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)

Postnatal development of auditory brainstem response (ABR) in spontaneously epileptic rats (SER; zi/zi, tm/tm), a double mutant, their parent mutants, tremor rats (tm/tm) and zitter rats (zi/zi), and Kyo:Wistar rats (control), was studied by repeated ABR recordings from 2 to 13 weeks of age. In tremor rats and Kyo:Wistar rats at 2 weeks of age, ABR pattern was almost the same and 2 or 3 waves were identified. However, no further development in ABR was observed in tremor rats and prolongation of latency and lowering of amplitude were marked. Only wave I with prolonged latency and lowered amplitude was recognized in zitter rats, SER and SER-N (zitter phenotype without epilepsy; zi/zi, tm/+ or zi/zi, +/+). ABR pattern was almost the same from 2 to 13 weeks of age in them. Electrocochleography revealed delay of N1 latency of compound action potential in SER. Vacuolation was observed in the cochlear nuclei and the brainstem of tremor rats and SER from 3 weeks of age in histopathological examination. The organ of Corti and cochlear nerve of tremor rats and SER exhibited no remarkable histopathological findings. The deafness in SER and its parent mutants was considered to occur as a result of impairment of inner ear, cochlear nerve and brainstem as well.
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PMID:Auditory brainstem response (ABR) in spontaneously epileptic rats (SER) and their parent mutants. 183 5

A 16-year-old girl had hearing loss, paroxysmal tremor, gait disorders, and psychiatric disturbances as the initial manifestations of a cryptococcal meningoencephalitis. Imaging demonstrated an obstructive hydrocephalus, and neuro-otological explorations showed a retrocochlear deafness and diffuse brainstem involvement. Emphasis is on the deafness, which rarely occurs as a presenting symptom in this condition, and on its dramatic improvement following antimycotic therapy.
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PMID:Reversible hearing loss in a patient with cryptococcosis. 237 25

Xeroderma pigmentosum associated with neurological abnormalities is a less familiar neurocutaneous disorder. In this report, 35 patients with group A xeroderma pigmentosum were assessed for neurological complications. Of these, 17 showed microcephaly and 24 mental retardation. Of 25 patients over 7 years of age, 22 had sensorineural deafness and 12 showed spinocerebellar signs such as nystagmus, dysarthria, tremor and ataxia, while none below 7 years of age had such neurological complications. Thirty-five EEG studies were performed on 29 patients, and 15 showed intermittent spindles of grouped theta waves with abnormal slow background activity and a poorly developed alpha rhythm, suggesting immature brain development or a regression from normal brain function in many areas including the diencephalon. Twenty-six patients were examined by cranial CT scan, of whom 20 showed abnormal CT findings such as ventricular dilatation, diffuse cortical atrophy, and marked thickening of the calvarial bones. The incidence of abnormal EEG and CT findings increased with advancing age in accordance with the development of neurological complications in the CNS, thus suggesting a chronic progressive degenerative disease.
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PMID:EEG and CT abnormalities in xeroderma pigmentosum. 281 76

The neurological mutant whirler mouse, one of several strains of waltzing mice, may be suitable as an animal model for testing studies relative to hyperkinesis. As in hyperkinetic children, behaviorally the mice are extremely restless, nervous, excitable, irritable and aggressive but also show symptoms of rotation behavior, head-shaking and deafness. This study demonstrated that paradoxically oral intubation of daily doses of 5.0 mg/kg of methylphenidate during a 23 week period significantly decreased circling activity in test mice. The effects on circling behavior were reversible following cessation of methylphenidate administration. After 18 weeks of cessation of the CNS stimulant, oral administration of a single dose of 2.5 mg/kg of methylphenidate caused a 37.8% increase in circling activity but the increase compared to control whirler mice was not significant. Use of this strain as an animal model may be especially beneficial in the screening of new drugs for the treatment of hyperkinesis.
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PMID:Effects of methylphenidate on whirler mice: an animal model for hyperkinesis. 286 60

Xeroderma pigmentosum is an unusual neurocutaneous disorder. Recent studies have classified patients with xeroderma pigmentosum into 10 groups by somatic cell hybridization methods. In this report we describe 32 patients with Group A xeroderma pigmentosum, including 1 patient with an atypical case, who were assessed for neurological complications. Of these patients, 17 had microcephaly, 13 short stature, and 21 mental retardation. In patients over 7 years of age, sensorineural deafness and spinocerebellar signs such as nystagmus, dysarthria, tremor, and ataxia were frequently observed; no patients below 7 years of age had such neurological complications. Electroencephalographic studies revealed abnormal slow and low voltage background activity. Two patients had focal abnormal discharges, one of whom developed versive seizures. Cranial computed tomographic scans revealed abnormalities, including ventricular dilatation, cerebral atrophy, cerebellar and brainstem atrophy, and cranial bone thickening. A patient with an atypical case of Group A xeroderma pigmentosum had less skin and neurological involvement, and higher levels of postultraviolet colony-forming ability and host cell reactivation than did a typical Group A case. It is possible that these less severe cytological findings are responsible for the less severe skin lesions and neurological complications noted clinically.
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PMID:Neurological manifestations in xeroderma pigmentosum. 374 Aug 15

The authors report two cases of Besnier -Boeck- Schaumann sarcoidosis with a neurological presentation. The first case was a 25 year old woman with a 5 year history of polyneuritis affecting the cranial and spinal nerves with very low nerve conduction times and without any detectable visceral disease. The diagnosis was made by distal bronchial biopsy. The second case was of an elderly man with tremor, difficulty in keeping his balance and deafness with chronic meningitis. The diagnosis was made by proximal bronchial biopsy, chest X-Ray showing a benign hilar lymphoma. In the first case, therapy comprised two three months courses of high dose intravenous steroids followed by oral corticosteroid therapy tailing off over three weeks. In the second case, the same intravenous steroid therapy was relayed by continuous oral steroids. The therapeutic effect was spectacular in the first case, but incomplete in the second, the intravenous steroids seeming to be more effective than the oral steroids.
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PMID:[Sarcoidosis of the central and peripheral nervous system]. 632 39

The shaker-2 mouse with inherited inner ear disease suffers from deafness and a shaking-waltzing behavior. The hair cell type I in cristae ampullares and maculae utriculi show a specific pathology, featuring fusion of the stereocilia and presence of a rod-shaped inclusion body. The inclusion body is composed of filaments that could be identified as the protein actin by the method of decoration with subfragment S-1 of myosin. The functional polarity was determined, and S-1 fragments were found to point apically, that is, from the nucleus up toward the cuticular plate. These observations are identical to those earlier described in the waltzing guinea pig. It is concluded that the identical pathology at a cellular level in two different species may indicate a pathologic disorder in a process fundamental to the normal development of this type of hair cell.
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PMID:Rods of actin filaments in type I hair cells of the Shaker-2 mouse. 688 51

A mother and son suffer from hemiplegic migraine with onset in childhood. Both have nystagmus which has not changed for many years, but the date of onset is uncertain. They have an asymmetrical tremor, clinically indistinguishable from essential tremor. Neuroophthalmological examination revealed inability to produce smooth pursuit, gaze-paretic nystagmus, rebound nystagmus, failure of fixation suppression of the vestibuloocular reflex both horizontally and vertically, and low gain of the optokinetic system. These abnormalities, confirmed by electrooculography, are commonly seen in disease of the cerebellum and brainstem. Treatment with propranolol and pizotyline lessened the number of episodes of hemiplegia and improved the tremor. Hemiplegic migraine has been reported in association with nystagmus, retinal degeneration, deafness, and ataxia in varying combinations in three other families with autosomal dominant inheritance. These associated neurological manifestations likely represent system degenerations rather than the effect of repeated ischemia imputable to the migraine itself. The syndrome of hemiplegic migraine, tremor, and ocular smooth pursuit system disorder seen in this family appears to be inherited as a single autosomal dominant trait, although more than one autosomal dominant gene may be involved.
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PMID:An autosomal dominant syndrome of hemiplegic migraine, nystagmus, and tremor. 743 78

The stages of continuous vertigo of peripheral origin were classified into nine categories according to the findings of spontaneous nystagmus (SPN) and head-shaking nystagmus (HSN). The patients analysed were 18 with vestibular neuronitis, 6 with sudden deafness and 6 with unilateral inner ear disorders. 1) Irritative SPN (Stage I) was rarely encountered. 2) SPN of the paralytic type (Stage II) was usually observed in the period less than one month after the onset of diseases. 3) HSN directed toward the intact side with or without a reversal phase (Stages III-2 and III-1, respectively) were the common types of central compensation. 4) The progress of recovery to complete cure (Stage V) was usually rapid once it had actually begun. 5) During the process of recovery, HSN could disappear transitorily (Stage III-3), or be directed toward the affected side without a reversal phase (Stage III-5). Spontaneous recovery nystagmus (Stage IV) could also occur. 6) About 40% of patients recovered to Stage V within about 4 months after the onset of vertigo, but about 30% of patients remained in Stage III-1 or III-2 even after 4 months.
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PMID:Stage-assessment of the progress of continuous vertigo of peripheral origin by means of spontaneous and head-shaking nystagmus findings. 761 Aug 63

We report a patient with mitochondrial encephalomyopathy presenting parkinsonism, as well as her brother who had ataxia but not parkinsonism. Both patients had myopathy, deafness, and insulin-dependent diabetes mellitus. The proband was a 55-year-old woman, who has developed progressive difficulty in walking and slowness of movement since 53 years of age, becoming bed-ridden at 55. Neurological examination revealed mental impairment, a masked face, Myerson's sign, vertical supranuclear ophthalmoplegia, and severe sensorineural deafness, hypokinesia, rigidospasticity, and weakness of the extremities. But tremor and cerebellar ataxia were absent. Her 48-year-old brother gradually developed weakness of the lower extremities and drunken gait over a few years. On neurologic examination, vertical supranuclear ophthalmoplegia, moderate sensorineural deafness, and cerebellar ataxia were present, but parkinsonism was absent. Three other siblings were reported to have died in early childhood. Cranial MR imaging showed cerebral atrophy and mild atrophy of the cerebellar vermis as well as mild periventricular hyperintensities in T2-weighted images in both patients. However, no infarcts were seen. Laboratory investigations revealed slightly elevated lactate and pyruvate levels in the proband and elevation of pyruvate in her brother. A biopsy specimen obtained from the quadriceps muscle showed ragged-red fibers with modified Gomori trichrome staining, and a decrease of complex I+III and complex II+III activity in the proband. Mitochondrial DNA (mtDNA) analysis using the polymerase chain reaction and restriction enzyme Apa I showed a point mutation in the tRNA(Leu)(UUR)) gene (an A to G transition at nucleotide 3243) in both patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Mitochondrial encephalomyopathy associated with parkinsonism and a point mutation in the mitochondrial tRNA(Leu)(UUR)) gene]. 802 31


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