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Cerebellar Atrophy (cerebellar + atrophy)
Selected AbstractsForty-one year follow-up of childhood-onset opsoclonus-myoclonus-ataxia: Cerebellar atrophy, multiphasic relapses, and response to IVIG,MOVEMENT DISORDERS, Issue 6 2002Michael R. Pranzatelli MD Abstract We report on an adult with opsoclonus-myoclonus-ataxia syndrome experiencing widely spaced neurological relapses, who was followed for 41 years. His responses to treatment are described. © 2002 Movement Disorder Society [source] Cerebral Damage in Epilepsy: A Population-based Longitudinal Quantitative MRI StudyEPILEPSIA, Issue 9 2005Rebecca S. N. Liu Summary:,Purpose: Whether cerebral damage results from epileptic seizures remains a contentious issue. We report on the first longitudinal community-based quantitative magnetic resonance imaging (MRI) study to investigate the effect of seizures on the hippocampus, cerebellum, and neocortex. Methods: One hundred seventy-nine patients with epilepsy (66 temporal lobe epilepsy, 51 extratemporal partial epilepsy, and 62 generalized epilepsy) and 90 control subjects underwent two MRI brain scans 3.5 years apart. Automated and manual measurement techniques identified changes in global and regional brain volumes and hippocampal T2 relaxation times. Results: Baseline hippocampal volumes were significantly reduced in patients with temporal lobe epilepsy and could be attributed to an antecedent neurologic insult. Rates of hippocampal, cerebral, and cerebellar atrophy were not syndrome specific and were similar in control and patient groups. Global and regional brain atrophy was determined primarily by age. A prior neurologic insult was associated with reduced hippocampal and cerebellar volumes and an increased rate of cerebellar atrophy. Significant atrophy of the hippocampus, neocortex, or cerebellum occurred in 17% of patients compared with 6.7% of control subjects. Patients with and without significant volume reduction were comparable in terms of seizure frequency, antiepileptic drug (AED) use, and epilepsy duration, with no identifiable risk factors for the development of atrophy. Conclusions: Overt structural cerebral damage is not an inevitable consequence of epileptic seizures. In general, brain volume reduction in epilepsy is the cumulative effect of an initial precipitating injury and age-related cerebral atrophy. Significant atrophy developed in individual patients, particularly those with temporal lobe and generalized epilepsy. Longer periods of observation may detect more subtle effects of seizures. [source] MRI Volumetric Analysis in Rasmussen Encephalitis: A Longitudinal StudyEPILEPSIA, Issue 2 2003Masanori Takeoka Summary: ,Purpose: Rasmussen encephalitis is a progressive inflammatory process with difficult-to-control focal or lateralized seizure activity, leading to hemispheric dysfunction and atrophy in advanced stages. Anatomic changes of atrophy may be subtle in earlier phases of the disease, and progressive changes on serial scans may be difficult to detect. We report a case of early-stage Rasmussen encephalitis with a relatively stable clinical course in whom we performed magnetic resonance imaging (MRI)-based volumetric analysis over an interval of 1 year, to assess for volumetric changes. Methods: Volumetric analysis was performed on two successive MRI scans obtained at age 5 and 6 years, by using the CARDVIEWS program (J Cogn Neurosci, 1996). The images were segmented into gray- and white-matter structures according to signal intensity of their borders semiautomatically, with manual corrections. The cerebral cortex was further subdivided into smaller parcellation units according to anatomic landmarks identifiable on MRI. Results: Stable left cerebral hemispheric atrophy and progressive atrophy in the left precentral gyrus, left inferior frontal gyrus, and left cerebellar atrophy were detected over the 1-year interval. Conclusions: Volumetric analysis enables early detection and quantification of anatomic changes, identification of focal involvement, and assists in determining the severity of disease and timing for surgical interventions such as hemispherectomy. [source] Clinical and imaging characterization of a patient with idiopathic progressive ataxia and palatal tremorEUROPEAN JOURNAL OF NEUROLOGY, Issue 8 2007R. Cilia We describe clinical and imaging features of a patient with sporadic progressive ataxia and palatal tremor (PAPT) of unknown etiology. There was hypertrophy of bilateral inferior olivary nuclei with hyperintense T2-weighted signal and mild cerebellar atrophy at brain magnetic resonance imaging. 18F-fluoro-2-desoxy- d -glucose positron emission tomography scanning (FDG-PET) showed hypometabolism in the red nucleus, external globus pallidus and precuneus while FP-CIT-SPECT imaging revealed mild and progressive loss of striatal dopaminergic terminals. Our findings suggest that in idiopathic PAPT involvement of the dentato-rubro-olivary pathway occurs along with some dopaminergic dysfunction. [source] Impact of cerebrospinal fluid contamination on brain metabolites evaluation with 1H-MR spectroscopy: A single voxel study of the cerebellar vermis in patients with degenerative ataxiasJOURNAL OF MAGNETIC RESONANCE IMAGING, Issue 1 2009Laura Guerrini MD PhD Abstract Purpose To investigate the impact of cerebrospinal fluid (CSF) contamination on metabolite evaluation in the superior cerebellar vermis with single-voxel 1H-MRS in normal subjects and patients with degenerative ataxias. Materials and Methods Twenty-nine healthy volunteers and 38 patients with degenerative ataxias and cerebellar atrophy were examined on a 1.5 Tesla scanner. Proton spectra of a volume of interest placed in the superior vermis were acquired using a four TE PRESS technique. We calculated N-acetyl aspartate (NAA)/creatine (Cr), choline (Cho)/Cr, and NAA/Cho ratios, T2 relaxation times and concentrations of the same metabolites using the external phantom method. Finally, concentrations were corrected taking into account the proportion of nervous tissue and CSF, that was determined as Volume Fraction (VF). Results In healthy subjects, a significant difference was observed between metabolite concentrations with and without correction for VF. As compared to controls, patients with ataxias showed significantly reduced NAA/Cr and NAA concentrations, while only corrected Cr concentration was significantly increased. The latter showed an inverse correlation with VF. Conclusion CSF contamination has a not negligible effect on the estimation of brain metabolites. The increase of Cr concentration in patients with cerebellar atrophy presumably reflects the substitutive gliosis which takes place along with loss of neurons. J. Magn. Reson. Imaging 2009;30:11,17. © 2009 Wiley-Liss, Inc. [source] Effectiveness and safety of treatments for degenerative ataxias: A systematic review,MOVEMENT DISORDERS, Issue 8 2009M.Mar Trujillo-Martín PhD Abstract The aim of this study was to determine the effectiveness and safety of available treatment alternatives for degenerative ataxias (DA). We systematically reviewed studies that assess pharmacological, rehabilitative, or psychological treatments in patients with DA. Studies were included if they fulfilled prespecified criteria. All included clinical trials were scored for methodological quality. Main outcome measures were clinical status of neurological disorder, adverse events, and patient-based factors. Twenty-five studies were included. Most studies were of small sample sizes, wide age variations, and low scientific validity. Only one study gave information on physical rehabilitation and none on psychological therapy. The remaining 24 studies reported on the effects of different pharmacological treatments. Outcomes such as functional capacity and psychological functioning of patients were evaluated by few studies. Some evidence supports that 5-hydroxytryptophan is more effective than placebo improving neurological symptoms in patients with Friedreich ataxia (FA), olivopontocerebellar atrophy, or cerebellar atrophy. Idebenone is more effective than placebo for halting and reversing the hypertrophic cardiomyopathy associated with FA, but it seems unable to improve neurological semiology. Limited evidence for other therapies was found. No relevant side effects for drugs that shown some degree of effectiveness were reported. Availability of quality studies to evaluate the safety and efficacy of treatments for most DA is scarce. No valid information on the actual value of physical rehabilitation and psychological support as treatments for DA is available. Further investigations with improved trial designs are necessary. © 2009 Movement Disorder Society [source] Mutations in PEX10 are a cause of autosomal recessive ataxiaANNALS OF NEUROLOGY, Issue 2 2010Luc Régal MD Peroxisomal biogenesis disorders typically cause severe multisystem disease and early death. We describe a child and an adult of normal intelligence with progressive ataxia, axonal motor neuropathy, and decreased vibration sense. Both patients had marked cerebellar atrophy. Peroxisomal studies revealed a peroxisomal biogenesis disorder. Two mutations in PEX10 were found in the child, c.992G>A (novel) and c.764_765insA, and in the adult, c.2T>C (novel) and c.790C>T. Transfection with wild-type PEX10 corrected the fibroblast phenotype. Bile acid supplements and dietary restriction of phytanic acid were started. Peroxisomal biogenesis disorders should be considered in the differential diagnosis of autosomal recessive ataxia. ANN NEUROL 2010;68:259,263 [source] Characterization of PLA2G6 as a locus for dystonia-parkinsonismANNALS OF NEUROLOGY, Issue 1 2009Coro Paisan-Ruiz PhD Background Although many recessive loci causing parkinsonism dystonia have been identified, these do not explain all cases of the disorder. Methods We used homozygosity mapping and mutational analysis in three individuals from two unrelated families who presented with adult-onset levodopa-responsive dystonia-parkinsonism, pyramidal signs and cognitive/psychiatric features, and cerebral and cerebellar atrophy on magnetic resonance imaging but absent iron in the basal ganglia. Results We identified areas of homozygosity on chromosome 22 and, subsequently, PLA2G6 mutations. Interpretation PLA2G6 mutations are associated with infantile neuroaxonal dystrophy and have been reported previously to cause early cerebellar signs, and the syndrome was classified as neurodegeneration with brain iron accumulation (type 2). Our cases have neither of these previously pathognomic features. Thus, mutations in PLA2G6 should additionally be considered in patients with adult-onset dystonia-parkinsonism even with absent iron on brain imaging. Ann Neurol 2008 [source] The P/Q-type voltage-dependent calcium channel: a therapeutic target in spinocerebellar ataxia type 6ACTA NEUROLOGICA SCANDINAVICA, Issue 5 2007J. Gazulla Background,,, Voltage-dependent calcium channels (VDCCs) are heteromultimeric complexes that mediate calcium influx into cells; the ,1A subunit is the pore-forming subunit specific to the neuronal P/Q-type VDCCs. Spinocerebellar ataxia type 6 (SCA 6) is caused by an abnormal expansion of a CAG repeat in CACNA1A, which encodes the ,1A subunit. Heterologous expression of mutated ,1A subunits resulted in increased channel inactivation in electrophysiological tests. Gabapentin and pregabalin interact with the ,2, subunit of the VDCCs and improved ataxia in cases of cortical cerebellar atrophy (CCA) and ataxia-telangiectasia. Materials and methods,,, A bibliographical review was performed in order to find out if gabapentin and pregabalin coud prove useful in the treatment of SCA 6. Results,,, Gabapentin and pregabalin slowed the rate of inactivation in recombinant P/Q-type VDCCs. SCA 6 shares neuropathological findings with CCA. Conclusions,,, On the basis of the neuropathological identity of SCA 6 with CCA, and of the effect of gabapentin and pregabalin on recombinant VDCCs the authors put forward the hypothesis that these drugs might prove beneficial in SCA 6, as the ataxia would be expected to improve. The authors hope that researchers working with this illness will be encouraged to undertake the appropriate clinical and experimental work. [source] | ||||||||||