Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hepatolenticular degeneration (Wilson's disease) is a hereditary disease in which metabolic disorder of copper leads to its accumulation in the liver, brain, cornea and kidneys with consequent pathologic changes in those organs. Hereditary mechanism of the disease is autosomal recessive with prevalence of 30-100 per 1,000,000 inhabitants. Etiology of this disease is not yet explained. There are two hypotheses. The first one is that it is the disorder of ceruloplasmine metabolism caused by insufficient synthesis of normal ceruloplasmine, or synthesis of functionally abnormal ceruloplasmine. The second one is: the block of copper biliar excretion which is the consequence of the liver lysosomes functional defect. Pathogenetic mechanism of disease is firstly long-term accumulation of copper in the liver, and later, when the liver depo is full, its releasing in circulation and accumulation in the brain, cornea, kidneys and bones, which causes adequate pathologic changes. Toxic activity of copper is the consequence of its activity on enzymes, particularly on those with -SH group. There are two basic clinical forms of the disease: liver disease or neurologic disease. Before puberty the liver damage is more frequent, while in adolescents and young adults neurologic form of the disease is usual. The liver disease is nonspecific and characterized by symptoms of cirrhosis and chronic aggressive hepatitis. The only specificity is hemolytic anemia which, in combination with previous symptoms, is important for diagnosis of the disease. Neurologic symptoms are the most frequent consequence of pathologic changes in the basal ganglia. In our patients the most frequent symptoms were tremor (63%); dysarthria, choreoathetosis and rigor (38%); ataxia and mental disorders (31%); dysphagia and dystonia (12%), diplopia, hypersalivation, nystagmus and Babinski's sign (6%). Among pathologic changes in other tissues and organs the most important is the finding of Kayser-Fleischer ring in the cornea as a result of copper accumulation. Its importance for precise diagnosis is great. The diagnosis of the disease is based on anamnesis, clinical examination, specific and nonspecific laboratory tests. The therapy of choice is penicillamine. If we use it early, the result will be good remission in the majority of patients. Late diagnosis or delay in treatment cause death which is the result of bleeding from esophageal varices or basal ganglia disease. Immunologic damages caused by penicillamine demand interruption of therapy and substitution by three-ethyl-tetra-amine (TETA). We also use zinc salts and tetratiomolibdate in therapy of this disease. Pathogenesis, clinical picture and therapy of the disease are based on our own results.
 ...
PMID:[Hepatolenticular degeneration]. 226 49

Sixteen (16) patients of Leber's congenital amaurosis diagnosed with ERG all had nystagmus since infancy; 9 cases showed the digito-ocular sign and 15 had axial hyperopia on cycloplegic refraction and/or A-scan ultrasonography. The common ophthalmoscopic findings were narrow vessels, grayish coloration and pigmentation in the retina. The average serum zinc level of 12 cases was significantly lower than that of the controls, while the copper level differed not much. The results suggest that it is advisable for the child patients to receive cycloplegic refraction and proper spectacle correction as early as possible, and zinc therapy.
 ...
PMID:[Clinical findings and trace metals (zinc & copper) in Leber's congenital amaurosis]. 237 32

Wilson's disease is a hereditary autosomal recessive disorder of copper metabolism. The corresponding gene locus has been localized on the long arm of chromosome 13. Three different clinical variants of the disease can be distinguished: hepato-cerebral, abdominal/hepatic, and central nervous type. The heterogeneity of symptoms can cause problems in differential diagnosis, especially when another concordant disorder can also explain the pathogenesis of symptoms. The case report of a young man who suffered from brainstem contusion demonstrates the possibilities of misinterpretation because presenting symptoms could be attributed either to traumatic brain injury followed by adjustment disorder or Wilson's disease. Clinical signs included leftsided hemiparesis, bilateral gaze direction nystagmus, marked dysarthria with consecutive pervasive mutism, choreo-athetoid movements, spasmodic torticollis and diplopia dependent on gaze direction. Slit lamp examination showed Kayser-Fleischer's corneal ring. EEG- and computer assisted tomography investigations revealed non-specific findings. The patient was treated with D-Penicillamine. Alternative treatment with oral zinc preparations is discussed.
 ...
PMID:Case report: concordant traumatic brainstem contusion delayed diagnosis in a young man with Wilson's disease. 778 83

In adult guinea pigs, unilateral labyrinthine lesions were inflicted by chloroform injections into the middle ear. Immunoreactivity for S100 protein (S100) in the vestibular nuclei was studied during compensation of lesion-induced postural asymmetry symptoms, i.e., nystagmus, asymmetrical head position. 1 h after unilateral labyrinthectomy, increased levels of astroglial S100 immunoreactivity were found in the superior vestibular nucleus and in the medial/lateral vestibular nucleus border region on the side contralateral to the deafferentation. Bilaterally, the astrocytic S100 immunoreaction increased in the lateral vestibular nuclei around Deiters neurons. Maximal expression of S100 was noted 3 h after the lesion. Subsequently, it diminished. Our data reveal that transsynaptically altered neuronal activity induces an astrocytic reaction which provides increased levels of S100 to the local neuropil. Calcium and zinc binding S100 proteins may play a functional role for the neuroplasticity during vestibular compensation.
 ...
PMID:Expression of S100 protein in the vestibular nuclei during compensation of unilateral labyrinthectomy symptoms. 854 26

Melanin granules in the retinal pigment epithelium (RPE) have many important functions which are not yet completely understood. Melanin in the RPE protects the cell from damage caused by oxidative stress. This pigment acts as a free radical sink and diminishes cytotoxic lipid peroxidation. Thus, melanin protects against light toxicity and against cytotoxic effects caused by ocular inflammation. Many enzymes, e.g. superoxide dismutase or carboanhydrase, are only activated in the presence of zinc. Melanin can store zinc and release it when required. The absence of melanin in patients with oculocutaneous albinism is accompanied by photophobia, poor visual acuity and nystagmus. Furthermore melanin is said to protect against damaging lipofuscin accumulation in the RPE. Melanosomes are involved in the lysosomal degradation pathways and possibly take part in the degradation of rod outer segments (ROS) in the RPE.
 ...
PMID:[Characteristics and functions of melanin in retinal pigment epithelium]. 1179 2

Despite circumstantial evidence that opsoclonus-myoclonus (OM) is often immune mediated, no specific autoantigen has been identified. Using sera of 21 patients with several types of OM (idiopathic, associated to small cell lung cancer, and associated to neuroblastoma), we probed a brainstem cDNA library to isolate target neuronal antigens. Thirty-seven clones coding for 25 proteins were isolated, with two groups of autoantigens emerging: (1) proteins of the postsynaptic density, among them the adenomatous polyposis coli, and 2) proteins with expression or function restricted to neurons, including RNA or DNA-binding proteins and zinc-finger proteins. Usually, each patient's serum recognized a different autoantigen, except for adenomatous polyposis coli that was recognized by sera of two patients with idiopathic OM and two control patients with nystagmus, diplopia, and paraneoplastic brainstem dysfunction. Overall, in the indicated types of OM, (1) we found frequent and heterogeneous immunity to neuronal autoantigens without a single specific antibody marker of OM, (2) the occasional detection of antibodies to known onconeuronal antigens (ie, Hu proteins) probably is related to cancer-induced immunity rather than to OM, and (3) the postsynaptic density is a frequent source of novel autoantigens, with several proteins of this complex targeted by antibodies of OM patients.
 ...
PMID:Autoantigen diversity in the opsoclonus-myoclonus syndrome. 1260 2

Phenytoin is indicated for tonic clonic seizures and status epilepticus. Phenytoin is known to deplete vital nutrients such as calcium, folic acid, vitamin D, vitamin K, biotin, carnitine, copper, selenium and zinc. Depletion of nutrients is known to cause adverse effects such as ataxia, nystagmus, lethargy, slurred speech and hematological disturbances. Spirulina is a rich source of vital nutrients including iron. It is proposed to study the effect of spirulina on the hematological disturbances induced by phenytoin. Seven groups of male albino rats weighing 130-150g were used. Each group consisted of six animals. Phenytoin at a dose of 20mg/kg/day dissolved in water, spirulina 50, 100, 200 mg/kg/day suspended in 1% tween 80 alone or in combination with phenytoin was administered for 30 days. Hemoglobin content, total leucocyte and erythrocyte count were determined on 30(th) day. Phenytoin significantly decreased the hemoglobin content, total erythrocyte and leukocyte count. Spirulina did not show any effect at the lower dose of 50 and 100mg/kg and higher dose of 200mg/ kg significantly elevated hemoglobin content. Spirulina at a dose of 200mg/kg/day in combination with phenytoin reversed the phenytoin induced decrease in hemoglobin content, total erythrocyte and leukocyte count. The results of this study indicates that supplementation of phenytoin with spirulina may reverse the hematological disturbances induced by phenytoin.
 ...
PMID:Influence of spirulina on the phenytoin induced haematological changes. 2255 35