bluuebunny/crossref_metadata_2025_split huggingface dataset:
Increased sensitivity to ipsilateral cutaneous stimuli following transcranial magnetic stimulation of the parietal lobe
Authors: Seyal Masud , Ro Tony , Rafal Robert 
Published: January 2005

AbstractTranscranial magnetic stimulation of the sensorimotor cortex results in Decemberreased sensitivity of threshold electrical stimuli to fingers of the contralateral hand. It has been suggested that one factor contributing to neglect contralateral to a unilateral parietal lesion is a release of the normal hemisphere from reciprocal interhemispheric inhibition by the damaged hemisphere. Consistent with this account, the current study demonstrated that transcranial magnetic stimulation over the parietal cortex results in increased sensitivity to cutaneous stimulation ipsilateral to the stimulation. The likely mechanism is a transcranial magnetic stimulation–induced transient dysfunction of the ipsilateral parietal cortex that then results in disinhibition of the contralateral parietal cortex.
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin
Authors: Ljunggren Asa , Duggan David , McNally Elizabeth , Boylan Kevin B. , Gama Carlos H. , Kunkel Louis M. , Hoffman Eric P. 
Published: January 2005

AbstractIn our experience, more than half of muscular dystrophy patients show a primary dystrophinopathy. The underlying cause of muscular dystrophy in the vast majority of patients with normal dystrophin is unknown. Recently, a French family with 4 young siblings showing a muscular dystrophy of unknown progression was shown to have a primary deficiency of „adhalin,”︁ the 50‐kd dystrophin‐associated protein. Here we report the screening of the entire adhalin coding sequence in muscle biopsy specimens from 30 muscular dystrophy patients to (1) determine whether adhalin deficiency is restricted to the French population, (2) determine the incidence of adhalin deficiency in muscular dystrophy patients, and (3) characterize the clinical features and mutations in adhalin‐deficient patients. We identified a single African‐American girl with childhood‐onset muscular dystrophy and adhalin gene mutations. We found her to be a compound heterozygote for two different mutations of the same amino acid (Arg98Cys; Arg98His), one of which was previously identified in the French family. Our results suggest that primary adhalin deficiency in patients with muscular dystrophy but normal dystrophin is relatively infrequent, and that adhalin‐deficient patients are not restricted to the French population.
The subacute levodopa test for evaluating long‐duration response in parkinson's disease
Authors: Quattrone Aldo , Zappia Mario , Aguglia Umberto , Branca Damiano , Colao Rosanna , Montesanti Rita , Nicoletti Giuseppe , Palmieri Antonio , Parlato Giuseppe , Rizzo Milena 
Published: January 2005

AbstractThe clinical relevance of a long‐duration response (LDR) to levodopa therapy in Parkinson's disease (PD) has not been widely recognized. In 25 patients with moderate PD, we measured LDR on motor function after short periods of treatment with levodopa (subacute tests). Each subacute test lasted 15 days and consisted of the oral administration of levodopa at various interdose intervals (IDIs) of 48, 24, 12, 8, 6, and 5 hours. The goal for a subacute test was to achieve a satisfactory antiparkinsonian effect before the last levodopa dose (day 15), i.e., an LDR greater than 50% of the maximal response following an acute levodopa test (LDR‐endpoint). Twenty‐one patients (84%) reached the LDR‐endpoint. The IDI at which levodopa was administered clearly differentiated patients who were otherwise clinically indistinguishable when evaluated at baseline off medication or after an acute levodopa test. The IDI schedule that produced a satisfactory LDR was specific for each patient, since longer IDIs failed to produce the required LDR, and a shorter IDI schedule (resulting in larger cumulative dosage of levodopa) did not significantly enhance the response. Also, the LDR decay rate after discontinuation of treatment was individual for each patient and independent of the cumulative amount of levodopa administered. Both the IDI schedule and the LDR decay rate may reflect the ability of nigrostriatal neurons to store and to release dopamine formed from the exogenous precursor. The assessment of the LDR to levodopa by subacute tests is useful for establishing the appropriate dose of the drug, as well as for developing levodopa sparing strategies in PD patients.
Lack of an association between apolipoprotein E ϵ4 and Alzheimer's disease in elderly nigerians
Authors: Osuntokun B. O. , Sahota A. , Ogunniyi A. O. , Gureje O. , Baiyewu O. , Adeyinka A. , Oluwole S. O. , Komolafe O. , Hall K. S. , Unverzagt F. W. , Hui S. L. , Yang M. , Hendrie H. C. 
Published: January 2005

AbstractAs part of a community‐based study of Alzheimer's Disease (AD) in a Nigerian population aged 65 years and over, we have determined apolipoprotein E (APOE) genotypes on 56 subjects (39 controls and 17 subjects with dementia, including 12 with AD). The ϵ4 allele of APOE was not associated with AD or dementia in this community‐based sample. The ϵ4 allele frequency was 17.6% in demented patients and 16.7% in AD patients compared with 20.5% in the control subjects. These findings are in marked contrast to the strong association between the ϵ4 allele and AD in our previously reported study with African Americans.
Overexpression of DM20 messenger RNA in two brothers with pelizaeus‐merzbacher disease
Authors: Carango Paul , Funanage Vicky L. , Quirós Rubén E. , Debruyn Craig S. , Marks Harold G. 
Published: January 2005

AbstractPelizaeus‐Merzbacher disease is a rare, sex‐linked recessive, dysmyelinating disease of the central nervous system that has been associated with mutations in the myelin proteolipid protein (PLP) gene. Only 25% of patients studied with Pelizaeus‐Merzbacher disease have exonic mutations in this gene; the underlying cause of the disease in the remaining patients is unknown. The PLP gene encodes two major alternatively spliced transcripts called PLP and DM20. PLP messenger RNA is specifically expressed in central nervous system tissue, whereas DM20 messenger RNA is found in central nervous system, cardiac, and other tissues. We studied cultured skin fibroblasts from 2 brothers with Pelizaeus‐Merzbacher disease who exhibited no detectable exonic mutation of the PLP gene. Examination of RNA from these cells showed that the level of DM20 messenger RNA is elevated sixfold relative to male control skin fibroblasts. An unrelated female carrier, also with no detectable exonic mutation, showed a threefold increase in DM20 messenger RNA in cultured skin fibroblasts. Our findings suggest that in some patients, Pelizaeus‐Merzbacher disease is caused by overexpression of PLP gene transcripts, and that in these families a 50% increase of DM20 messenger RNA in females, relative to the increase in affected males, can identify a female carrier.
Tau in cerebrospinal fluid: A potential diagnostic marker in Alzheimer's disease
Authors: Arai Hiroyuki , Terajima Masanori , Miura Masakazu , Higuchi Susumu , Muramatsu Taro , Machida Nobuo , Seiki Hisatomo , Takase Sadao , Clark Christopher M. , Lee Virginia M.‐Y. , Trojanowski John Q. , Sasaki Hidetada 
Published: January 2005

AbstractCerebrospinal fluid from 70 patients with Alzheimer's disease (AD) and 96 patients with non‐AD neurological diseases as well as 19 normal control subjects was surveyed by sandwich enzyme‐linked immunosorbent assay to quantitate levels of the microtubule‐associated protein tau in cerebrospinal fluid. The tau level was significantly increased in AD patients as compared with that in patients with non‐AD neurological diseases and control subjects. Increased tau levels were found irrespective of age at onset, apolipoprotein E genotype, and clinical stage. Western blots of AD cerebrospinal fluid proteins revealed two to three tau‐immunoreactive bands with an apparent molecular mass between 50 and 65 kd consistent with phosphorylated cerebrospinal fluid tau. Taken together, our results suggest that cerebrospinal fluid tau might reflect the progressive accumulation of altered tau due to the progressive death of neurons in the AD brain, and that the enzyme‐linked immunosorbent assay of cerebrospinal fluid tau may prove to be a reliable and early diagnostic test for AD.
Neutrophil inhibitory factor is neuroprotective after focal Ischemia in rats
Authors: Jiang Ning , Moyle Matthew , Soule Howard R. , Rote William E. , Chopp Michael 
Published: January 2005

AbstractWe tested the neuroprotective potential of neutrophil inhibitory factor (rNIF), a novel 41‐kd recombinant glycoprotein derived from a hookworm, in a model of focal cerebral ischemia in the rat. Male Wistar rats were assigned to treatment with rNIF and vehicle. Middle cerebral artery occlusion (MCAO) for 2 hours was induced by insertion of an intraluminal suture. Infusion of the drug was initiated at the onset of reperfusion. Infarct volume was determined 48 hours after reperfusion. Neutrophils were measured within the ischemic tissue by myeloperoxidase (MPO) staining. Treatment with rNIF resulted in a 48% reduction in cerebral infarction compared with control animals (p < 0.01). Neutrophil accumulation in the ischemic brains of rNIF‐treated rats was reduced significantly (p < 0.01) compared with control animals. The number of neutrophils within the infarcted tissue correlated positively with the size of the area of infarction (p < 0.001, r = 0.6) within representative cerebral coronal sections. We demonstrated a significant neuroprotective effect of rNIF with continuous treatment for 48 hours following 2 hours of MCAO. The neuroprotective effect was correlated with a reduced number of neutrophils within the ischemic tissue. These results demonstrate potential therapeutic properties of rNIF in the management of stroke.
Intractable partial epilepsy following low‐dose scalp irradiation in infancy
Authors: Reutens D. C. , Dubeau F. , Melanson D. , Remillard G. M. , Espinosa J. A. , King M. , Berkovic S. F. , Andermann F. 
Published: January 2005

AbstractWe report the development of intractable epilepsy in 3 patients treated with irradiation to „strawberry”︁ scalp nevi in infancy. Low‐dose radiation was used (12 and 13 Gy in 2 of the patients). The clinical evolution suggested a recognizable and distinctive postradiation syndrome. There was concordance between the site of radiation as shown by localized alopecia, the clinical features of the partial seizures, and electrographic abnormalities. The clinical picture was unlike delayed cerebral radiation necrosis of adulthood, which is not thought to occur at doses below 50 Gy, in 2‐Gy fractions. Neurological deficits were not progressive and in 2 patients there was no evidence of parenchymal injury on cranial magnetic resonance imaging scanning. These differences suggest pathogenetic differences to cerebral radiation injury of adulthood, probably relating to the interaction between nervous system development, individual susceptibility, and the low doses of radiation employed.
Intravenous γ‐globulin inhibits binding of anti‐GM1 to its taget antigen
Authors: Malik Ummekalsoom , Oleksowicz Leslie , Larov Normarl , Cardo Lisa J. 
Published: January 2005

AbstractIn this study, we preincubated the sera of 3 patients with neuropathies associated with elevated titers of IgM anti‐GM1 antibodies, with increasing concentrations of intra‐venous Ig (IVIg) and assayed the inhibitory effect of this mixture on antibody binding to immobilized GM, by an enzyme‐linked immunosorbent assay. Pharmacologic concentrations of IVIg, ranging from 0.1 μg/ml to 100 mg/ml, inhibited anti‐GM, binding to its target antigen from 26 ± 3 to 71 ± 7%, respectively, in a dose‐dependent manner. A similar inhibition of binding was also observed with IVIg F(ab′)2 fragments. These findings provide a possible mechanism for the clinical efficacy of IVI g in motor neuropathies.
Sporadic inclusion body myositis: Counts of different types of abnormal fibers
Authors: Pruitt J. Ned , Showalter Carol J. , Engel Andrew G. 
Published: January 2005

AbstractInvasion of nonnecrotic muscle fibers by cytotoxic T cells, accumulation of congophilic amyloid inclusions in muscle fibers, and fiber necrosis are consistent histologic findings in sporadic inclusion body myositis (IBM). To evaluate the relative significance of these alterations, we quantitatively analyzed the frequency of these abnormalities in 31 electron microscopy proven cases of IBM (20 untreated and 11 immunosuppressed). Nonnecrotic muscle fibers invaded by T cells were severalfold more frequent than fibers displaying the other pathologic alterations. Comparison of muscle samples from treated and untreated patients revealed no significant differences in the respective frequencies of the three species of abnormal fibers. Moreover, there was no correlation of the frequency of any abnormality either with disease duration or length of treatment. The much higher Frequency of the invaded than Congo red‐positive fibers points to the importance of an immune‐mediated mechanism in the disease; but the basic cause of the disease remains undefined.
Clinical heterogeneity of adhalin deficiency
Authors: Morandi Lucia , Barresi Rita , Di Blasi Claudia , Jung Daniel , Sunada Yoshihide , Confalonieri Valeria , Dworzak Federica , Mantegazza Renato , Antozzi Carlo , Jarre Laura , Pini Antonella , Gobbi Giuseppe , Bianchi Carlo , Cornelio Ferdinando , Campbell Kevin P. , Mora Marina 
Published: January 2005

AbstractWe report adhalin deficiency in 8 patients with clinically diagnosed muscular dystrophy, dystrophic histopathological features, high plasma creatine kinase levels, normal expression of dystrophin, and marked variability of symptoms. Although the distribution of hyposthenia was similar in all 8 patients and predominantly involved muscles in the pelvic girdle, age at onset and rate of disease progression were highly variable: In 2 patients onset, at ages 24 and 25, was later than has been previously observed. We found no apparent relation between disease severity and the quantity of adhalin expressed. Two kinds of myopathy with adhalin deficiency have been reported: one caused by a mutation in the adhalin gene on chromosome 17 (primary adhalinopathy) and the other linked to chromosome 13. The product of the gene on chromosome 13 is probably associated with adhalin and its deficiency results in secondary adhalinopathy. The severity of clinical phenotypes in these adhalinopathies seems to relate more to the kind and site of the mutations than to the residual amount of the protein. We also detected a variable reduction in the laminin β1 subunit by immunohistochemistry in most patients, confirming that this is commonly associated with adhalin deficiency.
Ultrastructural evidence for altered calcium in motor nerve terminals in amyotrophc lateral sclerosis
Authors: Siklós László , Engelhardt József , Harati Yadollah , Smith R. Glenn , Joó Ferenc , Appel Stanley H. 
Published: January 2005

AbstractNumerous studies of amyotrophic lateral sclerosis have suggested that increased intracellular calcium is a common denominator in motoneuron injury. In experimental models, IgG from patients with amyotrophic lateral sclerosis enhanced calcium entry and induced apoptotic cell death in vitro as well as increased intracellular calcium and induced ultrastructural alterations of the motor nerve terminals in mice in vivo. To determine whether similar increases in intracellular calcium and altered morphology are present in motor nerve terminals of amyotrophic lateral sclerosis patients in vivo, muscle biopsy specimens from 7 patients with amyotrophic lateral sclerosis, 10 nondenervating disease control subjects, and 5 patients with denervating neuropathies were analyzed with ultrastructural techniques, employing oxalate‐pyroantimonate fixation to preserve in situ calcium distribution. Motor nerve terminals from amyotrophic lateral sclerosis specimens contained significantly increased calcium, increased mitochondrial volume, and increased numbers of synaptic vesicles compared to any of the disease control groups, without exhibiting excess Schwann envelopment specific to denervating terminals. These results parallel the effect of amyotrophic lateral sclerosis IgG passively transferred to mice, and provide the first demonstration that neuronal calcium is, in fact, increased in amyotrophic lateral sclerosis in vivo.
Ultrastructural localization of adhalin in normal murine skeletal myofiber
Authors: Wakayama Yoshihiro , Inoue Masahiko , Murahashi Makoto , Shibuya Seiji , Jimi Takahiro , Kojima Hiroko , Oniki Hiroaki 
Published: January 2005

AbstractThe ultrastructural localization of adhalin and its relations to dystrophin, β‐dystroglycan, and β‐spectrin were studied in normal murine skeletal myofibers. The C‐terminal peptides of adhalin and β‐dystroglycan were synthesized based on their cDNAs, and the affinity‐purified antibodies against these peptides were produced. Single‐immunolabeling electron microscopy showed that the adhalin was located just inside the muscle plasma membrane or inside the myofiber a short distance from the plasma membrane. The adhalin signal was also noted at the sarcoplasmic side of plasmalemmd invaginations or at vesicular structures in subsarcolemmal areas. Double‐immunogold‐labeling electron microscopy disclosed a similar localization of dystrophin, β‐dystroglycan, and β‐spectrin. The close association of adhalin with dystrophin or β‐dystroglycan was demonstrated by formation of doublets by signals of antibodies of adhalin with those of dystrophin or β‐dystroglycan and was confirmed by statistical analyses. This study demonstrated that the location of adhalin is close to that of dystrophin and β‐dystroglycan at the muscle plasma membrane.
HLA Class II genes associated with REM sleep behavior disorder
Authors: Schenck Carlos H. , Garcia‐Rill Edgar , Segall Miriam , Noreen Harriet , Mahowald Mark W. 
Published: January 2005

AbstractTwenty‐five white men with rapid eye movement (REM) sleep behavior disorder, but without narcolepsy, under‐went HLA class II antigen typing; 84% (N = 21) were DQw1 (DQB1*05,06) positive (28% [N = 7] were DR2 positive); DQB1*0501 (N = 9) and DQB1*0602 (N = 7) were the most common phenotypes. The 84% DQwl rate in men with REM sleep behavior disorder was significantly greater (p = 0.015) than the 56% DQwl rate found in a local white comparison group (N = 66), and was greater than the 39 to 66% DQw1 rates published for 12 white groups (N = 40–418/group). Thus, another disorder of REM sleep dysregulation (besides narcolepsy) appears to be strongly associated with specific HLA class I1 genes.
Magnetoencephalographic analysis of roland discharges in benign childhood epilepsy
Authors: Minami Taketsugu , Gondo Kenjiro , Yamamoto Tomoya , Yanai Shinji , Tasaki Kohsuke , Ueda Kohji 
Published: January 2005

AbstractWe report the detailed analysis of the generator and propagation of rolandic discharges in benign childhood epilepsy with centrotemporal spikes by means of 37‐channel magnetoencephalography with neuromagnetic three‐dimensional dipole localization. Equivalent current dipoles of prominent negative sharp waves of rolandic discharges appeared as tangential dipoles in the rolandic region, positive poles being situated anteriorly. These equivalent current dipoles showed a relatively limited localization and regular directions compared with other components. Equivalent current dipoles of preceding small positive waves, positive waves following negative sharp waves, and negative slow waves appeared in the vicinity of negative sharp waves. Equivalent current dipoles of rolandic discharges were located around the generator of somatosensory evoked magnetic fields stimulated at the lower lip. These findings suggest that rolandic discharges are generated through basically a mechanism similar to that for the middle‐latency components of somatosensory evoked responses.
Selegiline and lymphocyte superoxide dismutase activities in Parkinson's disease
Authors: Kushleika John , Checkoway Harvey , Woods James S. , Moon Jai‐Dong , Smith‐Weller Terri , Franklin Gary M. , Swanson Philip D. 
Published: January 2005

AbstractSuperoxide dismutases (SODs) are metalloenzymes that detoxify superoxide radicals, and occur in cytosolic (Cu,Zn‐SOD) and mitochondrial (Mn‐SOD) forms in multiple tissues, including brain. A neuroprotective effect against oxide stressor exposures may be provided by SOD, although excessive enzyme activity can produce cell injury by formation of hydroxyl radical from hydrogen peroxide. We measured Cu,Zn‐SOD and Mn‐SOD activities in peripheral lymphocytes of 43 newly diagnosed idiopathic Parkinsonapos;s disease (PD) cases and 62 age‐ and sex‐matched controls free of neurodegenerative disorders. Significant excesses of both SOD forms were found among PD cases compared with controls; however, the excesses were found exclusively among PD patients treated with the monoamine oxidase inhibitor selegiline (L‐deprenyl). Enzyme‐linked immunosorbent assays (ELI‐ SAs) confirmed that the activity excesses were due to in‐ creased protein rather than more highly reactive enzymes in lymphocytes of PD cases. Our findings clearly indicate the importance of selegiline on measured Cu,Zn‐SOD and Mn‐SOD activity in peripheral lymphocytes. Characterizing a possible therapeutic value of SOD will require longitudinal assessments of SOD in relation to PD progerssion.
Hypoplasia of the cerebellar vermis in neurogenetic syndromes
Authors: Schaefer G. Bradley , Thompson James N. , Bodensteiner John B. , McConnell James M. , Kimberling William J. , Gay Charles T. , Dutton William D. , Hutchings David C. , Gray Stanton B. 
Published: January 2005

AbstractThere are conflicting reports on the relationship between cerebellar vermal lobule hypoplasia and autism. Using quantitative magnetic resonance image analysis, we measured the cerebellar vermis in 125 normal individuals with a broad age range and 102 patients with a variety of neurogenetic abnormalities. We conclude that hypoplasia of cerebellar vermal lobules VI and VII is a nonspecific finding that even occurs in several conditions without autistic behavior. This suggests that it is not a specific neuroanatomical marker for autism, nor is cerebellar dys‐ genesis likely to be solely responsible for clinical autistic behaviors.
Hypersomnia following paramedian thalamic stroke: A report of 12 patients
Authors: Bassetti Claudio , Marhis Johannes , Gugger Matthias , Lovblad Karl O. , Hess Christian W. 
Published: January 2005

AbstractParamedian thalamic stroke (PTS) is a cause of organic hypersomnia, which in the absence of systematic sleep‐wake studies has been attributed to disruption of ascending activating impulses and considered a “earoused” state. However, an increasing amount of data suggests a role of the thalamus in sleep regulation and raises the possibility that a sleep disturbance contributes to hypersomnia in PTS. We evaluated 12 patients with magnetic resonance imaging‐proven isolated PTS and hypersomnia with 10 to >20 hours of sleep behavior per day. Nocturnal polysomnographic findings paralleled the severity of hypersomnia. All subjects had increased stage 1 NREM sleep, reduced stage 2 NREM sleep, and reduced numbers of sleep spindles. In patients with severe hypersomnia, slow‐wave (stages 3‐4) NREM sleep was often reduced, but there were no major REM sleep alterations. Daytime sleep behavior was associated mostly with stage 1 sleep by electroencephalogram; there was no correlation between hypersomnia and results of nap tests. We conclude that hypersomnia following PTS is accompanied by deficient arousal during the day and insufficient spindling and slow‐wave sleep production at night. These observations support the hypothesis of a dual role of the paramedian thalamus as “final common pathway” for both maintenance of wakefulness and promotion of NREM sleep.