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)

Sibling cases of familial vitamin E deficiency accompanied by ataxia, polyneuropathy and mental retardation were reported. Case 1 was a 37-year-old male who developed progressive gait disturbance, deformity of the feet and head tremor from childhood, after normal delivery and development of early childhood. On physical examination, he had cataract, high arched palate and pes cavus. Neurological examination revealed mental retardation (WAIS 68), scanning speech, muscular atrophy of the face and extremities with predominance in the lower limbs, absent Achilles tendon reflex, disturbance of superficial and deep sensation predominant in distal limbs, and marked gait ataxia. Ataxia was both cerebellar and sensory in nature. Laboratory data of the blood showed no significant abnormalities including blood glucose and vitamin B12 except a markedly low level of serum vitamin E. The brain CT scan revealed severe cerebellar atrophy and marked dilatation of the cisterna magna and the subarachnoid space around the cerebellum. Motor nerve conduction velocity in the leg was decreased. Biopsy specimen from the quadriceps muscle showed neurogenic atrophy. Sural nerve biopsy revealed decrease in large myelinated fibers with axonal degeneration and regeneration. Oral administration of alpha-tocopherol acetate, 600 mg per day, diminished ataxia significantly. Based on lysosomal enzyme activity in leukocytes, clinical and laboratory examination, lipidosis or spinocerebellar degeneration was excluded. Chronic lipid malabsorption or beta lipoprotein deficiency which can cause decrease in vitamin E absorption, was not recognized. On oral loading with 2 g of alpha-tocopherol acetate, the decrease rate of serum vitamin E was normal. Consequently the low vitamin E was considered to have resulted from selective impairment of vitamin E absorption.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Familial idiopathic vitamin E deficiency associated with cerebellar atrophy]. 226 7

Oral application of elevated dosages of vitamin B1, B6 and B12 have been found to improve target shooting in marksmen, recruited from a local pentathlon association, in two different studies. Study 1 was performed in an open controlled design, whereas in study 2 the group treated with B-vitamins was compared in a double-blind fashion with a placebo control group including 8 by 8 volunteers and 10 by 9 volunteers, respectively. The volunteers were randomly assigned to the groups. Performance quality was followed in both studies over a period of 8 weeks, while participants were continuously supplied with a combination of vitamins B1, B6 and B12 (Neurobion or Neurobion forte; E. Merck, Darmstadt, and Cascan, Wiesbaden, Germany). In both studies, marksmen in the vitamin-treated groups showed statistically significant, considerably improved firing accuracy as measured by the number of points achieved within a series of 20 shots at each examination. In study 2 the degree of improvement was linearly dependent on the duration of vitamin treatment, whereas the placebo-treated group, similar to the untreated control group in study 1, did not show any prominent change. Performance quality in marksmenship closely correlates with the magnitude of physiological tremor. Tremor can also be involved in the regulation quality of sensory-motor control systems. Thus, an improvement in firing accuracy as found in both studies is by the same token an improvement of fine motor control of slow movements, involving, for example, basal ganglia.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Improvement of fine motoric movement control by elevated dosages of vitamin B1, B6, and B12 in target shooting. 250 98

A 40-year-old man who was resected ascending colon and terminal ileum (10 cm) in Aug. 1978, with the diagnosis of Crohn's disease, was admitted to our hospital with general fatigue, paresthesia and tremor in May. 1984. A peripheral blood examination on admission revealed Hb 10.1 g/dl, RBC 234 X 10(4)/mm3, MCV 131.4 fl, MCH 43.2 pg. A bone marrow specimen showed marked erythroid hyperplasia (W/E 1.44) with megaloblastic change. While serum folate level was normal, serum vitamin B12 value was low and Schilling test showed vitamin B12 malabsorption. Roentgenologic and endoscopic examinations revealed diffuse cobblestone appearances in small intestine (from anastomosis part to duodenal bulb). These examinations suggested vitamin B12 malabsorption with diffuse Crohn's disease caused megaloblastic anemia. The patient had been treated with vitamin B12 1,000 micrograms/day injection and, in Sep. 1984, he recovered from megaloblastic anemia (Hb 13.4 g/dl, RBC 440 X 10(4)/mm3, MCV 90.7 fl, MCH 30.4 pg).
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PMID:[Megaloblastic anemia associated with diffuse intestinal Crohn's disease]. 271 98

Dementia--a syndrome of acquired intellectual deterioration--is an etiologically non-specific condition which is permanent, progressive, or reversible. In the evaluation of demented patients, a careful exposure history will determine the possible role of drugs, metals, or toxins. The physical examination may reveal focal deficits in cases of intracranial mass lesions and spasticity or ataxia of the lower limbs if hydrocephalus is present. Coexistance of dementia and peripheral neuropathy usually indicates a toxic or metabolic disorder. Asterixis, myoclonus, and postural tremor are common in toxic-metabolic dementias, while resting tremor, choreoathetosis, and rigidity occur in progressive extrapyramidal disorders. EEG is focally abnormal in cases of cerebral mass lesions and exhibits generalized slowing in toxic-metabolic encephalopathies. CT will aid in the identification of hydrocephalus, subdural hematomas, and intracranial mass lesions. A thorough laboratory evaluation including complete blood count, erythrocyte sedimentation rate, electrolytes, blood urea nitrogen and blood sugar, liver and thyroid tests, calcium and phosphorus levels, B12 and folate levels, serum copper and ceruloplasmin, VDRL, chest X-ray, electrocardiogram, and lumbar puncture may demonstrate treatable disorders that are adversely affecting intellectual function. Elderly individuals are particularly susceptible to the effects of toxic or metabolic disorders, and a mild dementia might be exaggerated by relatively minor fluctuations in metabolic status. Treatable causes of dementia should be considered in all demented patients.
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PMID:[Treatable dementia syndromes]. 358 48

Dementia, a syndrome of acquired intellectual deterioration, is an etiologically nonspecific condition that can be permanent or reversible. When evaluating demented patients, a careful exposure history will determine the possible role of drugs, metals, or toxins. Physical examination may reveal focal deficits in cases of intracranial mass lesions and spasticity or ataxia of the lower limbs if hydrocephalus is present. Coexistence of dementia and a peripheral neuropathy usually indicates the existence of a toxic or metabolic disorder. Depressed mood, sleep disturbance, anorexia, impotence, constipation, and psychomotor retardation indicate the presence of a depressive syndrome. Asterixis, myoclonus, and postural tremor are common in toxic-metabolic dementias, whereas resting tremor, choreoathetosis, or rigidity occur in progressive extrapyramidal disorder. EEG is focally abnormal in cases of cerebral mass lesions and shows generalized slowing in toxic-metabolic encephalopathies. CT will aid in the identification of hydrocephalus, subdural hematomas, and intracranial mass lesions. A thorough laboratory evaluation including complete blood count, erythrocyte sedimentation rate, electrolytes, blood urea nitrogen and blood sugar, liver and thyroid function tests, serum calcium and phosphorus levels, B12 and folate levels, serum copper and ceruloplasmin, VDRL, chest X-ray, electrocardiogram, and lumbar puncture may demonstrate treatable disorders that are adversely affecting intellectual function. Elderly individuals are particularly susceptible to the effects of toxic or metabolic disorders, and a mild dementia may be exaggerated by relatively minor fluctuations in metabolic status. Treatable causes of dementia should be sought in all demented patients.
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PMID:Treatable dementias. 635 58

Following several years absence from clinical follow up, an 18-year-old female on diet therapy for phenylketonuria presented with spastic paraparesis, tremor, disorientation, slurred speech, distractibility, deteriorating mental function and megaloblastic anaemia (Hb 64g/l mean corpuscular volume 121). Plasma phenylalanine levels were 100-600 mumol/l for the first 18 months of life but thereafter, because of serious psycho-social factors, > 1200 mumol/l. Her diet had strictly excluded all meats, eggs and dairy products but she had been ingesting her medical food (Lofenalac) only irregularly. Further investigation revealed a vitamin B12 level of 65.8 pmol/l (normal 150-670). Treatment with oral B12 quickly corrected her anaemia and there was a gradual improvement in speech, gait, tremor, disorientation and mood but mild spastic diplegia remained. This case prompted us to survey 37 adolescent and young adult phenylketonuria patients in our clinic -28 were on diet therapy, 9 were off (age 11-35 years, mean 21.6 years, 17 males, 20 females). Those on diet were not under ideal metabolic control. Six (16%) had subnormal serum B12 levels (< 150 pmol/l) and another six had borderline low values (150-200 pmol/l). None had specific neurological signs of subacute combined degeneration. Serum methylmalonic acid and homocysteine were not measured. On the basis of this survey we recommend that complete blood count, serum B12, RBC folate, methylmalonic acid and homocysteine be routinely measured in adolescents and young adults with phenylketonuria.
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PMID:Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. 882 32

Myelopathy in chronic toluene intoxication is rare. We present obvious lesions of the spinal cord on MRI in a 30-year-old Japanese man with chronic toluene intoxication. He had abused toluene for more than 10 years, and developed visual impairment, horizontal nystagmus, pyramidal tract signs, postural tremor, Romberg's sign, and sensory disturbance below the level of Th 2 dermatome. Anti-HTLV-1 antibody titer and vitamin B12 level in the serum were within normal limits. Biochemical analysis showed no increase of very long chain fatty acids. Cerebrospinal fluid showed no abnormal findings. Auditory brainstem response showed delay of I-V interpeak latency. Somatosensory evoked potential with the median nerve stimulation showed delay of N13-N20 central conduction time, which was later followed by absence of N14-N20 components. On MRI in T2 weighted image, marked high intensity was demonstrated in the posterior limbs of the internal capsule, and in the posterior columns and lateral tracts from the cervical through the upper thoracic cord. Cerebral lesions probably reflect demyelination and axonal degeneration produced by chronic toluene abuse. Spinal cord lesions seem to be secondary to nerve fiber changes more proximal to the nerve cell bodies.
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PMID:[Encephalomyelopathy demonstrated on MRI in a case of chronic toluene intoxication]. 1108 95

Involuntary movements may be a symptom in most infants who present with neurologic syndrome of infantile cobalamin (vitamin B12) deficiency. In this report, two infants with cobalamin deficiency are presented. These patients also developed a striking movement disorder that appeared a few days after treatment with intramuscular cobalamin. The movement disorder was characterized by severe involuntary movements, which were a combination of tremor and myoclonus particularly involving tongue, face, pharynx, and legs. The neurologic symptoms improved within a few days after the administration of clonazepam. In each patient the mother was also cobalamin deficient and the infant was solely breast-fed. The cause of involuntary movements that can appear rarely after treatment in infantile cobalamin deficiency is not known. Besides initial neurologic presenting symptoms of cobalamin deficiency, the occurrence of involuntary movements after treatment should also receive attention. This movement disorder may disappear spontaneously, or an additional treatment may be an alternative approach if the symptoms are severe.
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PMID:Involuntary movements in infantile cobalamin deficiency appearing after treatment. 1207 71

Infantile tremor syndrome is characterized by coarse tremors, mental and physical retardation, light colored brown hair, skin pigmentation and anemia. Amongst the theories proposed for the etilogy of the disorder, the nutritional theory is most accepted. In this case report, we have presented a fourteen-month-old male child with ITS and documented zinc deficiency. Though most of the previous workers have proposed vitamin-B12 deficiency as the etimology for ITS, our report suggests that zinc deficiency could also have a causative role.
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PMID:Infantile tremor syndrome and zinc deficiency. 1250 16

Tremor in childhood, beginning in the neonatal period, is more common than generally appreciated. Although some tremor disorders in children (eg, essential tremor) also affect adults, others (eg, shuddering, jitteriness, spasmus nutans, and vitamin B12-deficiency tremor) are seen exclusively in children. This review covers the etiology, clinical features, and treatment of the major tremor syndromes in children, and when appropriate, makes comparisons with similar disorders in adults.
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PMID:Tremor in children. 1278 45


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