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 phylogenetically conserved nuclear factor I (NFI) family of transcription/replication proteins is essential both for adenoviral DNA replication and for the transcription of many cellular genes. We showed previously that the four murine NFI genes (Nfia, Nfib, Nfic, and Nfix) are expressed in unique but overlapping patterns during mouse development and in adult tissues. Here we show that disruption of the Nfia gene causes perinatal lethality, with >95% of homozygous Nfia(-/-) animals dying within 2 weeks after birth. Newborn Nfia(-/-) animals lack a corpus callosum and show ventricular dilation indicating early hydrocephalus. Rare surviving homozygous Nfia(-/-) mice lack a corpus callosum, show severe communicating hydrocephalus, a full-axial tremor indicative of neurological defects, male-sterility, low female fertility, but near normal life spans. These findings indicate that while the Nfia gene appears nonessential for cell viability and DNA replication in embryonic stem cells and fibroblasts, loss of Nfia function causes severe developmental defects. This finding of an NFI gene required for a developmental process suggests that the four NFI genes may have distinct roles in vertebrate development.
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PMID:Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum. 1051 56

The natural history, management, and long-term outcome for patients with benign, intrinsic tectal plate gliomas remain controversial in spite of their propensity to cause late-onset hydrocephalus. A 10-year retrospective review has identified 11 consecutive children with tectal plate lesions. Headache, vomiting, a decline in school performance, tremor, and complex partial seizures were common presenting symptoms. All patients presented with signs and symptoms of hydrocephalus. Magnetic resonance (MR) imaging delineated an intra-axial mass lesion of the midbrain primarily localized to the tectal plate which uniformly was hyperintense on T2-weighted imaging and had a more variable appearance on T1-weighted imaging and rare enhancement with gadolinium. No patient underwent surgical resection, chemotherapy, or radiotherapy. Three of 11 patients (27%) showed evidence of progression in size or a new focus of enhancement on MR imaging, which was clinically asymptomatic. In this series, no patient with a tectal plate lesion less than 1.5 cm in maximal diameter and without gadolinium enhancement showed any evidence of clinical or radiological progression. Although intrinsic tectal lesions in children are clinically indolent and the initial management consists of CSF diversion, these lesions may eventually progress and still warrant long-term follow-up with serial MR imaging.
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PMID:Management of intrinsic gliomas of the tectal plate in children. A ten-year review. 1070 25

Clinical data, neuroimaging, and neuropathology of 17 patients with central nervous system tuberculosis were reported. Of this population, 12 were men, 5, women; ages ranged from 23 to 75 years (mean, 46.9). There were three HIV positive patients among them. More than a half of patients had disturbance of consciousness as initial symptom. Neurological signs were variable such as visual acuity loss, hemiparesis, paraparesis, cerebellar ataxia, and tremor, though disturbance of consciousness was the most frequent (36%). Neuroimaging (X-ray CT and MRI) revealed meningeal enhancement (53%), tuberculoma (50%), hydrocephalus, infarction or bleeding and spinal cord tuberculoma. There were three patients who showed paradoxical progression. Eleven patients were performed CSF examination, all of them revealed increased cell count (mean, 206 counts/mm3) and protein (mean, 225 mg/dl), but only 4 patients were positive on bacteriological examination including PCR. Seven patients died and 5 patients were performed autopsy. Neuropathologically, all patients showed a stage of meningitis prominent on basal brain (basal cistern and/or Sylvian fissure). Cell infiltrations including lymphocyte, monocyte, and eosinocyte were most severe around blood vessels, and observed in all cases except one which showed only fibroblast and collagen fibers indicating healed stage. In some cases, there existed epithelioid cells and Langhans giant cells, and in some cases, fibrin exudate. There were three cases having tuberculoma, one HIV case and two non-HIV cases. Center of tuberculoma in non-HIV case was formed by caseous necrosis, and tuberculoma was surrounded by granuloma constituted by epithelioid cells and Langhans giant cells with lymphocyte cell infiltration and proliferation of blood vessels. In contrast, tuberculoma of HIV case did not include granuloma, and was formed with small cells with large nucleus which surrounded arteries. Our studies, as other studies, failed to show any differences between HIV and non-HIV patients clinically, as well as on neuroimaging study. But neuropathological study suggests that mechanism of tuberculoma formation may be different between in HIV positive patients and in non-HIV patients.
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PMID:[Central nervous system tuberculosis with and without HIV infection--clinical, neuroimaging, and neuropathological study]. 1088 29

GAIT ARRESTS: They affect the evolution of the disease. This freezing phenomenon which induces falls sometimes constitutes an initial sign. Like the gait initiation failure, freezing can be controlled by sensory stimulation, notably visual inputs, but also by more sustained attention. FALLS ARE MAINLY CONNECTED WITH BOTH POSTURAL INSTABILITY AND RIGIDITY: They are poorly influenced by dopaminergic therapies. The progressive decrease of step width represents a main factor in their occurrence. PRECOCITY OF GAIT DISORDERS IS UNUSUAL IN PARKINSON'S DISEASE: Other parkinsonian syndromes such as progressive supranuclear palsy, multiple system atrophy and vascular parkinsonian syndrome must then be evoked. Their association with a cognitive impairment and abnormal sphincter behaviour infers a diagnosis of normal pressure hydrocephalus. GAIT IMPROVES WITH L-DOPA THERAPY: Speed, step length and duration of the swing phase are increased without change of cadence. Progressive loss of L-dopa efficiency on gait and postural stability contrasts with the persistent effect on tremor, rigidity and bradykinesia; a functional abnormality of nondopaminergic systems can explain these symptoms. In the following stages, gait troubles increased by motor fluctuations and abnormal involuntary movements are less controlled by L-dopa therapy. PHYSICAL THERAPY PLAYS A MAJOR ROLE IN THERAPEUTIC MANAGEMENT: An individual or collective rehabilitation project must be established according to the stage of evolution; the exercises aim to protect postural control and coordination. Visual or sound rhythmic inputs can be employed in the case of gait initiation failure. THE EFFECTS OF FUNCTIONAL NEUROSURGERY ARE IN THE COURSE OF EVALUATION: Thermolesion and chronic electrical stimulation of deep brain structures have opposite effects on gait troubles. Bilateral thalamotomy or pallidotomy are sometimes a source of disequilibrium. Chronic thalamic stimulation does not induce either benefits or adverse effects. On the other hand, stimulation of the internal pallidum improves gait kinematic parameters; improved postural adjustments have also been reported. The effect of subthalamic nucleus stimulation is comparable to that of L-dopa, however the long-term effect remains to be evaluated.
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PMID:[Gait disorders in Parkinson disease. Gait freezing and falls: therapeutic management]. 1128 86

We report a case of multiple intracranial cavernous angiomas with serial clinical examination and with MRI imaging for 10 years. The patient, 72 years old woman, had slowly progressive postural tremor and Parkinsonism followed by dementia. Pathological confirmation of cavernous angioma was obtained. At the age of 62, brain MRI study demonstrated hydrocephalus, multiple small hypointensity dots in cerebellum and cerebral white matter, and reticulated cores predominantly adjacent to the ventricles on T2-weighted images. Serial MRI imaging shows that the number of small dots has markedly increased and that hypointense lesions surrounding reticulated core, corresponding to hemosidern deposit, have extended. This case indicates that probably due to chronic compression and continuous hemorrhage' multiple and long-standing intracranial lesions could cause dementia and Parkinsonism, which are uncommon symptoms of cavernous angioma.
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PMID:[A case of multiple intracranial cavernous angiomas presented with dementia and parkinsonism--clinical and MRI study for 10 years]. 1133 91

This study describes the developmental neuropathology of two infants who survived 7 and 9 years, respectively, an episode of violent shaking (shaken infant syndrome) early in their lives. The shaking injuries include cortical and subcortical contusions, hemorrhages, hypoxic/ischemic and axonal damage, and severe edema. The types, distribution, and resolution of these shaking injuries are detailed by sequential radiographic studies and by pathologic examination at postmortem. Despite their severity and extent, these injuries resolved in a relatively short period of time. By 6 months, the original injuries are repaired and the resultant encephaloclastic encephalopathies (e.g., multicystic encephalomalacia, porencephaly, generalized white matter attenuation, diffuse cortical atrophy, microgyria, ulegyria, and hydrocephalus ex vacuo) are well established. No appreciable pathologic differences are detected when radiographic findings at 6 months of age are compared to postmortem observations. On the other hand, undamaged and/or partially damaged cortical regions survive the original insult and undergo post-injury reorganization that transforms the residual cortex structural and presumably functional organization. Prominent features of this post-injury reorganization include progressive cortical dysplasia with cytoarchitectural disorganization, laminar obliteration, morphologic and functional (synaptic reorganization) transformation of some neurons, preservation of layer 1 intrinsic fibers and Cajal-Retzius cells, and the presence of large (hypertrophic) intrinsic neurons with intense neurofilament immunoreactivity. We propose that this progressive dysplastic process modifies the residual cortex structural and functional organization, influences the child's neurological and psychological maturation, and may play a significant role in the pathogenesis of ensuing neurological and/or psychological sequelae.
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PMID:Shaken infant syndrome: developmental neuropathology, progressive cortical dysplasia, and epilepsy. 1190 51

A 36-year-old HIV-seropositive man developed progressive confusion and unilateral tremor of the hand. His medical history included cryptococcal meningitis and CMV colitis. CT scan revealed a single hyperdense mass with minimal peripheral enhancement at the region of the cerebral peduncle and pons, causing obstructive hydrocephalus. He was treated with ventriculo-peritoneal shunt and cranial radiotherapy. He also received treatment with highly active antiretroviral therapy (HAART). A CD4+ cell count was increased from 2 to 345 cells/mm3. He returned to normal function for about 32 months after treatment.
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PMID:AIDS-related primary central nervous system lymphoma: prolonged remission associated with highly active antiretroviral therapy. 1218 96

The most common cause of subdural hematomas (SDH) in infants is shaken-baby syndrome (SBS). The pathogenesis and natural history of infantile SDH (ISDH) are poorly documented, because in SBS, the date of shaking is usually imprecise and the assault is often repeated. Victims of traffic accidents (TA) form a study group close to experimental conditions, because the trauma is unique, witnessed and dated. We reviewed 18 cases of SDH due to TA in infants under the age of 24 months. Our goal was to investigate the clinical and radiological data and natural history of SDH. A subdural collection was found on the day of trauma in 7 cases. In 3 of these, the collection was already hypodense. The perifalcine region was the most frequent site of intracranial bleeding. Blood hyperdensity was always found on CT scans performed during the first week, and turned hypodense on about the 9th day. Three patients had retinal hemorrhage, of a type distinct from that found in SBS. Drainage of the SDH was required in 14 cases after a mean delay of 13.5 +/- 5.8 days after trauma. Four patients also required a ventriculoperitoneal shunt because of associated hydrocephalus. Our data suggest that impaired CSF drainage plays a large role in the pathogenesis of ISDH. The fact that a single and recent trauma can result in mixed-density ISDH can be of great importance in forensic medicine.
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PMID:Infantile subdural hematomas due to traffic accidents. 1241 16

A case of parkinsonian syndrome caused by normal pressure hydrocephalus (NPH) accompanied by cauda equina neurinoma is reported. A 69-year-old woman presented with typical symptoms of parkinsonism, including akinesia, resting and postual tremor, and cog-wheel rigidity. CT scan of the brain revealed dilatation of ventricles, but she did not present dementia and urinary incontinence that are common symptoms in NPH. Her cerebrospinal fluid (CSF) pressure was normal, and her protein level was high at 2,970 mg/dl. An electroencephalogram (EEG) showed diffuse slow waves. An IMP-SPECT images of the brain showed diffuse reduction of radioisotope uptake. Levodopa was not effective in treating her parkinsonism. Removal of the tumor caused dramatic improvement in her parkinsonism. Her CSF protein level was normalized and EEG and SPECT images were improved after the operation. However, ventricular size on brain CT showed no change. It was considered that the causal mechanism of NPH was due to high protein levels in the CSF. The parkinsonism in this case was caused by dysfunction of the circuits linking the cortex, basal ganglia, and thalamus associated with metabolic disorder due to periventricular ischemia. Typical parkinsonism caused by NPH associated with spinal cord tumor has not been reported. When we examine a patient with parkinsonian syndrome caused by NPH, we should check the CSF protein level. And if that level is high, the possibility of spinal cord tumor should be considered.
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PMID:[A case of parkinsonian syndrome caused by normal pressure hydrocephalus accompanied by the cauda equina neurinoma]. 1242 62

Bobble-head doll syndrome is a rare and unique movement disorder encountered in children. It is characterized by continuous or episodic involuntary forward and backward and side to side movement of the head at the frequency of 2-3 Hz. Neuroimaging in most of the cases reveals third ventricular tumors, suprasellar arachnoid cysts, aqueductal stenosis and other lesions in the region of the third ventricle along with communicating hydrocephalus. In most of the circumstances, the problem starts in the first decade of life and diversion of cerebrospinal fluid by shunt operation is very often accompanied by dramatic improvement. We report one case where bobbing of the head started at around 12 years of age. Additionally, there was evidence of partial left abducens nerve palsy, tremor in the outstretched hands, difficulty in finger-nose test and tandem walking, hyperreflexia and extensor plantar response. He was unconscious on two occasions and there was evidence of gross hydrocephalus along with a thin membranous web, running transversely across the lower part of the aqueduct of Sylvius without any cerebrospinal fluid flow void. Ventriculo-peritoneal shunt abolished the abnormal movements. We propose that the aqueductal web was the offending agent for the pathogenesis of bobble-head doll syndrome in our case and this lesion has not been identified in the cases reported so far. Relevant literature in this regard has also been reviewed.
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PMID:Bobble-head doll syndrome: some atypical features with a new lesion and review of the literature. 1291 67


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