bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neuroanatomy of Rett syndrome: A volumetric imaging study
Authors: Reiss Allan L. , Faruque Faisal , Naidu Sakkubai , Abrams Michael , Beaty Terri , Bryan R. Nick , Moser Hugo 
Published: January 2005

AbstractRett syndrome is a pediatric neurological disorder of unknown etiology defined by the presence of severe neurodevelopment decline, acquired microcephaly, dementia, abnormalities of movement, autistic behavior, and seizures in young female children. In this study, the neuroanatomy of 11 females with Rett syndrome and 15 age‐ and gender‐matched control subjects ws investigated in vivo with quantitative neuroimaging techniques. Compared to control subjects, the patients with Rett syndrome were found to have significantly reduced cerebral volume; evidence of greater loss of gray matter in comparison to white matter; regional variation in cortical gray matter, with the frontal regions showing the largest decrease; and reduced volume of the caudate nucleus and midbrain, even when taking into account general reduction in the size of the brain. In addition, there was no evidence of an ongoing degenerative process in this sample of girls with Rett syndrome. The consistency of these data with results from neuropathological investigations points to the need for continued quantitative neuroimaging studies of children with this condition. In particular, research employing serial longitudinal scans of very young children manifesting early signs of the clinical syndrome holds promise for helping to elucidate the neuropathological pathways leading to the debilitating clinical manifestations of Rett syndrome.
Decreased hippocampal muscarinic cholinergic receptor binding measured by 123I‐iododexetimide and single‐photon emission computed tomography in epilepsy
Authors: Müller‐Gärtner Hans W. , Mayberg Helen S. , Fisher Robert S. , Lesser Ronald P. , Wilson Alan A. , Ravert Hayden T. , Dannals Robert F. , Wagner Henry N. , Uematsu Sumio , Frost J. James 
Published: January 2005

AbstractRegional binding of 123I‐iododexetimide, a muscarinic acetylchline receptor antagonist, was measured in vivo in the temporal lobes of 4 patients with complex partial seizures using single‐photon emissions computed tomography. In the anterior hippocampus ipsilateral to the electrical focus, 123I‐iododexetimide binding was decreased by 40 ± 9% (mean 7plusmn; SD, p <0.01) compared with the contralateral hippocampus; 123I‐iododexetimide binding in other temporal lobe regions was symmetrical. The data indicate a regionally specific change of muscarinic acetylcholine receptor in anterior hippocampus in complex partial seizures of temporal lobe origin.
Correlation of striatal fluorodopa uptake in the MPTP Monkey with dopaminergic indices
Authors: Pate Brian D. , Kawamata T. , Yamada T. , McGeer E. G. , Hewitt K. A. , Snow B. J. , Ruth T. J. , Calne D. B. 
Published: January 2005

AbstractStriatal 18F‐6‐fluorodopa (FD) uptake constants were measured by positron emission tomography in (1) normal cynomolgus monkeys and (2) a series of cynomolgus and rhesus monkeys that had received intracarotid infusions of 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine (MPTP). After the animals were killed, the number and average size of dopaminergic neurons in the substantia nigra pars compacta were measured. Striatal levels of dopamine and its metabolites, and the striatal activities of the dopaminergic synthetic enzymes, were also determined. The striatal FD uptake constants showed highly significant positive correlations with both number and size of dopaminergic neurons, indicating atrophy of surviving neurons in MPTP‐treated animals. The uptake constants also showed significant positive correlations with striatal levels of dopamine, total catecholamines, and the activities of the synthetic enzymes. Both histochemical and biochemical data on tyrosine hydroxylase suggested some contralateral enzyme loss in these MPTP‐treated monkeys, as well as decreased enzyme activity in surviving neurons on the lesioned side. However, residual enzyme activities were apparently not rate limiting to striatal FD uptake. It is concluded that PET‐FD measurements by positron emission tomography provide a good index of the integrity of the nigrostriatal pathway.
Magnetic stimulation of the brain in generalized epilepsy: Reversal of cortical hyperexcitability by anticonvulsants
Authors: Reutens David C. , Berkovic Samuel F. , Macdonell Richard A. L. , Bladin Peter F. 
Published: January 2005

AbstractObservations on experimental models suggest that diffuse cortical hyperexcitability is an important abnormality in the generalized epilepsies. We used the threshold for transcranial magnetic stimulation as an index of motor cortical excitability in 89 neurologically normal control subjects and 56 patients with idiopathic generalized epilepsy (20 untreated and 36 chronically treated with anticonvulsants). Magnetic stimulation was repeated in 10 patients after valproate monotherapy had been commenced and in 23 control subjects. The threshold intensity was significantly lower in the untreated patients (46 ± 5% [mean ± 95% confidence interval]) than in the control subjects (56 ± 2%). Treated patients had significantly higher thresholds (64 ± 4%) than did untreated patients and control subjects. A significant increase in threshold intensity (8 ± 2%) occurred in patients retested after starting valproate; there was no significant change in retested control subjects (−1 ± 2%). Threshold intensity was positively correlated with plasma valproate levels (rs = 0.37). The findings suggest that cortical excitability is increased in idiopathic generalized epilepsy and is reduced following anticonvulsant treatment. Transcranial magnetic stimulation is of use in examining the pathophysiology of generalized epilepsy. Furthermore, changes in threshold intensity in response to anticonvulsant treatment may prove useful in guiding therapy.
Neuroglial cholinesterases in the normal brain and in Alzheimer's disease: Relationship to plaques, tangles, and patterns of selective vulnerability
Authors: Wright Christopher I. , Geula Changiz , Mesulam M.‐Marsel 
Published: January 2005

AbstractButyrylcholinesterase (BChE) and an altered form of acetylcholinesterase (AChE) accumulate in the plaques and tangles of Alzheimer's disease (AD). The sources for these plaque‐ and tangle‐bound cholinesterases have not been identified. We now report that AChE and BChE activities with pH preferences and inhibitor selectivities identical to those of plaque‐ and tangle‐bound cholinesterases are found in the astrocytes and oligodendrocytes of control and AD brains. These glial‐type cholinesterases are selectively inhibited by indolamines and protease inhibitors. In control brains glial‐type cholinesterases appear confined to the intracellular space, whereas in patients with AD they decorate plaques and tangles as well. In control and AD brains AChE‐positive glia are distributed throughout the cortical layers and subcortical white matter, whereas BChE‐positive glia reach high densities only in the deep cortical layers and white matter. In non‐AD control brains, the ratio of BChE to AChE glia was higher in entorhinal and inferotemporal cortex, two regions with a high susceptibility to the pathology of AD, than in primary somatosensory and visual cortex, two areas with a relatively lower susceptibility to the disease process. There were no age‐related differences in the density or distribution of cholinesterase‐positive glia. In comparison with age‐matched control specimens, AD brains had a significantly higher density of BChE glia and a lower density of AChE glia in entorhinal and inferotemporal regions but not in the primary somatosensory or visual areas. These results suggest that glia constitute a likely source for the cholinesterase activity of plaques and tangles and that a high ratio of BChE‐ to AChE‐positive glia may play a permissive or causative role in the neuropathology of AD.
Delayed apperance of anti–myelin‐associated glycoprotein antibodies in a patient with chronic demyelinating polyneuropathy
Authors: Valldeoriola F. , Graus F. , Steck A. J. , Muñoz E. , de la Fuente M. , Gallart T. , Ribalta T. , Bombí J. A. , Tolosa E. 
Published: January 2005

AbstractA patient who had a polyneuropathy compatible with a chronic inflammatory demyelinating polyneuropathy and was initially negative for anti‐myelin‐associated glycoprotein (MAG) antibodies developed a double monoclonal gammopathy, IgM kappa and IgM lambda, two years after the diagnosis. The IgM kappa, but not the IgM lambda, exhibited strong anti‐MAG antibody activity. The late appearance of the anti‐MAG immunoreactivity suggests that in patients with an initial diagnosis of chronic inflammatory demyelinating polyneuropathy, the search for anti‐MAG antibodies should be repeated during the course of the neuropathy.
Myelin basic protein‐specific T‐cell responses in identical twins discordant or concordant for multiple sclerosis
Authors: Martin Roland , Voskuhl Rhonda , Flerlage Marjorie , McFarlin Dale E. , McFarland Henry F. 
Published: January 2005

AbstractAlthough multiple sclerosis (MS) is thought to be an autoimmune disease, the target antigen of the immune response is unknown. Both myelin basic protein (MBP) and proteolipid protein (PLP) have been considered candidate autoantigens. Because the immune response to either foreign or self antigens is influenced by the genetic background of the host, the importance of these candidate antigens has been difficult to establish in humans because of genetic diversity. To eliminate genetic differences in MS patients and healthy controls, we have studied the MBP‐specific T‐cell response in 6 sets of identical twins, 3 of which were concordant and 3 discordant for MS. A total of 638 short‐term T‐cell lines were established and characterized for MBP‐specific proliferative and cytotoxic activity, fine specificity, and human leukocyte antigen (HLA) restriction. Similar frequencies of MBP‐specific T cells were observed in affected and unaffected individuals. A slightly higher percentage of cytotoxic T‐cell lines was found in affected individuals. For most of the cell lines, the restriction elements were the HLA class II antigens that have been reported previously to be associated with MS; no important differences with respect to HLA restriction were found between the patients and healthy individuals. The peptide epitopes of MBP that were recognized most frequently by the T‐cell lines were those previously shown to be immunodominant. Differences in specificity were seen in some discordant twins indicating that, despite genetic identity, the MBP‐specific T‐cell repertoire may be shaped differently. These findings indicate that differences in frequency, peptide specificity, or HLA restriction are not sufficient to implicate MBP‐specific T cells in the pathogenesis of MS. However, the T‐cell response to MBP may still represent one necessary component with disease occurring when this response is combined with other host characteristics such as regulation of cytokine‐, adhesion molecule‐, or HLA‐antigen expression in the nervous system or immunoregulatory mechanisms.
Pathological markers associated with normal aging and dementia in the elderly
Authors: Crystal Howard A. , Dickson Dennis W. , Sliwinski Martin J. , Lipton Richard B. , Grober Ellen , Marks‐Nelson Harriet , Antis Phyllis 
Published: January 2005

AbstractWe investigated the associations of pathological markers of Alzheimer's disease (AD) and diffuse Lewy body disease as well as possible markers of vascular dementia with cognitive function in a sample of 20 nondemented and 35 demented subjects (median age of both groups, 88 years) who had been studied prospectively for 4.0 ± 2.1 years. Very old demented subjects almost always had nonneuritic senile plaques, but over half had no neuritic senile plaques and little other AD pathology. Five subjects had cortical Lewy bodies; all were demented. We propose that hippocampal sclerosis, leukoencephalopathy, and multiple lacunae are possible markers of vascular dementia. When grouped together, these markers were significantly associated with dementia and occurred in 40% of demented subjects. As the relative frequency of neuritic markers of AD (and possibly AD itself) declines in the tenth decade, vascular dementia may become an increasingly important type of dementia.
Carbamazepine‐induced heart block in a child with tuberous sclerosis and cardiac rhabdomyoma: Implications for evaluation and follow‐up
Authors: Weig Spencer G. , Pollack Phyllis 
Published: January 2005

AbstractWe describe a young child with tuberous sclerosis and cardiac rhabdomyoma who developed reversible heart block after being placed on carbamazepine treatment for seizures. Patients of any age with known or suspected intrinsic cardiac disease should be monitored for conduction disturbance if they are treated with carbamazepine.
The pathogenesis of superficial siderosis of the central nervous system
Authors: Koeppen Arnulf H. , Dickson Andrew C. , Chu Richard C. , Thach Robert E. 
Published: January 2005

AbstractIn advanced cases of superficial siderosis of the human central nervous system, the clinical triad of hearing loss, cerebellar ataxia, and myelopathy permits the diagnosis at the bedside, and magnetic resonance imaging readily confirms the hemosiderin deposits in brainstem, cerebellum, and spinal cord. To study the pathogenesis of this condition and explain the selective vulnerability of the cerebellum, experimental siderosis was induced in rabbits by the repeated intracisternal injection of autologous red blood cells. The earliest cellular response in the cerebellar molecular layer was hyperplasia and hypertrophy of microglia as displayed by immunocytochemistry for ferritin. Microglia also contained iron, but ferritin biosynthesis appeared to proceed without commensurate iron accumulation. This early apoferritin response probably occurred due to the presence of heme, rather than iron, in the cerebrospinal fluid and subpial tissue. Ferritin biosynthesis is accelerated when the ferritin repressor protein is dissociated from ferritin messenger ribonucleic acid. A specific antiserum localized ferritin repressor protein predominantly to astrocytes including Bergmann glia. It is proposed that abundance and proximity of ferritin repressor protein–immunoreactive Bergmann glia and ferritin‐containing microglia in the cerebellar molecular layer permit prompt cellular interaction in the conversion of heme to ferritin and ultimately hemosiderin.
Spastic paraparesis associated with human T‐lymphotropic virus type I: A clinical, serological, and genomic study in Iranian‐born Mashhadi Jews
Authors: Achiron A. , Pinhas‐Hamiel O. , Doll L. , Djaldetti R. , Chen A. , Ziv I. , Avni A. , Frankel G. , Melamed E. , Shohat B. 
Published: January 2005

AbstractThe Mashhadi‐Jewish community originating in Iran is a closed and ethnically segregated population with a unique history and a high rate of intrafamilial marriage among its members. A high risk of infection by human T‐lymphotropic virus type I (HTLV‐I) and of adult T‐cell leukemia associated with such infection was found in this population. HTLV‐I is also associated with a syndrome of progressive spastic paraparesis. We therefore evaluated the occurrence of HTLV‐I infection and spastic paraparesis in Mashhadi‐born Iranian Jews who immigrated to Israel. We examined 83 Mashhadi‐born subjects (52 women, 31 men; mean age, 61 ± 15.5 years) and 73 age‐matched non‐Mashhadi Iranian‐born Jews. Blood samples were tested for HTLV‐I antibodies by particle agglutination test. The polymerase chain reaction (PCR) was used to detect HTLV‐I proviral DNA sequences from peripheral blood mononuclear cells. Fifteen Mashhadi‐born Jews (18%) were both seropositive and PCR‐positive for HTLV‐I. Four HTLV‐I‐seronegative subjects were found to be positive for HTLV‐I proviral DNA by PCR. Of the 19 HTLV‐I–infected subjects (11 women, 8 men; mean age, 59 ± 16 years), 13 (68%) had spastic paraparesis of varying severity. There were no signs of myelopathy in the Mashhadi‐born subjects who were negative for HTLV‐I proviral DNA by PCR. None of the non‐Mashhadi Iranian Jews was seropositive or PCR‐positive for HTLV‐I proviral DNA, or had clinical signs of spastic paraparesis. Our study indicates a high incidence of HTLV‐I infection and spastic paraparesis in Mashhadi‐born Iranian Jews. Possible transmission mechanisms may be related to a high rate of infection in this closed community, or to a genetically transmitted virus in a susceptible high‐inbred population.
The apolipoprotein ε4 allele in patients with Alzheimer's disease
Authors: Mayeux Richard , Stern Yaakov , Ottman Ruth , Tatemichi Thomas K. , Tang Ming‐Xin , Maestre Gladys , Ngai Colleen , Tycko Benjamin , Ginsberg Henry 
Published: January 2005

AbstractApolipoproein E (APO‐E) binds to the β‐amyloid peptide and is present in senile neuritic plaques in Alzheimer's disease (AD). The ε4 isoform of APO‐E has been associated with both sporadic and familial late‐onset AD, implying a causal role. Among patients and control subjects similar in age, gender, and ethnic group from the New York City community of Washington Heights‐Inwood, we found that the odds ratio (OR) for AD associated with homozygosity for APO‐ε4 was 17.9 (95% confidence interval [CI], 4.6–69.8) and that associated with heterozygosity for APO‐ε4 was 4.2 (95% CI, 1.8–9.5), compared with persons with other APO‐E genotypes. The association was stronger among patients with sporadic disease (OR = 10.3; 95% CI, 3.4–31.1) than among those with a family history of dementia in a first‐degree relative (OR = 0.9; 95% CI, 0.1–13.5). The association between APO‐ε4 and AD did not differ according to age at onset (<65 vs ≥65), but appeared to vary across the 3 ethnic groups investigated (black, Hispanic, and white). Our data confirm the association between AD and APO‐ε4 and support the hypothesis that the APO‐ε4 allele either confers genetic susceptibility to AD or may be in linkage disequilibrium with another susceptibility locus. Ethnic variability in the allelic frequency of APO‐ε4 in the elderly warrants further investigation.
Characteristics of medial temporal lobe epilepsy: II. Interictal and ictal scalp electroencephalography, neuropsychological testing, neuroimaging, surgical results, and pathology
Authors: Williamson P. D. , French J. A. , Thadani V. M. , Kim J. H. , Novelly R. A. , Spencer S. S. , Spencer D. D. , Mattson R. H. 
Published: January 2005

AbstractSixty‐seven patients with temporal lobe epilepsy without circumscribed, potentially epileptogenic lesions, who were studied with intracranial electrodes and who became seizure free following temporal lobectomy were retrospectively evaluated with regard to preoperative scalp electroencephalographic (EEG) findings, neuropsychological test results, neuroimaging findings, results of surgery, and pathology of resected tissue. Interictal scalp EEG showed paroxysmal abnormalities during prolonged monitoring in 64 patients (96%). These were localized in the anterior temporal region in 60 (94%) of these 64 patients. Bilateral independent paroxysmal activity occurred in 42% of the patients and was preponderant over the side of seizure origin in half. Ictal EEG changes were rarely detected at the time of clinical seizure onset, but lateralized buildup of rhythmic seizure activity during the seizure occurred in 80% of patients. In 13%, the scalp EEG seizure buildup was, however, contralateral to the side of seizure origin as subsequently determined by depth EEG and curative surgery. Lateralized postictal showing, when present, was a very reliable lateralizing finding. Neuropsychological testing provided lateralizing findings concordant with the side of seizure origin in 73% of patients. When neuropsychological testing produced discordant results or nonlateralizing findings, those patients were usually found to have right temporal seizure origin. Intracarotid amobarbital (Amytal) testing demonstrated absent or marginal memory functions on the side of seizure onset in 63% of patients, but 26 patients (37%) had bilaterally intact memory. In those patients who had magnetic resonance imaging, it was very sensitive in detecting subtle medial temporal abnormalities. These abnormalities were present in 23 of 28 magnetic resonance images, and corresponded with mesial temporal sclerosis on pathological examination in all but 2 patients. Eighty‐one percent of the 51 patients who had adequate pathological examination of tissue had mesial temporal sclerosis. Forty‐one patients with adequate pathological examination had histories of febrile seizures and of these 38 (93%) had mesial temporal sclerosis.
A new point mutation of the prion protein gene in Creutzfeldt‐Jakob disease
Authors: Pocchiari Maurizio , Salvatore Mirella , Cutruzzolá Francesca , Genuardi Maurizio , Allocatelli Carlo Travaglini , Masullo Carlo , Macchi Giorgio , Alemá Giovanni , Galgani Simona , Xi You Geng , Petraroli Rosella , Silvestrini Maria Chiara , Brunori Maurizio 
Published: January 2005

AbstractComplete sequencing of the prion protein open reading frame of a 68‐year‐old woman affected by a familial form of Creutzfeldt‐Jakob disease (CJD) revealed a new mutation at codon 210 resulting in the substitution of isoleucine for valine. Moreover, a new 24‐bp deletion encompassing codons 54 to 61 or 62 to 69 was found in the other allele. Four of the 17 asymptomatic relatives tested carry the 210 mutation. Two of them were 81 and 82 years old. Four of 22 patients with CJD whose recorded familial history was negative for demented illnesses, but none of 103 healthy control subjects, tested positive for the 210 mutation. These data suggest that the 210 mutation is associated with CJD, but that environmental factors or incomplete penetrance may contribute to the development of the disease. This finding also suggests that in Italy, familial CJD is more common than previously reported.
A 10‐year experience with postpump chorea
Authors: Medlock Michael D. , Cruse Robert S. , Winek Sally Jo , Geiss Dale M. , Horndasch Richard L. , Schultz Debra L. , Aldag Jean C. 
Published: January 2005

AbstractPostpump chorea (PPC) is the development of choreoathetoid movements within 2 weeks following cardiopulmonary bypass. Over a 10‐year period, 668 children underwent open cardiac surgery, of whom 8 (1.2%) developed PPC. Age at surgery ranged from 8 to 34 months. The onset of chorea was 3 to 12 days following surgery. Computed tomography and magnetic resonance imaging showed atrophy but no focal lesions. Cerebral positron emission tomography using [18F]fluorodeoxyglucose in a patient following 12 months of chorea showed patchy areas of decreased glucose metabolism. None of the patients were developmentally normal 22 to 130 months following surgery. Three patients have had transient and 5 have persistent chorea. Neurological deficits ranged from a mild learning disability to progressive hypotonia and obtundation ending in death. One of 4 patients who received haloperidol had a decrease in the severity of chorea. We compared PPC patients with 39 randomly selected controls. During surgery, affected patients spent significantly more time on pump and at temperatures under 36°C, were cooled to lower temperatures than controls, and were more likely to have had a circulatory arrest. One patient developed chorea without a history of circulatory arrest. We conclude that (1) there is a strong association between PPC, deep hypothermia, and circulatory arrest, (2) absence of characteristic macroscopic changes suggests a biochemical or microembolic etiology in some cases, (3) chorea is frequently associated with developmental delay, and (4) the prognosis for complete resolution of chorea is guarded.