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)

The patient was a 64-year-old woman who showed muscle weakness and tremor of upper extremities and gait disturbance at the age of 62 years. The symptoms progressed and she was admitted to our hospital. Neurological examination revealed muscle weakness, muscle atrophy and fasciculation bilaterally in the upper extremities. The deep tendon reflexes were reduced in the upper extremities and increased in the lower extremities, but Babinski's sign was not present. There was mild hand tremor at rest (right greater than left). Muscle rigidity was also evident. Her gait was small-stepped and her trunk was bent forward. She showed hypomimia, but no dementia was detected. She died of respiratory failure 7 months after admission. The duration of the illness was about 2 years. At autopsy, macroscopic examination showed depigmentation of the substantia nigra and locus ceruleus, and atrophy of the anterior roots of the spinal cord. Microscopic examination revealed a few senile plaques in the temporal cortex. In the substantia nigra, the number of melanin-containing cells was decreased in its central parts. A few Lewy bodies were found in some of the remaining neurons, and melanin pigment migrated into the parenchyma. In the locus ceruleus and dorsal motor nucleus of vagus, abundant Lewy bodies and mild astrocytosis were seen. A few Lewy bodies were also seen in the nucleus raphe, nucleus basalis of Meynert and hypothalamic nuclei. Severe neuronal loss of the anterior horn cells was observed in the cervical segment, and to a lesser degree, in the lumbo-sacral segments. segments.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Motor neuron disease with Parkinson's disease--case report]. 208 32

Two cases of the X-chromosome-linked adult bulbospinal neuronopathy are reported. Patients displayed major signs of the disease: the onset at adult age, slowly progressing involvement of limb, facial and tongue muscles, light bulbar disorders, generalized fasciculation and neuronal signs in EMG investigation. Observed were also bilateral gynecomastia, fascicular tremor. Clinical differences in the 2 patients could be accounted for by different expression of the pathological gene.
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PMID:[X chromosome-linked bulbospinal neuronopathy in adults]. 272 35

A 64-year-old man was admitted to our department because of muscle cramp, atrophy and weakness of the limbs together with difficulty in walking, which had gradually progressed from age 60. About 1 year prior to admission, he had noticed hand tremor and gynecomastia. On admission, neurological examination revealed diffuse muscle atrophy and weakness of the extremities, which were more obvious on the right side with preponderance in the right leg. Bilateral postural hand tremor was also more prominent on the right hand. Fasciculations were observed both in the extremities and tongue. The remaining cranial nerves and cerebellar functions were intact. Sensation was normal except for slightly decreased vibratory sense in the distal part of the legs. Deep tendon reflexes including jaw jerk were increased with the exception of hyporeflexia of the right leg. Babinski sign was negative bilaterally. Blood examination disclosed slight elevation of CK and fasting glucose level of 110 mg/dl. Glucose tolerance test showed a diabetic pattern. CSF examination showed total protein of 74 mg/dl and IgG of 12 mg/dl. On a series of endocrinological studies, there was no significant elevation of androgen and estrogen both in serum and urine except for slight elevation of serum E1 level. Serum LH and FSH, however, were markedly high, which responded far beyond the normal range following to 0.1 mg injection of LH-RH. These results suggested that gynecomastia might be caused by dysfunction of the hypothalamus-hypophysis system. Brain CT and spine MRI showed no abnormality. Muscle biopsy obtained from the right quadriceps femoris revealed neurogenic abnormalities.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case presenting manifestations of bulbospinal muscular atrophy with senile onset, rapid progression and marked asymmetry]. 275 68

The influence of clonidine on the toxicity produced by two irreversible, organophosphate cholinesterase inhibitors, soman and echothiophate, was studied in mice. At lethal doses, soman produced whole body tremor but no muscle fasciculation; at lethal doses, echothiophate produced muscle fasciculations but no whole body tremor. Pretreatment with clonidine protected against several toxic manifestations of soman, but had little effect on echothiophate toxicity. In addition to its documented effects on acetylcholine metabolism, clonidine was found to be a weak inhibitor of acetylcholinesterase. At certain concentrations, clonidine protected the enzyme from permanent inactivation by soman. These findings indicate that the toxicity of soman and echothiophate reflect primarily central and peripheral actions, respectively, and that clonidine has a much greater protective effect versus the centrally-acting agent. Moreover, direct interactions with acetylcholinesterase may contribute to clonidine protection from cholinesterase inhibitor toxicity.
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PMID:Clonidine protection from soman and echothiophate toxicity in mice. 378 71

Previous studies have shown indirectly that the neuromuscular effects of nonselective cholinesterase inhibitors are mediated through the inhibition of acetylcholinesterase (AChE). To test this hypothesis more directly we studied the effects of the specific inhibitor of AChE, BW 284c51, at the neuromuscular junction of rat diaphragms. BW 284c51 inhibits AChE in a dose-dependent partially reversible manner at all concentrations tested (10(-9) to 10(-4) M). Maximum inhibition was never greater than 92%. The drug increased miniature end-plate potential (MEPP) amplitude and prolonged half-decay time at 10(-7) and 10(-6) M. However, BE 284c51 had no effect on the resting membrane potential at any concentration. BW 284c51 at 10(-7) M reversibly increased MEPP frequency by almost 4-fold. There was a 2-fold increase in the occurrence of giant MEPPs in the presence of BW 284c51. The quantum content (m) of the end-plate potential was increased in 10(-7) M BW 284c51 as were end-plate potential amplitude and quantum size (q). Animals injected subcutaneously with 10 mg/kg of BW 284c51 displayed typical signs of AChE inhibition including salivation, whole body tremor and prostration. Spontaneous muscle fasciculation was more noticeable after in vivo injection of BW 284c51 than after in vitro administration. Furthermore, MEPP frequencies were considerably faster when the drug was injected in vivo than when applied in vitro. The data are discussed with respect to the hypothesis that inhibition of AChE causes presynaptic as well as postsynaptic effects.
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PMID:Presynaptic and postsynaptic neuromuscular effects of a specific inhibitor of acetylcholinesterase. 625 19

Fasciculation of the eyelids was observed in five of eleven children with spinal muscular atrophy (SMA); two had severe SMA and three were of intermediate severity. Three other children with intermediate SMA and the two children with mild SMA did not show eyelid fasciculations. This could provide an additional clinical sign to tongue fasciculation and hand tremor in the diagnosis of SMA in childhood.
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PMID:Fasciculation of the eyelids: an additional clue to clinical diagnosis in spinal muscular atrophy. 648 12

A form of adult onset 'bulbospinal muscular atrophy' of X-linked recessive inheritance is described in 10 patients from eight families. Muscle weakness in the limbs was mainly proximal and developed in the third to fifth decades of life, often preceded by muscle cramps on exertion and tremor of the hands. Weakness and fasciculation of the facial muscles and tongue were prominent. All the patients had gynaecomastia and some were infertile. Two had diabetes mellitus. Motor nerve conduction studies were normal but most patients had small or unrecordable sensory action potentials in the absence of clinical sensory loss. Plasma creatine kinase levels were considerably elevated and muscle biopsies showed neurogenic atrophy together with secondary myopathic changes. The importance of recognising this distinctive disorder in single cases (six of the present series) is emphasised.
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PMID:X-linked recessive bulbospinal neuronopathy: a report of ten cases. 689 Sep 89

beta-Eudesmol, a sesquiterpenol present in Chinese herbs, improved the tetanic contraction impaired by diisopropylfluorophosphate in isolated mouse diaphragm preparations by an inhibition of the regenerative acetylcholine release. The antagonism was enhanced when a small concentration of obidoxime was present. Neither enzyme reactivation nor curare-like action was evident. beta-Eudesmol (300 mg/kg, i.p.) elevated the LD50 of diisopropylfluorophosphate (s.c.) in control mice from 4.2 to 6.4 mg/kg and in mice pretreated with atropine from 7.8 to 10.6 mg/kg. In mice pretreated with atropine and obidoxime, beta-eudesmol showed a greater synergistic effect, increasing the LD50 from 281 to more than 800 mg/kg. beta-Eudesmol also markedly alleviated diisopropylfluorophosphate-induced muscle fasciculation, tremor and convulsion and prolonged the time to death. It is proposed that beta-eudesmol may be added to the standard antidotal regimen (atropine plus obidoxime) for treating organophosphate intoxication.
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PMID:beta-Eudesmol as an antidote for intoxication from organophosphorus anticholinesterase agents. 772 Jul 87

A 70-year-old man was admitted to our hospital because of a 15-year history of walking difficulty, disturbance of sensation in the palm for 2 years and hand tremor for 6 months. On admission, the scapulohumeral muscles showed fasciculation and atrophy. There was action tremor in the upper limb, and the proximal lower limb showed atrophy and weakness. Standing and walking were impossible. Deep tendon reflexes were decreased in lower limbs. Pathologic reflexes were not found. There was distal dominant sensory disturbance, and urination was difficult. Needle EMG showed a neurogenic pattern in 4 all limbs. MCV and F-latency were delayed. SCV in the median nerve and the amplitude in the sural nerve were decreased. Biopsy of the sural nerve revealed both axonal change and demyelination. Biopsy of the quadriceps femoris muscle showed neurogenic change with helper T-cell infiltration. Anti-HTLV-I antibody and ATL-like cells in both blood and CSF were positive. There were HTLV-I provirus DNA with a polyclonal pattern and the type of HLA as HAM. The HTLV-I infection was of the HAM type. As the present patient showed mainly neuropathy without pyramidal signs, was not considered to have HAM.
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PMID:[HTLV-I-associated neuropathy]. 778 27

A rare case of motor neuron disease and involvement of the pallido-luysio-nigral system and brainstem tegmentum is presented. A 51-year-old man developed progressive muscle atrophy with fasciculation predominantly in the shoulder girdle, upper arms, upper back, and neck in addition to hyperreflexia and a positive Chaddock reflex. He also had retinitis pigmentosa, high arched palate, and mild hand tremor. He eventually developed bulbar palsy and died of paralysis of the respiratory muscles 11 years after the onset of his illness. Neuropathological examinations showed prominent neuronal loss and gliosis in the pallido-luysio-nigral system and the tegmentum of the brainstem in addition to the simultaneous involvement of the upper and lower motor neurons. This patient and 6 similar patients are discussed in relation to pallido-luysio-nigral atrophy and the topographic distribution of degeneration in amyotrophic lateral sclerosis.
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PMID:Motor neuron disease with involvement of the pallido-luysio-nigral system and mesencephalic tegmentum. 852 30


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