Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 12-year-old crossbred female cat was presented for necropsy with a history of anorexia, ataxia, convulsions, and blindness. Grossly, a whitish, firm, and well-circumscribed nodule with an irregular surface of approximately 1.5 cm in diameter was observed in the right dorsal, parietal, and occipital lobes of the brain. Histologically, the tumor was composed of neoplastic astrocytes forming irregular interweaving sheets and bundles. These cells were elongated, spindle-shaped, and bipolar, and some had clear cytoplasm and a dense nuclear chromatin pattern. Extensive areas of cartilaginous and osseous metaplasia were observed. By immunohistochemistry, the neoplastic cells were found to be markedly positive for S-100 protein and glial fibrillary acidic protein. On the basis of morphologic and immunohistochemical features, the diagnosis of pilocytic astrocytoma was made.
 ...
PMID:Pilocytic astrocytoma in a cat. 1245 Feb 12

Medical records of thirty-five consecutive cases of canine granulocytic ehrlichiosis (CGE) diagnosed cytologically in Central Italy in 1995-2000 were analysed retrospectively. Tick exposure was reported in 16 dogs (45.7%) and concurrent babesiosis in 19 dogs (54.3%). Ehrlichia-like inclusion bodies were found in neutrophils in a percentage varying from 0.5% to 11%. Frequently recorded clinical signs included anorexia (71.4%), lethargy (45.7%), conjunctivitis (31.4%), fever (25.7%), lameness (20%) and ataxia (20%). Among the 16 representative dogs in which protein, electrophoresis was performed, 10 (62.5%) showed high globulin levels and 6 (37.5%) had concurrent high total protein levels. During treatment with doxycycline, all associated symptoms, including those unusually described, such as pyoderma intertrigo, erythema, apparent blindness and oral papillomatosis, progressively disappeared in 31 (89%) out of 35 dogs. The efficacy of treatment was marked in dogs simultaneously treated twice with imidocarb dipropionate: among the 14 dogs in which a fast recovery was noted, 11 (80%) were concurrently affected by babesiosis and consequently treated with the specific medicament leading to excellent outcomes. The main conclusion is that CGE is present among dogs from Central Italy and should be included in the differential diagnosis of possible zoonotic agents affecting the canine population.
 ...
PMID:Canine granulocytic ehrlichiosis (CGE) in Italy. 1268 28

Mucolipidosis II (ML II), also called I-cell disease, is a unique lysosomal storage disease caused by deficient activity of the enzyme N-acetylglucosamine-1-phosphotransferase, which leads to a failure to internalize enzymes into lysosomes. We report on a colony of domestic shorthair cats with ML II that was established from a half-sibling male of an affected cat. Ten male and 9 female kittens out of 89 kittens in 26 litters born to clinically normal parents were affected; this is consistent with an autosomal recessive mode of inheritance. The activities of three lysosomal enzymes from affected kittens, compared to normal adult control cats, were high in serum (11-73 times normal) but low in cultured fibroblasts (9-56% of normal range) that contained inclusion bodies (I-cells), reflecting the unique enzyme defect in ML II. Serum lysosomal enzyme activities of adult obligate carriers were intermediate between normal and affected values. Clinical features in affected kittens were observed from birth and included failure to thrive, behavioral dullness, facial dysmorphia, and ataxia. Radiographic lesions included metaphyseal flaring, radial bowing, joint laxity, and vertebral fusion. In contrast to human ML II, diffuse retinal degeneration leading to blindness by 4 months of age was seen in affected kittens. All clinical signs were progressive and euthanasia or death invariably occurred within the first few days to 7 months of life, often due to upper respiratory disease or cardiac failure. The clinical and radiographic features, lysosomal enzyme activities, and mode of inheritance are homologous with ML II in humans. Feline ML II is currently the only animal model in which to study the pathogenesis of and therapeutic interventions for this unique storage disease.
 ...
PMID:Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. 1455 88

There has been a recent explosion in knowledge regarding the genetic basis of several autosomal recessive ataxias. This article summarizes current information regarding rare forms of recessive ataxias. Friedreich's ataxia and ataxia telangiectasia are dealt with in other articles in this issue. The rarer recessive ataxias can be clinically classified as sensory and spinocerbellar ataxias, cerebellar ataxia with sensory-motor polyneuropathy, and purely cerebellar ataxias. Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with blindness and deafness. Examples of ataxia with sensory-motor polyneuropathy include ataxia with oculomotor apraxia 1 and 2 and spinocerebellar ataxia with neuropathy 1. Examples of purely cerebellar ataxia include autosomal recessive spastic ataxia of Charlevoix-Saguenay and ataxia with hypogonadotropic hypogonadism. This review summarizes the clinical and genetic features of these entities and concludes that the pathogenic basis of such ataxias at this time appear to involve two broad types of processes: free-radical injury and defects of DNA single- or double-strand break repair.
 ...
PMID:Rare forms of autosomal recessive neurodegenerative ataxia. 1465 6

Salt poisoning has been described under various circumstances in adult cattle. Presenting clinical signs in 6 Holstein beef cattle with such poisoning were primarily dysfunction of the central nervous system and included ataxia, opisthotonus, nystagmus, depression, muscle twitching and intermittent convulsions, as well as abdominal pain and polydipsia. Diarrhea occurred in 2, and blindness in 3/6 cattle. Hypernatremia (161.8 - 178.8 mmol/L) and hyperosmolality (331.81 - 366.18 mOsm/L) were present in all animals. To treat the affected cattle, access to fresh water was restricted, vascular volume was expanded with isotonic saline and then hypotonic fluid (5% Dextrose solution) i.v. and dexamethasone im was administered. Although biochemical parameters returned to normal reference ranges, 3/6 affected animals remained blind.
 ...
PMID:Salt poisoning in beef cattle. 1508 Feb 19

Creutzfeldt-Jakob disease (CJD) is a presenile dementia characterized by rapidly progressive mental deterioration, myoclonic jerking, and other less common neurological signs. Few autoctonous cases have been described in Brazil. A 54-year-old white woman, was admitted in our service with a month history of progressive, bilateral cortical blindness. After admission, she developed right partial motor seizures( right facial, upper and lower limbs), she became progressively aphasic( mixed aphasia). Seizures were controlled with phenytoin, but she developed choreoathetotic movements on her right dimidium, with partial control after introduction of chlorpromazine 25 mg q/d. She could no longer stand up or walk due to severe ataxia. The first EEG (October, 2001) showed left hemisphere severe seizure activity (status epilepticus partialis). She was delivered home with enteral nutrition, phenytoin, chlorpromazine and mepacrine 100 mg qd. The following laboratorial tests were negative or normal: blood series, platelets, ESR, kidney and liver function, copper, ceruloplasmin, VDRL, HIV, HTLV-1, lactate, and cerebral DSA (performed in other service).A spinal tap with normal opening pressure was perform and CSF examination was normal. CSF 14-3-3 protein was positive, CSF specific neuronal enolase 7.5 ng/ml(normal). Genetic study of PRNP gene did not disclosed any known mutation. A MRI (October, 2001) showed areas of hyperintense signal (T2 and FLAIR) without Gd-enhancement on T1, in the left temporal lobe and in both occipital lobes; basal ganglia have a normal appearance. DWI imaging showed bright areas at the same sites. An EEG (March, 2002) disclosed a periodical sharp triphasic waves pattern, suggestive of CJD. A second MRI (April, 2002) showed mild generalized atrophy, no ventricular dilatation, and the hyperintense sites disappeared. She remained clinically stable and under use of chlorpromazine and mepacrine until she died due to pulmonary complications on April, 2003.
 ...
PMID:[Creutzfeldt-Jakob disease, Heidenhain variant: case report with MRI (DWI) findings]. 1523 44

Six cows died 5 d after the owner put them in an old battery factory. The clinical symptoms were ataxia, blindness, rapid and difficult breathing, increased heart rate, tremors and coma. Necropsy was performed on 1 cow and pieces of metals were observed in the rumen. Serosal vessels of the rumen were hyperemic and slight fluid accumulation was observed in the abdominal cavity. Oedema was seen at the cerebrum. Severe necrosis and lipid accumulations were seen in the liver. All visceral organs were hyperemic. Zinc in the liver, kidney and lungs were 232, 103.5 and 97.3 ppm, respectively. Copper was 123.6 ppm in the liver 23.2 ppm in kidney and 11.8 ppm in lungs. The cadmium levels were normal, these were 66.7 ppm lead in liver, 80.5 ppm lead in kidneys and 35.8 ppm lead in lungs.
 ...
PMID:Acute lead intoxication in cattle housed in an old battery factory. 1548 47

Subacute sclerosing panencephalitis can show variations in clinical course, and some ophthalmologic abnormalities can be seen as cortical blindness and optic atrophy. A 4-year-old girl was referred to our hospital with a complaint of diplopia, vomiting, and ataxia. On physical examination, she was found to have stage IV papilledema with retinal hemorrhage. She was diagnosed as having idiopathic intracranial high pressure until magnetic resonance imaging demonstrated T2-weighted hyperintense lesions. After observation of head drop attacks and detection of elevated antimeasles antibodies in cerebrospinal fluid, the diagnosis of subacute sclerosing panencephalitis was established, and isoprinosine and carbamazepine were started for treatment. However, because carbamazepine failed to control the head drop attacks, topiramate was also included, and the attacks were kept under control with topiramate. The case presented in this article is a good example of subacute sclerosing panencephalitis in which, at early stages, some of the signs and symptoms can lead to an erroneous diagnosis. In addition, we have demonstrated that topiramate might be a good choice for treatment for the persistent myoclonus seen in this type of patient.
 ...
PMID:Unusual manifestation of subacute sclerosing panencephalitis: case with intracranial high-pressure symptoms. 1552 63

Nine weaned Labrador Retriever puppies from a litter of 11 were presented with signs of acute central nervous system (CNS) disease that included ataxia and blindness. All puppies died. Gross examination of tissues from 2 puppies revealed regionally diffuse hemorrhages in the brain stem and swollen hemorrhagic lymph nodes. Light microscopic examination of hematoxylin and eosin-stained tissues showed numerous large, basophilic intranuclear inclusion bodies within CNS vascular endothelium and occasionally in individual hepatocytes. Immunohistochemical staining of the tissue was positive using an antibody against canine adenovirus-1. Virus isolation for infectious canine hepatitis virus was achieved using inoculated cell cultures. Polymerase chain reaction amplification of DNA from cell culture material revealed shared homology with other mammalian adenoviruses.
 ...
PMID:Diagnosis of infectious canine hepatitis virus (CAV-1) infection in puppies with encephalopathy. 1569 Sep 52

Patients with Leigh syndrome classically present in early childhood with developmental regression, ataxia, and hypotonia with subsequent respiratory and brainstem dysfunction. However, the clinical presentation can be highly variable. This report presents five cases of Leigh syndrome with atypical presentations. The first patient is a 17-month-old female who presented with progressive limb weakness diagnosed as Guillain-Barre syndrome. Postmortem examination demonstrated Leigh syndrome confined to the spinal cord. The case series then describes two sisters one of whom presented at 11 years of age with central respiratory failure and encephalopathy. Her 15-year-old sister presented with a progressive diplegia. The fourth patient presented with bronchiolitis and apnea at 3 months of age due to bilateral brainstem lesions. Her second cousin presented at 6 months of age with hypotonia, blindness, and tonic seizures. All patients had laboratory and radiologic findings consistent with Leigh syndrome. Evidence of spinal cord involvement was observed on magnetic resonance imaging in four of the five patients. Leigh syndrome can involve any level of the neuroaxis, resulting in a wide variety of presentations. Many atypical variants are observed, of which clinicians should be aware. Evidence of brainstem or spinal cord involvement should also be sought in patients with Leigh syndrome.
 ...
PMID:Atypical presentations of leigh syndrome: a case series and review. 1586 34


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>