bluuebunny/crossref_metadata_2025_split huggingface dataset:
The spectrum of hippocampal sclerosis: A quantitative magnetic resonance imaging study
Authors: Van Paesschen W. , Connelly A. , King M. D. , Jackson G. D. , Duncan J. S. 
Published: January 2005

AbstractOne hundred patients with intractable temporal lobe epilepsy and 22 control subjects were scanned on 1.5‐T Siemens SP63 Magnetom scanner. A combination of hippocampal T2 mapping, hippocampal volume measurement corrected for intracranial volume, and inspection of hippocampal morphology on a hippocampal volume distribution graph compared with a control graph revealed previously undetected forms of bilateral hippocampal sclerosis and four false‐positive diagnoses of hippocampal sclerosis made on visual inspection of the scans. A physiological asymmetry in the position of the hippocampi in 41% of control subjects and focal hippocampal atrophies in patients made measurement of the whole length of the hippocampus mandatory. The extent of hippocampal damage in patients with hippocampal sclerosis correlated with the number of secondary generalized seizures during a patient's lifetime. In contrast to patients with unilateral hippocampal sclerosis, patients with severe bilateral hippocampal sclerosis had no history of febrile convulsions. Twenty‐six patients with intractable temporal lobe epilepsy had normal hippocampal magnetic resonance imaging measures and as a group were significantly older at the onset of habitual epilepsy than were patiets with hippocampal sclerosis. In conclusion, a combination of quantitative magnetic resonance imaging techniques revealed a spectrum of hippocampal sclerosis and optimally defined boundaries of hippocampal normality. The spectrum of hippocampal sclerosis is related to the etiology, the number of secondary generalized seizures, and the age at onset of habitual epilepsy.
Reversible schwann cell hyperplasia and sprouting of sensory and sympathetic neurites after intraventricular administration of nerve growth factor
Authors: Winkler Jürgen , Ramirez Gilbert A. , Kuhn H. Georg , Peterson Daniel A. , Day‐Lollini Patricia A. , Stewart Gregory R. , Tuszynski Mark H. , Gage Fred H. , Thal Leon J. 
Published: January 2005

AbstractSubstantial dysfunction and loss of cholinergic neurons occur in Alzheimer's disease (AD). Nerve growth factor (NGF) is a potent neurotrophic factor for cholinergic basal forebrain neurons, and the use of NGF to stimulate residual dysfunctional cells in AD is being considered. To define the effects of NGF on other cell populations in the brain, NGF was continuously infused into the lateral ventricle of rats for 7 weeks. At the end of treatment, Schwann cell hyperplasia and abundant sensory and sympathetic neurite sprouting were observed in the subpial region of the medulla oblongata and the spinal cord. Following withdrawal of NGF, the Schwann cell hyperplasia and sprouting of sensory and sympathetic neurites disappeared completely. These findings suggest that better temporal and spatial delivery systems for NGF must be explored to limit potential undesirable side effects while maintaining the survival and function of diseased basal forebrain cholinergic neurons.
Hereditary frontotemporal dementia is linked to chromosome 17q21—q22: A genetic and clinicopathological study of three dutch families
Authors: Heutink P. , Stevens M. , Rizzu P. , Bakker E. , Kros J. M. , Tibben A. , Niermeijer M. F. , Van Duijn C. M. , Oostra B. A. , Van Swieten J. C. 
Published: January 2005

AbstractHereditary frontotemporal dementia (HFTD) is a rare autosomal dominant form of presenile dementia characterized by behavioral changes and reduced speech. Three multigeneration kindreds with this condition, in the Netherlands, were investigated for clinicopathological comparison and linkage analysis. Frontotemporal atrophy on computed tomographic scanning and/or magnetic resonance imaging was usually present. Single‐photon emission computed tomography (SPECT) showed frontal hypoperfusion in the early phase of the disease. Brain tissue showed moderate to severe atrophy of frontal and temporal cortex with neuronal loss, gliosis, and spongiosis. Pick bodies were lacking in all cases of the 3 families. The mean age of onset varied significantly between families. We report here evidence for linkage to chromosome 17q21–q22 with a maximum lod score of 4.70 at Θ = 0.05 with the marker D17S946 and D17S791. Three other neurodenegenerative disorders with a strong clinical and pathological resemblance have recently been mapped to the same chromosomal region, suggesting that a group of clinically related neurodegenerative disorders may originate from mutations in the same gene.
Familial risk of migraine: A population‐based study
Authors: Stewart Walter F. , Staffa Judy , Lipton Richard B. , Ottman Ruth 
Published: January 2005

AbstractEstimates of familial aggregation of migraine have varied considerably due, in part, to methodological differences among studies. We concluded a population‐based study of 73 clinically confirmed probands with migraine, 72 matched control probands, and 511 of their first‐degree relatives, all of whom were directly interviewed. The risk of migraine was 50% more likely in relatives of migraine probands than in relatives of controls. Migraine risk was considerably higher among relatives of probands with disabling migraine compared with relatives of probands with minimal disability. Moreover, for probands with minimal disability, no excess risk of migraine in female relatives was observed. Finally, in relatives risk of 4.04 was observed. No excess risk was observed among relatives of male probands who had migraine without aura. This study suggests that familial factors (environment related to the family or genetic factors) account for less than one‐half of all migaine cases in the population. Degree of disability in the proband appears to influence familial risk. These results suggest that the development of migraine is determined by complex gentic as well as environmental factors.
Epidemiology of mutations in superoxide dismutase in amyotrophic lateal sclerosis
Authors: Cudkowicz M. E. , McKenna‐Yasek D. , Sapp P. E. , Chin W. , Geller B. , Hayden D. L. , Schoenfeld D. A. , Hosler B. A. , Horvitz H. R. , Brown R. H. 
Published: January 2005

AbstractWe registered 366 families in a study of dominantly inherited amyotrophic lateral sclerosis. Two hundred ninety families were screened for mutations in the gene encoding copper‐zinc cytosolic superoxide dismutase (SOD1). Mutations were detected in 68 families. The most common SOD1 mutation is an alanine for valine substitution in codon 4 (50%). We present clinical and genetic data concerning 112 families with 395 affected individuals. The clinical characteristics of patients with familial amyotrophic lateral sclerosis arising from SOD1 mutation are similar to those lacking SOD1 defects. Mean age at onset was earlier (Wilcoxon test,p= 0.004) in the SOD1 group (46.9 years [standard deviation, 12.5] vs 50.5 years [11.5] in the non‐SOD1 group). Bulbar onset was associated with a later onset age. The presence of either of two mutations, G37R and L38V, predicted an earlier age at onset. Kaplan‐Meier plots demonstrated shorter survival in the SOD1 group compared with the non‐SOD1 group at early survival times (Wilcoxon test,p= 0.0007). The presence of one mutation, A4V, correlated with shorter survival. G37R, G41D, and G93C mutations predicted longer survival. This information suggests it will be productive to investigate other genetic determinants in amyotrophic lateral sclerosis and to use epidemiological characteristics of the disease to help discern molecular mechanisms of motor neuron cell death.
Dopaminergic function in familial Parkinson's disease: A clinical and 18F‐dopa positron emission tomography study
Authors: Piccini P. , Morrish P. K. , Turjanski N. , Sawle G. V. , Burn D. J. , Weeks R. A. , Mark M. H. , Maraganore D. M. , Lees A. J. , Brooks D. J. 
Published: January 2005

AbstractThere is increasing evidence for familial aggregation in Parkinson's disease (PD). It is possible that some asymptomatic relatives of PD patients have subclinical nigral Lewy body pathology and their identification could help determine the true prevalence of the disease. We used 18F‐dopa positron emission tomography to investigate nigrostriatal dopaminergic terminal function in asymptomatic members of 7 unrelated kindreds in which at least 2 members had parkinsonism. Eight (25%) of the 32 asymptomatic relatives showed abnormal putamen 18F‐dopa uptake (2.5 standard deviations below the normal mean). When discriminant function analysis was applied, all of these 8 subjects plus another 3 were classified with high probability as having PD. On neurological examination, 5 of the 32 relatives scanned had an isolated mild postural tremor and 2 of these 5 had reduced putamen uptake. Our findings provide further support for a role of inheritance in the etiology of PD and suggest that the penetrance for nigrostriatal dopaminergic dysfunction in familial clusters of PD is higher than the prevalence of clinical parkinsonism reported in epidemiological surveys.
Involvement of the ipsilateral motor cortex in finger movements of different complexities
Authors: Chen Robert , Gerloff Christian , Hallett Mark , Cohen Leonardo G. 
Published: January 2005

AbstractFunctional imaging and behavioral studies suggest involvement of the ipsilateral hemisphere in hand movements, particularly of the left hand. If this is so, transient disturbance of the motor cortex (M1) with repetitive transcranial magnetic stimulation (rTMS) may affect ipsilateral motor sequences, and the effects may differ on the two sides. We studied 15 right‐handed subjects who played a simple and a complex piano sequence for 8 seconds each. Two seconds after the beginning of each sequence, rTMS was delivered to the ipsilateral or contralateral M1, or directed away from the head (control trial). Ipsilateral M1 stimulation on either side induced timing errors in both sequences, and with the complex sequence induced more timing errors in the left hand than in the right hand. Errors of the right hand with both sequences occurred in the stimulation period only, but errors of the left hand with the complex sequence occurred in both the stimulation and poststimulation periods. We conclude that the ipsilateral M1 is involved in fine finger movements. The left hemisphere plays a greater role in timing ipsilateral complex sequences than the right hemisphere and may be more involved in the processing of complex motor programs.
Molecular analysis of cytochromec Oxidase deficiency in Leigh's syndrome
Authors: Adams Paula L. , Lightowlers Robert N. , Turnbull Douglass M. 
Published: January 2005

AbstractCytochrome c oxidase deficiency is the most common biochemical defect associated with Leigh's syndrome. The genetic defect responsible for this deficiency has not been identified in any patient with Leigh's syndrome. Given that this disorder appears to be inherited as an autosomal recessive trait, this would suggest prima facie that one of the nuclear DNA—encoded cytochrome c oxidase subunits is affected. We report the first detailed sequence analysis of all 10 cytochrome c oxidase nuclear complementary DNAs and the cytochrome c oxidase mitochondrial genes in a Leigh's syndrome patient with cytochrome c oxidase deficiency. No pathological mutations were identified in any of the cytochrome c oxidase structural genes.
Genetic evidence for the involvement of τ in progressive supranuclear palsy
Authors: Conrad Chris , Andreadis Athena , Trojanowski John Q. , Dickson Dennis W. , Kang David , Chen Xiaohua , Wiederholt Wigbert , Hansen Larry , Masliah Eliezer , Thal Leon J. , Katzman Robert , Xia Yu , Saitoh Tsunao 
Published: January 2005

AbstractA dinucleotide repeat polymorphism in a τ intron was identified and used in a case‐control study to analyze the genetic association of τ with several neurodegenerative disease with τ pathology. Subjects with the homozygous τ AO alleles were excessively represented in the progressive supranuclear palsy (PSP) group, compared with the age‐matched healthy control group. Consequently, this allele is more frequently found in PSP than in a group of healthy subjects. This trend was not found in Alzheimer's disease or parkinsonism‐dementia complex of Guam, both of which are accompanied by major τ pathology. The result suggests τ possible involvement of τ in the pathogenesis of PSP.
Transthyretin amyloidosis: A new mutation associated with dementia
Authors: Petersen R. B. , Goren H. , Cohen M. , Richardson S. L. , Tresser N. , Lynn A. , Gali M. , Estes M. , Gambetti P. 
Published: January 2005

AbstractFamilial transthyretin (TTR) amyloidosis commonly presents with peripheral neuropathy and involvement of visceral organs. In contrast, signs of central nervous system (CNS) involvement are exceptional. We report that members of a kindred affected by a slowly progressive dementia, seizures, ataxia, hemiparesis, and decreased vision without neuropathy have TTR amyloid deposits in the leptomeninges, the brain parenchyma, and the eye. This condition, previously labeled oculoleptomeningeal amyloidosis, is linked to a mutation at codon 30 of TTR gene, resulting in the substitution of valine with glycine in this family, TTR amyloid deposits were present in the leptomeninges, especially the leptomeningeal vessels, and in the subependymal regions of the ventricular system where they disrupted the ependymal lining and resulted in amyloid‐glial formations protruding into and narrowing the ventricular system. Hydrocephalus and atrophy and infarction of cerebral and cerebellar cortexes were also present. Review of the literature shows that amyloid deposition in the leptomeninges is not uncommon in TTR amyloidoses clinically characterized by peripheral neuropathy and lack of CNS signs. The present kindred, which presented exclusively with signs of CNS involvement, expands the phenotype of TTR amyloidosis and raises questions concerning the mechanisms determining phenotypic expression in TTR familial amyloidosis.
Genetic predisposition to multiple sclerosis as revealed by immunoprinting
Authors: Epplen Cornelia , Jäckel Silke , Santos Eduardo J. M. , D'Souza Marcus , Poehlau Dieter , Dotzauer Bernd , Sindern Eckhart , Haupts Michael , Rüde Klaus‐Peter , Weber Frank , Stöver Jens , Poser Sigrid , Gehler Walter , Malin Jean‐Pierre , Przuntek Horst , Epplen Jörg T. 
Published: January 2005

AbstractThis study was designed to examine the immunogenetic background predisposing to multiple sclerosis (MS). Three hundred fifty‐eight clinically well‐characterized MS patients from Germany were investigated and compared to 395 healthy control subjects. Each individual was genotyped for 22 polymorphic markers located within or close to immunorelevant candidate genes including HLA‐DRB1*, T‐cell receptor (TCR), cell interaction molecules, cytokines, and cytokine receptor genes. Altogether, approximately 17,000 genetic analyses were performed. Patients were grouped according to the course of MS—relapsing‐remitting or chronic progressive. Most of the genetic markers were not associated with increased risk or their exact contribution was not clear (e.g., tumor necrosis factor). The relative risks for HLA‐DRB1*15+ and DRB1*03+ individuals were 3.64 and 1.42, respectively. In both groups of patients, certain TCRB gene polymorphisms were risk factors. In DRB1*03+ individuals the relative risk was increased (>22) when a specific TCRBV6S3 allele was also inherited. Furthermore, distinct linkage disequilibria of TCRBV6S1/TCRBV6S3 elements in patients and control subjects strongly suggested an additional risk factor in the TCRBV region for DRB1*15+ individuals. These findings are discussed with respect to the pathogenesis and rational approaches to the therapy of MS.
A japanese family carrying a novel mutation in the emery‐dreifuss muscular dystrophy gene
Authors: Ichikawa Yaeko , Watanabe Masahiko , Kowa Hisatomo , Murayama Shigeo , Mizuno Takehiko , Komuro Issei , Ishiki Ryouji , Goto Jun , Kanazawa Ichiro 
Published: January 2005

AbstractWe report on a Japanese family affected by Emery‐Dreifuss muscular dystrophy carrying a novel mutation of the emerin (STA) gene. The cardinal clinical feature of the family was cardiac conduction block and mild myopathy. A deletion of 11 bp with a frameshift was identified in exon 6, causing truncation of the predicted protein. The relationship between mutation and phenotype is discussed.
Health‐related quality of life and seizure control in temporal lobe epilepsy
Authors: McLachlan Richard S. , Rose Kristopher J. , Derry Paul A. , Bonnar Casey , Blume Warren T. , Girvin John P. 
Published: January 2005

AbstractWe conducted a prospective study over 24 months to compare health‐related quality of life in surgically and medically treated patients with intractable temporal lobe epilepsy. Seizure frequency and health‐related quality of life were assessed in 81 patients before and 6, 12, and 24 months after treatment. Using the Epilepsy Surgery Inventory 55 (ESI‐55), we compared (1) different seizure outcome groups and (2) temporal lobectomy with continuing medical management. Follow‐up was satisfactory in 72 patients (89%), 51 treated with temporal lobectomy and 21 with no surgery. Pretreatment seizures and health‐related quality of life were comparable in the two groups. Seizure outcome was significantly better at 6, 12, and 24 months after surgery. At 24 months, seizure‐free patients and those with at least a 90% reduction in seizure frequency reported significant improvements in health‐related quality of life (on 5 of 10 subscales and overall Epilepsy Surgery Inventory 55 scale). Deterioration in quality of life occurred with less than 90% seizure reduction. Only one Epilepsy Surgery Inventory 55 subscale at 6 months and two subscales at 12 months showed a significant difference. Patients with good seizure outcome experience improved health‐related quality of life after treatment. Since temporal lobectomy results in considerably better seizure control than continued medical management, the findings support surgery as the preferred treatment, although changes in health‐related quality of life may not be evident until the second postoperative year.
Correlation of widespread preoperative magnetic resonance imaging changes with unsuccessful surgery for hippocampal sclerosis
Authors: Sisodiya S. M. , Moran N. , Free S. L. , Kitchen N. D. , Stevens J. M. , Harkness W. F. J. , Fish D. R. , Shorvon S. D. 
Published: January 2005

AbstractDespite meticulous preoperative assessment, about 30% of patients with refractory partial epilepsy due to hippocampal sclerosis fail to become seizure free after appropriate temporal lobe surgery. Perioperative complications, hippocampal remnants, and bitemporal disease do not account for all failures; extrahippocampal epileptogenic tissue must persist in some patients. Such dual pathology is detected on routine visual inspection of magnetic resonance images in about 15% of patients with hippocampal sclerosis, but most such patients are excluded from surgery. We postulated that some patients have occult extrahippocampal cerebral structural abnormalities (i.e., subtle dual pathology) and that the presence of these abnormalities would be associated with a poor surgical outcome. Quantitative postprocessing of preoperative magnetic resonance images from 27 patients subsequently proved to have hippocampal sclerosis demonstrated extrahippocampal structural abnormalities in 14, 10 of whom did not become seizure free, while 11 of 13 patients without such changes did become seizure free (χ2, p < 0.005). Such structural information may supplement clinical decision making in some patients being evaluated for epilepsy surgery and help to explain the biological basis of poor outcome from such surgery.
Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: Dentatorubral‐pallidoluysian atrophy, machado‐joseph disease, and spinocerebellar ataxia type 1
Authors: Hashida Hideji , Goto Jun , Kurisaki Hiroshi , Mizusawa Hidehiro , Kanazawa Ichiro 
Published: January 2005

AbstractThree autosomal dominant spinocerebellar ataxias, dentatorubral‐pallidoluysian atrophy (DRPLA), Machado‐Joseph disease (MJD), and spinocerebellar ataxia type 1 (SCA1), are associated with the expansion of a CAG repeat in the respective genes. To investigate the association between CAG repeat expansion and neuropathological findings, we analyzed several brain regions from 9 cases of DRPLA, 3 cases of MJD, and 1 case of SCA1. We found that the expanded alleles were smaller in the cerebellar cortex than in other brain regions, such as the frontal cortex, in these three diseases. The discrepancy in the expanded CAG repeat length between cerebellar cortex and other tissues was most prominent in DRPLA, and especially in cases of adult‐onset DRPLA. A significant correlation was found between the age at onset of DRPLA and the size of the CAG repeat expansion. Cerebella of DRPLA patients were microscopically dissected into three layers, the molecular and granularlayers and the white matter, which were analyzed separately. The lower level of CAG repeat expansion in DRPLA cerebella was representative of CAG repeat expansion in the granule cells. The microdissected samples of the granular layer of the hippocampal formation, which is densely packed with neuronal cells, revealed that the degree of CAG repeat expansion in this layer was similar to that in the cerebellum. These observations suggest that granule cells in the cerebellum and hippocampus have low levels of CAG repeat expansion, and that other types of cells exhibit a higher level of CAG repeat expansion, in spinocerebellar ataxias.
Cortical peptide changes in Huntington's disease may be independent of striatal degeneration
Authors: Mazurek Michael F. , Garside Sarah , Beal M. Flint 
Published: January 2005

AbstractPatients with Huntington's disease (HD) develop pathological changes in cerebral cortex as well as in striatum. We studied levels of neuropeptide immunoreactivity in 13 areas of postmortem cerebral cortex dissected from 24 cases of HD and 12 controls. Concentrations of immunoreactive cholecystokinin (CCK‐LI) were consistently elevated 57 to 153% in HD cortex. Levels of vasoactive intestinal polypeptide (VIP‐LI) and neuropeptide Y (NPY‐LI) were significantly increased in 10 and 8 of the 13 cortical regions, respectively. Concentrations of somatostatin (SRIF‐LI) were increased in only 3 areas, while substance P (SP‐LI) was, for the most part, unchanged. Detailed analyses of the CCK‐LI and VIP‐LI data showed there to be no relationship between the increased cortical peptide levels and the degree of stiatal atrophy. We studied the same cortical peptides in rats with long‐standing stiatal lesions and found no significant changes of CCK‐LI, NPY‐LI, VIP‐LI, or SIRF‐LI in any of the 8 cortical regions that were examined. These results indicate that there are widespread and differential changes in cortical neuropeptide sysems in HD and that these changes occur independently of the striatal pathology that characterizes the illness.