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)

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, deterioration of motor function with ataxia, spasticity and mental decline. It has been revealed that the mutations in the gene, KIAA0027, were responsible for MLC and the gene was renamed subsequently 'MLC1'. A 41-year-old Japanese male with MLC, in whom a homozygous missense mutation, TCG to TTG at codon 93 resulting in S93L, was detected in the MLC1 gene, was described. MRI revealed marked cerebral atrophy and enlargement of the ventricular system. The subject's motor function had severely deteriorated, while his cognitive function had maintained at the level of a 2-year-old for the past 10 years. The mutation in the MLC1 gene of the patient is considered to be a common mutation responsible for MLC in Japanese patients because the same mutation had been detected in two other Japanese patients with MLC.
 ...
PMID:A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. 1285 May 17

Despite knowledge emerging over the last 40 years, the postoperative results after shunt implantation in patients diagnosed with normal-pressure hydrocephalus (NPH) have not improved significantly over the last decade. For that reason predictors have to be identified in order to preoperatively predict outcome. From 1982 to 2000 we prospectively studied 200 patients diagnosed with NPH. From the patients, who were surgically treated by a shunt implantation we reexamined 155 (78%) postoperatively a mean time interval of 7 months. The NPH was graded according to the results of the intrathecal infusion test in an early stage NPH (without brain atrophy) and late stage NPH (with brain atrophy). In our study, we focussed attention on the possible predictors: patients age, length of disease, clinical signs (gait ataxia, dementia and bladder incontinence), aetiology idiopathic/secondary as well as implanted valve type and the value of resistance to cerebrospinal fluid outflow. To measure the outcome we used the NPH recovery rate and as the statistical test the chi(2) according to Pearson. In 80 patients with an early stage NPH (without cerebral atrophy), a short course of disease (<1 year), a slight degree of dementia and an implanted Miethke-Dual-Switch valve were significant predictors for a positive postoperative outcome. The outflow resistance measured in the intrathecal infusion test showed only a minimal relevance to outcome. Those 75 patients with a late state NPH (with cerebral atrophy) had a better outcome when dementia was not present, the outflow resistance was above 20mm Hg/min/ml, the CSF tap-test was positive and a Miethke-Dual-Switch valve was implanted.
 ...
PMID:Predictors of outcome in patients with normal-pressure hydrocephalus. 1285 85

Lymphomatoid granulomatosis (LYG)/angiocentric immunoproliferative lesions (AIL) consist of angiocentric and angiodestructive lymphoreticular proliferation predominantly involving the lungs and other extranodal sites, such as the central nervous system (CNS). This clinical entity is considered as a B cell process related to Epstein-Barr virus (EBV) infection and EBV positive diffuse large B-cell lymphoma. The CNS is involved in 20% of cases of LYG, but initial involvement is rare. In cases without pulmonary symptoms, diagnosis may be difficult. We report a rare case involving initial progression of CNS symptoms followed by a pulmonary abnormality.A 14-year-old girl suffered from high fever, ataxic gait and paraparesis. MRI revealed diffuse T2 high signals with multiple gadolinium enhancements in the cerebellum, brain stem and cerebral white matter. Her symptoms briefly improved after steroid therapy, but ataxia gradually progressed. Dyspnea due to pulmonary interstitial involvement appeared when she was 18 years old. Steroid therapy proved effective for respiratory symptoms. At 20 years old she suffered from disseminated intravascular coagulopathy (DIC) and hemophagocytic syndrome (HPS) with respiratory symptoms and repeated seizures. Her symptoms improved after the administration of cyclophosphamide. Mild hemiparesis and gait disturbance appeared when she was 22 years old. MRI revealed new lesions at the basal ganglia and subcortical white matter, brain atrophy and diffuse T2 high intensity of cerebral white matter. Cyclophosphamide was effective and there has been no recurrence of symptoms in the last 5 years. We reviewed the non-tumorous LYG/AIL involving the CNS, and discussed the clinical features, MRI imaging and diagnosis of the LYG/AIL.
 ...
PMID:A case of lymphomatoid granulomatosis/angiocentric immunoproliferative lesion with long clinical course and diffuse brain involvement. 1287 57

Despite emerging knowledge of over 40 years, the postoperative results after shunt implantations in patients diagnosed for normal-pressure hydrocephalus (NPH) have not improved significantly in the last decade. For this reason, predictors have to be identified in order to preoperatively predict the course of disease. From 1982 to 2000, we examined in a prospective study 200 patients diagnosed for NPH. Of the patients who were surgically treated by a shunt implantation we could re-examine 155 (78%) in a mean time interval of 7 months after operation. The NPH was graduated according to the results of the intrathecal infusion test in an early state NPH (without brain atrophy) and late state NPH (with brain atrophy). In the study we focused our attention on the possible predictors: patient's age, length of disease, clinical signs--like gait ataxia, dementia and bladder incontinence, etiology idiopathic/secondary as well as implanted valve type and the value of resistance to cerebrospinal fluid outflow. To measure the outcome we used the NPH recovery rate, as statistical test the chi(2) according to Pearson. In 80 patients with an early stage NPH (without cerebral atrophy) and a short course of disease (<1 year), slightly distinct dementia and an implanted Miethke Dual-Switch valve were significant predictors for a positive postoperative outcome. The outflow resistance measured in the intrathecal infusion test showed only a minimal relevance for the outcome. Those 75 patients with a late state NPH (with cerebral atrophy) had a better outcome when dementia was not present, the outflow resistance was >20 mm Hg.min/ml, the CSF tap test was positive and a Miethke Dual-Switch valve was implanted.
 ...
PMID:Predictors of outcome in patients with normal-pressure hydrocephalus. 1466 Aug 79

An 11-year-old boy was evaluated for progressive ataxia, cognitive deterioration, and ophthalmoplegia. The child initially presented with abnormal eye movements at the age of 2 months and was noted to have developmental delay at 6 months. At the age of 7 years, he developed ataxia and cognitive impairment, and subsequently manifested dysphagia and incontinence. The pertinent family history included gait difficulty in the paternal grandmother. At the age of 11, his general physical examination was normal. On neurological examination, he had bilateral external ophthalmoplegia, ataxic dysarthria, dysmetria and tremor in the upper extremities, and marked gait ataxia. An ophthalmological evaluation showed no evidence of pigmentary retinopathy. Brain MRI demonstrated cerebellar, brainstem, and cerebral atrophy. An ataxia panel showed 62 repeats in one allele of the SCA2 gene. Most cases of spinocerebellar ataxia type 2 (SCA2) present between 20 years and 40 years, and affected individuals typically have between 34 and 57 CAG repeats. Neonatal cases of SCA2 have been reported in individuals with over 200 CAG repeats. Childhood SCA2 has been reported previously in two patients but not described clinically. This case broadens the spectrum of the clinical features of infantile-onset SCA2 and highlights the importance of considering this diagnosis in infants and children.
 ...
PMID:Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy. 1473 88

Despite emerging knowledge over 40 years, the postoperative results after shunt implantations in patients diagnosed for normal pressure hydrocephalus (NPH) did not improve significantly during the last decade. For that reason predictors have to be identified in order to predict preoperatively the course of disease. From 1982 until 2000 we examined in a prospective study 200 patients diagnosed for NPH. From the patients, who were surgically treated by a shunt implantation we could reexamine 155 (78%) in a meantime interval of seven month after the operation. The NPH was graduated according to the results of the intrathecal infusion test in an early state NPH (without brain atrophy) and late state NPH (with brain atrophy). In our study, we focussed the attention on the possible predictors: patients age, length of disease, clinical signs--like gait ataxia, dementia and bladder incontinence, aetiology idiopathic/secondary as well as implanted valve type and the value of resistance to cerebrospinal fluid outflow. To measure the outcome we used the NPH-Recovery-Rate, as statistical test the Chi-square according to Pearson. In 80 patients with an early stage NPH (without cerebral atrophy) a short course of disease (< 1 year), a just slight distinct of dementia and an implanted Miethke-Dual-Switch valve were significant predictors for a positive postoperative outcome. The outflow resistance measured in the intrathecal infusion test showed only a minimal relevance for the outcome. Those 75 patients with a late state NPH (with cerebral atrophy) had a better outcome when dementia was not present, the outflow resistance was above 20 mm Hg*min/ml, the CSF tap-test was positive and a Miethke-Dual-Switch valve was implanted.
 ...
PMID:[Predictors of outcome in patients with normal pressure hydrocephalus]. 1511 17

A wide variety of autosomal transmitted ataxias exist and their ultimate characterization requires genetic testing. Common clinical characteristics among different ataxia types complicate the choice of the appropriate genetic test. Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) generally show cerebellar or cerebral atrophy and perturbed metabolite levels which differ between ataxias. In order to help the clinician accurately identify the ataxia type, reported MRI and MRS data in different brain regions are summarized for more than 60 different types of autosomal inherited and sporadic ataxias.
 ...
PMID:Characterization of ataxias with magnetic resonance imaging and spectroscopy. 1526 75

The fragile X mental retardation 1 gene (FMR1) mutation causes two disorders: fragile X syndrome (FXS) in those with the full mutation and the fragile X-associated tremor/ataxia syndrome (FXTAS) in some older individuals with the premutation. FXS is caused by a deficiency of the FMR1 protein (FMRP) leading to dysregulation of many genes that create a phenotype with ADHD, anxiety, and autism. FXTAS is caused by the elevation of FMR1-mRNA to levels 2 to 8 times normal in the premutation. This causes an RNA gain of function toxicity leading to brain atrophy, white matter disease, neuronal and astrocytic inclusion formation, and subsequent ataxia, intention tremor, peripheral neuropathy, and cognitive decline. The neurobiology and pathophysiology of FXS and FXTAS are described in detail.
 ...
PMID:Lessons from fragile X regarding neurobiology, autism, and neurodegeneration. 1651 73

From 1982 until 2000 we examined 200 patients diagnosed with normal-pressure hydrocephalus (NPH) in a prospective study. From the patients who were surgically treated by a shunt implantation we could re-examine 155 (78%) at a mean time interval of 7 months after the operation. NPH differed in severity according to the results of the intrathecal infusion test in an early state NPH (without brain atrophy) and late state NPH (with brain atrophy). In our study, we focused on the possible predictors: patient age; length of disease; clinical signs including gait ataxia, dementia, and bladder incontinence; idiopathic vs. secondary origin; implanted valve type and the resistance of the valve to cerebrospinal fluid outflow. In 80 patients without cerebral atrophy and a short course of disease (< 1 year), a slight amount of dementia and an implanted Miethke Dualswitch-Valve were significant predictors for a positive postoperative outcome. The outflow resistance measured in the intrathecal infusion test showed only minimal relevance for outcome. Seventy-five patients with cerebral atrophy had a better outcome when dementia was not present, outflow resistance was above 20 mmHg/mL/min, the CSF tap-test was positive, and a Miethke Dualswitch-Valve was implanted.
 ...
PMID:Predictors of outcome in patients with normal-pressure hydrocephalus. 1667 84

The patient was 66 year-old man with no family history of neurological diseases. At age 51, he showed initial symptom of parkinsonism, and was revealed a cerebellar atrophy by CT at age 52. He was suffered from malignant syndrome followed by renal dysfunction, which needed hemodialysis therapy. At age 54, he admitted to our hospital, when he showed parkinsonism, ataxia and dysautonomia. Neuroimaging study disclosed typical findings of multiple system atrophy (MSA), and dilatation of inferior horn of the lateral ventricle. In the next year, he lost of amburatory function, and showed low cognitive function of 5 scores in HDSR. At age 57, he was tracheostomised because of complete paralysis of the vocal cord abductor muscles. MRI study disclosed marked temporal lobe atrophy. He was complicated with bladder carcinoma, and died of multiple organ failure at age 66. The brain weight was 1,115 g. Gross neuropathological findings were temporal lobe dominant cerebral atrophy and marked pontocerebellar atrophy. Meningitis and sepsis were seen in the cerebrum, and some infarctions in the temporal and frontal lobes. Besides the typical degenerative findings of MSA, remarkable temporal lobe atrophy with enlargement of the inferior horn of lateral ventricle was observed. There were numerous number of neuron containing neuronal inclusion body (NCI) in the hippocampal cortex, dentate fascia and parahippocampal gyrus. In spite of small amount of NFT in the parahippocampal gyrus, there were no se- nile plaque, tau-positive structure except NFT, argyrophilic grain or Pick body. This case was a long-survived MSA with remarkable atrophy of the temporal lobe. The characteristic neuropathological finding was numerous numbers of neurons containing NCI in the cotices arround the inferior horn. Although frontal lobe dominant cerebral lobe atrophy is common in the long-survived MSA cases, extreme temporal lobe atrophy is rare condition. There may be a MSA subtype strongly affecting temporal lobe with numerous NCI.
 ...
PMID:[An autopsy case of long-course multiple system atrophy (MSA) with remarkable atrophy and numerous NCI in the temporal lobe]. 1678 56


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