLs maturation, such as 04 and 01 antigens, were expressed in pt brain. The degree of down-regulation was similar to that for MBP. Concomitantly, the level of in situ expression of the mutated PLP gene mRNA in glial cells of 14 day old pt brain was found to be as high as in age-matched controls. Northern blot analysis of developmental PLP gene expression showed a significant deficit of this message in pt brain, but only at more advanced developmental stages. However, aside from changes in myelin structure, no changes in glial cell number or morphology were evident by light microscopic examination of pt mutants. In contrast, electron microscopy revealed substantial abnormalities in pt oligodendrocyte cytoarchitecture, indicating functional impairment of intracellular transport and utilisation of myelin constituents. Thus, only POA expression is positively correlated with the unchanged content of OLs in pt brain, whereas decreases of 04 and 01 antigens, together with MBP immunoreactivity, are indicators of the degree of hypomyelination. Furthermore, oligodendrocyte differentiation appears to proceed normally in pt mutant brain up to the stage of PLP gene expression. Then, due to intracellular accumulation of this abnormal gene product, synthesis of PLP as well as the other myelin-specific constituents is inhibited by a "feed-back" control mechanism.
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PMID:Oligodendrocyte development in PLP "pt" mutant rabbits: glycolipid antigens and PLP gene expression. 884 95

We report a 19-year-old man with mild form of phenylketonuria. The diagnosis was first made when he was examined for the tremor at 19 years of age. He had not received the Guthrie's screening test for phenylketonuria in infancy. His development of speech and walking was almost normal. Action and positional tremor developed at two years of age, and psychomotor deterioration at five years. His intelligence was of borderline, and he entered the special class for the mentally retarded at elementary school and junior high school. His skin and iris were less pigmented than those of Japanese young adults, and his hair was rather reddish. He had mild action tremor. He showed mild mental retardation, and the WAIS was 46 in PIQ, 70 in VIQ and 53 in total IQ. T2-weighted MRI of the brain showed high signal of the deep white matter around the posterior conus of the lateral ventricles. EEG showed paroxysmal abnormalities. Serum aminogram disclosed a marked elevation of phenylalanine. Analyses of pteridine in the serum and urine disclosed a low ratio of neopterine/biopterine. An assay of the dehydropteridine reductase in erythrocytes was normal. These laboratory data indicated that his condition was caused by a deficiency of phenylalanine hydroxylase deficiency.
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PMID:[A case report of mild from of phenylketonuria]. 890 94

It is estimated that 10-20% of patients with multiple sclerosis (MS) have a chronic progressive (CP) course characterized by an insidious of neurological deficits followed by steady progression of disability in the absence of symptomatic remission. No therapeutic modality has shown specific efficacy in the treatment of patients with CP MS and there are no data to indicate that any pharmacologic or other modality alters the clinical course of CP MS. Treatment with picotesla electromagnetic fields (EMFs) is a highly effective modality for the symptomatic management of MS including the chronic progressive form. In addition, this treatment also appears to alter the natural course of the disease in CP patients. A 36 year-old man experienced, at the age of 31, insidious weakness in the legs and several months later developed difficulties with balance with ataxia of gait. His gait abnormality progressed slowly over the following years and at the age of 35 he was severely disabled with spastic paraparesis and ataxia using a rolling walker for ambulation and a scooter for longer distances. In particular, his disability had progressed rapidly over the six months preceding the initiation of treatment with EMFs. He as classified have CP MS and his prognosis was considered extremely unfavorable due to the degree of cerebellar and pyramidal tract involvement and the rapid course of deterioration. In July 1995 the patient began experimental treatment with EMFs. While receiving three treatment sessions a week over 12 months he experienced improvement in cerebellar functions such as gait, balance and tremor as well as bowel and bladder functions, mood, sleep and cognitive function and resolution of diplopia, blurring of vision, dysarthria, paresthesias in the hands, and fatigue. Most remarkably, there was no further progression of the disease during the course of magnetic therapy. This case illustrated that treatment with EMFs, in addition to producing symptomatic improvement, also reverses the clinical course of CP MS.
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PMID:Treatment with electromagnetic field alters the clinical course of chronic progressive multiple sclerosis--a case report. 900 66

We report a 70-year-old man with progressive gait disturbance and gaze palsy. The patient was well until summer of 1991 when he was 66-year-old, when he noted a gradual onset of difficulty in gait and looking downward. He was evaluated in our hospital in May, 1994 when he was 69-year-old. On admission, he was alert but markedly demented with disorientation and memory loss. Constructional apraxia and dressing apraxia were noted. He had difficulty in gaze to all directions; he could move his eyes only 20% of the normal range. Oculocephalic response was retained. He had small voice and some dysphagia. Other cranial nerves were unremarkable. He could not walk unsupported. Marked retropulsion was noted in which he would fell down spontaneously upon standing unless supported. Moderate to marked rigidity was noted in the neck, trunk, and in the legs, however, in the upper extremities, rigidity was only mild. No tremor was noted. Deep reflexes were symmetrically exaggerated with ankle clonus bilaterally. Plantar response was flexor. Sensation was intact. Routine laboratory tests were unremarkable, however, his cranial MRI showed moderate to marked fronto-temporal atrophy and moderate midbrain and pontine tegmental atrophy. The third ventricle was markedly dilated. He was discharged for out patient care, however, his dysphagia had become progressively worse, and he suffered from frequent bouts of pneumonia. He was admitted to our service on October 17, 1994. His neurologic examination was essentially similar except that he showed more advanced dementia. He was still able to stand with support. Gastrostomy was placed on October 25. Post-operative course was unremarkable. He was discharged on November 1. His motor disturbance showed gradual deterioration, and by the May of 1995, he became bed-ridden, and was admitted to another hospital on May 30, 1995. He was almost totally unable to move his eyes, but oculocephalic response was still elicited. Marked truncal and limb rigidity were noted. He vomited coffee-ground substance on October 31, 1995, and developed hypotension. The subsequent course was complicated by pneumonia and he expired on November 24. The patient was discussed in a neurological CPC. Majority of the participants thought that the patient had progressive supranuclear palsy, but some participants thought that the patient had corticobasal degeneration because cortical atrophy was so marked. Post mortem examination revealed atrophy of the frontal and parietal lobe. The brain stem was atrophic particularly in the tegmental area including the midbrain. The substantia nigra showed marked neuronal loss and globose type neurofibrillary tangles in the remaining neurons. The neurons in the locus coeruleus was well retained, however neurofibrillary tangles were seen. In addition, the cerebellar dentate nucleus, the inferior olivary nucleus, and the internal globus pallidus showed marked neuronal loss and neurofibrillary degeneration. In the frontal cortex, although macroscopic examination showed some atrophy, microscopic examination failed to show neuronal loss or gliosis. The pathologic findings were consistent with the diagnosis of progressive supranuclear palsy.
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PMID:[A 70-year-old man with a progressive gait disturbance and gaze palsy]. 902 10


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