bluuebunny/crossref_metadata_2025_split huggingface dataset:
Presence of the terminal complement complex (C5b‐9) precedes myelin degradation in immune‐mediated demyelination of the rat peripheral nervous system
Authors: Stoll Guido , Schmidt Beate , Jander Sebastian , Toyka Klaus V. , Hartung Hans‐Peter 
Published: January 2005

AbstractIn this study, the terminal complement complex c5b‐9 (TCC) was localized by immunocytochemistry at different clinical stages of experimental autoimmune neuritis. Deposits of TCC were found on the surface of Schwann cells and their myelin sheaths, and to some extent in the extracellular space at predilective sites of impending demyelination before onset of clinical signs and for a short period thereafter. Additionally, TCC was deposited on the surface of W3/13 positive leukocytes. No TCC immunoreactivity was seen in the distal stump of transected sciatic nerves 1 to 15 days after axotomy. The early and transient deposition of TCC on Schwann cells and myelin sheaths in experimental autoimmune neuritis before overt demyelination suggests that complement activation plays a pathogenic role in the initiation of immune‐mediated myelin damage. The lack of TCC immunoreactivity after nerve transection excludes a nonspecific activation process. The signals involved in local TCC formation in demyelinating peripheral nervous system disorders have yet to be explored.
Presence of HTLV‐I proviral DNA in central nervous system of patients with HTLV‐I–associated myelopathy
Authors: Kira Jun‐ichi , Itoyama Yasuto , Koyanagi Yoshio , Tateishi Jun , Kishikawa Masao , Akizuki Shin‐Ichiro , Kobayashi Itsuro , Toki Naoyuki , Sueishi Katsuo , Sato Hiroyuki , Sakaki Yoshiyuki , Yamamoto Naoki , Goto Ikuo 
Published: January 2005

AbstractThe polymerase chain reaction (PCR) method was used to determine the presence and amount of human T lymphotropic virus type I (HTLV‐I) proviral DNA in central nervous system (CNS) tissue obtained at autopsy from 6 patients with HTLV‐I–associated myelopathy (HAM)/tropical spastic paraparesis (TSP), 1 patient with adult T‐cell leukemia (ATL) and CNS infiltration of leukemic cells, and 9 control subjects with other neurological disorders. HTLV‐I pX and env but not pol DNA were detected in CNS tissue from 5 of 6 patients with HAM/TSP. The ATL samples were positive for pX, env, and pol DNA by PCR. None of the control samples was consistently positive for HTLV‐I by PCR, but all showed positive bands on β‐globin PCR. Quantitative PCR combined with histological studies showed no correlation between HTLV‐I proviral DNA amounts and extent of perivascular mononuclear cell infiltration in the HAM/TSP CNS. Also, the amounts of pX and probably env DNA were greater in the HAM/TSP samples than in the ATL sample, although the extent of mononuclear cell infiltration was far less in the HAM/TSP samples than in the ATL sample. Therefore, in addition to infiltrating mononuclear cells, constituent cells of the CNS may harbor the HTLV‐I genome, at least in the pX and env regions, in patients with HAM/TSP.
A follow‐up study of isolated cases of suspected Huntington's disease
Authors: Bateman D. , Boughey A. M. , Scaravilli F. , Marsden C. D. , Harding A. E. 
Published: January 2005

AbstractWe reviewed 49 patients in whom a diagnosis of Huntington's disease (HD) seemed possible on clinical grounds, but who gave no history of definitely affected relatives. In 32 with the typical clinical features of HD (progressive chorea and dementia, postural instability, abnormal initiation of saccadic eye movements), the diagnosis was confirmed in 7 patients who had had autopsies, affected relatives were found in 5 others, and HD remained probable in a further 13 who were reexamined. In the 17 with a less typical clinical picture, a diagnosis of HD appeared most likely in 2; other causes for chorea such as cerebrovascular disease, neuroacanthocytosis, recrudescence of Sydenham's chorea, and drug‐induced tardive dyskinesia could be invoked in the remainder. We conclude that the likelihood of HD in a patient with the typical clinical features of this disorder but no history of affected relatives is at least 75%, which for practical purposes implies a risk to their children hardly less than in familial HD. The most plausible explanations for seemingly sporadic patients with HD are nonpaternity and mild, late‐onset disease that is overlooked by other family members.
Revised estimate of the prevalence of multiple sclerosis in the united states
Authors: Anderson D. W. , Ellenberg J. H. , Leventhal C. M. , Reingold S. C. , Rodriguez M. , Silberberg D. H. 
Published: January 2005

AbstractUsing three adjustments, we have revised a 1976 prevalence count for multiple sclerosis in the United States. The adjustments were made to data from a US national survey; they used 1990 population projections from the US Bureau of the Census, and results of investigations conducted in Weld and Larimer Counties, Colorado, and Olmsted County, Minnesota. It is estimated that approximately 250,000 to 350,000 persons in the United States in 1990 had physician‐diagnosed multiple sclerosis.
Familial amyloidotic polyneuropathy: Report of patients heterozygous for the transthyretin Gly42 gene
Authors: Murakami Tatsufumi , Yi Shigehiro , Yamamoto Kenji , Maruyama Shoichi , Araki Shukuro 
Published: January 2005

AbstractWe studied 2 patients from a Japanese family with familial amyloidotic polyneuropathy (FAP). Their clinical features are similar to type 1 FAP, and the proband's rectal tissue contained amyloid that stained with antihuman transthyretin (TTR) antiserum. Direct DNA sequencing of the proband's TTR gene revealed a guanine‐for‐adenine substitution in the second base of codon 42, producing a glycine for glutamate substitution in the plasma protein.
An abnormality of plasma amyloid protein precursor in Alzheimer's disease
Authors: Bush Ashley I. , Whyte Scott , Thomas Linda D. , Williamson Timothy G. , Van Tiggelen Cees J. , Currie Jon , Small David H. , Moir Robert D. , Li Qiao‐Xin , Rumble Baden , Mönning Ursula , Beyreuther Konrad , Masters Colin L. 
Published: January 2005

AbstractβA4 amyloid deposition in the brain, which is characteristic of Alzheimer's disease(AD), may result from either overexpression of the amyloid protein precursor (APP) or failure of APP to be correctly processed. A blood marker reflecting this abnormal metabolism would be of diagnostic value and would provide a means of monitoring the efficacy of therapeutic interventions. We analyzed immunoblots of plasma APP enriched by heparin‐Sepharose chromatography from patients with moderate to severe AD dementia (n = 34) and control subjects (n = 77) and found an approximately 50% increase in the proportion of 130‐kd APP species in patients with AD (p < 0.001), no difference in the 110‐kd form, a 15 to 30% decrease in the 65‐kd form (p < 0.001), and a 20 to 35% decrease in the proportion of 42‐kd APP (p < 0.001). These species of APP were soluble, lacked the carboxyl terminus, and the 110‐and 42‐kd species were shown to be consistent with degradation products derived from the 130‐kd species. A comparison of levels of 130‐kd plasma APP from moderately to severely demented patients with AD and control subjects distinguished the two groups with a specificity of 87.0% and a sensitivity of 79.4%.
The first decade of molecular genetics in neurology: Changing clinical thought and practice
Authors: Rowland Lewis P. 
Published: January 2005

AbstractMolecular genetics has had a powerful impact on clinical neurology. Definitions of disease are changing from clinical criteria to DNA analysis, resolving questions about the nature of clinically similar but not identical diseases. Genetic counseling is more reliable. Concepts of mendelian inheritance are being tested and new forms of mutation have been discovered to explain anticipation. Nonmendelian forms of inheritance have emerged; concepts of pathogenesis are on a more secure footing; and novel treatments are being explored.
Recurrent transverse myelitis, myasthenia gravis, and autoantibodies
Authors: Lindsey J. W. , Albers G. W. , Steinman L. 
Published: January 2005

AbstractA 45‐year‐old man with a longstanding diagnosis of myasthenia gravis presented with four episodes of transverse myelitis in 5 years. Each episode improved after treatment with steroids. Laboratory studies revealed no evidence of multiple sclerosis or a structural spinal lesion. He had antinuclear and anti‐DNA antibodies and the HLA‐A1, B8, DR3 haplotype known to be associated with certain autoimmune diseases. We propose an autoimmune cause for the recurrent episodes of myelitis.
Extraocular muscles are spared in advanced duchenne dystrophy
Authors: Kaminski Henry J. , Al‐Hakim Mazen , Leigh R. John , Bashar M. Katirji , Ruff Robert L. 
Published: January 2005

AbstractFast‐twitch extremity muscle fibers are preferentially affected in Duchenne's and Becker' muscular dystrophy. Since saccades are thought to be mediated by fast‐twitch fibers, saccadic velocities would be expected to be decreased in these patients. Using infrared oculography, we found that the peak velocities of saccades in 3 patients with advanced Duchenne's or Becker's muscular dystrophy were normal. Clinical findings in 7 other patients with these forms of dystrophy were normal. This investigation is the first study of ocular motility in Duchenne's and Becker's muscular dystrophy. It demonstrates that extraocular muscle function is preserved and suggests that fast‐twitch fibers in extraocular muscles possess properties that protect against degeneration.
Low plasma apolipoprotein AII levels in human and mouse amyloidosis with mutant transthyretin (Met‐30) gene
Authors: Ando Yukio , Tanaka Yoshiya , Ueyama Hidetsugu , Sakashita Naomi , Yonehara Toshiro , Higuchi Keiichi , Araki Shukuro 
Published: January 2005

AbstractWe measured the serum apolipoprotein levels in patients with familial amyloidotic polyneuropathy (FAP). The serum apolipoprotein AII levels were much lower than those of the control subjects, while the levels in asymptomatic carriers of the FAP gene were normal. Other plasma apolipoprotein levels, such as apolipoproteins AI, B, CII, CIII, and E, were all within normal ranges. The decrease of apolipoprotein AII in the plasma of FAP patients correlated with the progression of the disease. In a transgenic mice model of FAP carrying human variant transthyretin gene (Met‐30), serum apolipoprotein AII levels were decreased in 1.5‐year‐old mice compared with control mice, while the 3‐month‐old mice had normal levels. These results suggest that apolipoprotein AII may play an important role in lipid metabolism or amyloid formation in patients with FAP.
Cloning and characterization of a lambert‐eaton myasthenic syndrome antigen
Authors: Rosenfeld Myrna R. , Wong Ellen , Dalmau Josep , Manley Geoff , Ponser Jerome B. , Sher Emanuele , Furneaux Henry M. 
Published: January 2005

AbstractLambert‐Eaton myasthenic syndrome is a paraneoplastic neuromuscular disorder in which an immune response directed against a small‐cell lung tumor crossreacts with antigens in the neuromuscular junction. To isolate and characterize the antigens, We screened a human fetal brain expression library with a high‐titer serum from a patient with Lambert‐Eaton myasthenic syndrome. This screening resulted in the isolation of a complementary DNA clone encoding an antigen we call myasthenic syndrome antigen B (MysB). Approximately 43% (3 of 7) of Lambert‐Eaton myasthenic syndrome sera specifically recognized MysB fusion protein, whereas none of 34 control sera did. The predicted amino acid sequence of this clone shows a high degree of homology to the b̃ subunit of calcium channel complexes. The MysB pre‐messenger RNA is alternatively spliced to yeild 3 forms of the protein differing in the domain between two highly conserved α‐helical segments.
Conjugal Alzheimer's disease: Is there an increased risk in offspring?
Authors: Bird T. D. , Nemens E. J. , Kukull W. A. 
Published: January 2005

AbstractThirty‐one couples in which both spouses had the clinical diagnosis of Alzheimer's disease (AD) (confirmed by autopsy in 12) were ascertained. The mean age of onset of dementia was 75.1 ± 7.4 years. These couples had 87 children, 63 still living. Seventeen (19.5%) of the children developed dementia, with a mean age of onset of 68.9 ± 8.3 years. Thirty of the children of the conjugal AD couples survived to age 65 or longer and 14 (47%) of them developed dementia. This prevalance of dementia in the children of affected couples is much greater than that in the children of two control groups consisting of 234 couples in which one spouse had AD and 192 couples in which neither spouse was demented. Twenty‐one of the conjugal AD couples had a family history of AD but the prevalence of dementia in their children was not greater than that in the children of conjugal AD couples without a family history of AD. These results represent additional evidence of an important genetic component in late‐onset AD and provide empirical risk data for the children of conjugal AD couples.
Anterior temporal language areas in patients with early onset of temporal lobe epilepsy
Authors: Devinsky Orrin , Perrine Kenneth , Llinas Rafael , Luciano Daniel J. , Dogali Michael 
Published: January 2005

AbstractEighteen consecutive patients undergoing dominant temporal lobectomy underwent preoperative cortical stimulation for language localization. Patients with naming deficits on anterior (4.5 cm from the temporal pole) temporal lobe stimulation had earlier seizure onset vs those without such deficits (5.8 yr vs 12.9 yr; p < 0.04). There was a similar trend for reading errors (6.3 yr vs 12.4 yr; p < 0.052). Resections always spared at least 1 cm anterior to any langauge area. There was no significant difference in postoperative neuropsychological tests between patients with and without anterior language representation. Early onset of dominant temporal lobe seizure foci leads to a more widespread or atypical distribution of language areas. Individual variability should be considered in epilepsy surgery to reduce postoperative language deficits.
Characteristics of medial temporal lobe epilepsy: I. Results of history and physical examination
Authors: French J. A. , Williamson P. D. , Thadani V. M. , Darcey T. M. , Mattson R. H. , Spencer S. S. , Spencer D. D. 
Published: January 2005

AbstractIn order to more precisely define a syndrome of medial temporal lobe epilepsy, histories and physical findings were evaluated in 67 patients studied with intracranial electrodes who had medial temporal seizure onset and became seizure free following temporal lobectomy. Patients with circumscribed, potentially epileptogenic mass lesions were excluded. Fifty‐four patients (81%) had histories of convulsions during early childhood or infancy, 52 of which were associated with fever. Complicated febrile seizures occurred in 33 (94%) of the 35 patients in whom detailed descriptions of the febrile seizures were available. Bacterial (5) or viral (2) central nervous system infections were present in 7 patients with seizures and fevers. Other less common, but probably significant, risk factors included head trauma (10%) and birth trauma (3%). Only 5 patients had no apparent risk factors. The mean age at habitual seizure onset was 9 years. All patients had complex partial seizures, with half having only complex partial seizures. The other half also had secondarily generalized tonic‐clonic seizures, but these were never the predominant seizure type. Only 3 patients had histories of convulsive status epilepticus and no patient had a history of nonconvulsive status epilepticus. All but 3 patients reported auras before some or all of their seizures, with an abdominal visceral sensation being by far the most common type of aura (61%). Of the 60 patients with identified risk factors, all but 2 had an interval between the presumed cerebral insult and the development of habitual seizures, with a mean seizure‐free interval of 7.5 years. Fifteen patients developed a seizure‐free interval following onset of habitual seizures, with a mean duration of 5.9 years. In 22 patients, the seizures had an evolutionary pattern, with seizures becoming progressively more elaborate over time. We conclude (1) there is a very strong relationship between complicated febrile seizures during early childhood or infancy and the later development of medial temporal lobe epilepsy; (2) habitual seizures in most patients from this population begin during, or shortly after, the first decade of life; (3) complex partial seizures are seen in all such patients; (4) generalized tonic‐clonic seizures are not a predominant seizure type in these patients, and convulsive status epilepticus in uncommon; (5) nonconvulsive status epilepticus rarely, if ever, occurs in these patients; (6) auras, particularly abdominal visceral sensations, are very common; and (7) medial temporal lobe epilepsy can be a progressive disease as evidenced by silent intervals and progressive elaboration of seizures.
Parvalbumin‐immunoreactive cortical neurons in Creutzfeldt‐Jakob disease
Authors: Ferrer Isidro , Casas Romi , Rivera Rosa 
Published: January 2005

AbstractMassive abnormalities of parvalbumin‐immunoreactive cortical neurons were observed in the cerebral biopsy samples of 3 patients with Creutzfeldt‐Jakob disease. Immunoreactive cells had reduced and short, often fragmented, dendrites, and large numbers of dendritic varicosities were observed. Since parvalbumin‐immunoreactive neurons are the most important inhibitory cells in the cerebral cortex, the damage to these neurons may account, in part, for the impaired cortical function, and may play a role in the appearance of myoclonus and electroencephalographic patterns in patients with Creutzfeldt‐Jakob disease.
Mitochondrial myopathy with progressive decrease in mitochondrial tRNALeu(UUR) mutant genomes
Authors: Kawakami Yasuhiko , Sakuta Ryoichi , Hashimoto Kiyoshi , Fujino Osamu , Fujita Takehisa , Hida Masatoshi , Horai Satoshi , Goto Yu‐ichi , Nonaka Ikuya 
Published: January 2005

AbstractA female patient with mitochondrial myopathy had a mitochondrial DNA mutation at nucleotide pair 3243, commonly seen in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS), but unlike MELAS patients, she had no central nervous system symptoms. Muscle weakness, which was most severe when she was 7 years old, improved gradually with age. Comparison of two muscle biopsies obtained at an interval of 12.5 years (7 and 20 years of age, respectively), revealed that the number of ragged‐red fibers was markedly decreased and histochemical cytochrome c oxidase activity increased in parallel with the decrease in population of mutant genomes.
Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot‐Marie‐Tooth disease type 1A
Authors: Yoshikawa Hiroo , Nishimura Tomoya , Nakatsuji Yuji , Fujimura Harutoshi , Himoro Masato , Hayasaka Kiyoshi , Sakoda Saburo , Yanagihara Takehiko 
Published: January 2005

AbstractThe human peripheral myelin protein 22 (PMP‐22) gene has been mapped to chromosome 17p11.2 in the duplicated region associated with Charcot‐Marie‐Tooth disease type 1A. Southern blot analysis using PMP‐22 as a probe indicated that the PMP‐22 gene was duplicated in 5 patients from unrelated Japanese families with Charcot‐Marie‐Tooth disease type 1. In order to investigate whether or not an extra copy of PMP‐22 has an effect on its gene expression, we analyzed relative expression of messenger RNA for PMP‐22 and protein 0 (P0) against beta‐actin by Northern blotting in biopsied nerves of the patients with type 1A disease, and compared the results with those of patients having other demyelinating neuropathies and the autopsied nerves of patients without neuropathies. The relative expression of PMP‐22 messenger RNA in 5 patients with Charcot‐Marie‐Tooth disease type 1A was significantly higher than that in 5 patients with other demyelinating neuropathies (p < 0.05). There was no statistically significant difference in P0 expression between them. This study provided direct evidence for elevated expression of PMP‐22 in peripheral nerves of patients with Charcot‐Marie‐Tooth disease type 1A as the result of a gene dosage effect. However, the relation between elevated expression of PMP‐22 and the mechanism causing demyelination remains undetermined.
N‐acetylgalactosaminyl GD1a is a target molecule for serum antibody in Guillain‐Barré syndrome
Authors: Kusunoki Susumu , Chiba Atsuro , Kon Kazuo , Ando Susumu , Arisawa Kazuko , Tate Asako , Kanazawa Ichiro 
Published: January 2005

AbstractSerum antibodies against such major glycolipids as GM1, GD1b, and LM1 have been reported in patients in the acute phase of Guillain‐Barré syndrome (GBS). Because minor unidentified glycolipids also may be targets of antibodies in GBS sera, we assayed serum antibody against a crude ganglioside fraction using thin‐layer chromatogram immunostaining. Antibody activity was detected against a band that migrated just below GD1a in 6 of the 50 patients with GBS tested. Antibody titer, as determined by enzyme‐linked immunosorbent assay, decreased during the course of the disease. All 6 patients had suffered gastrointestinal infection before the neurological onset of GBS and showed low amplitudes for the compound muscle action potentials and normal or only slightly decreased nerve conduction velocities. Thin‐layer chromatogram immunostaining did not show this antibody activity in any of the 16 normal and 119 disease controls. The unidentified glycolipid was isolated by DEAE–Sephadex A‐25 column chromatography, sialidase treatment, and Iatrobeads column chromatography. Fast atom bombardment‐mass spectra showed it to be N‐acetyl‐galactosaminyl GD1a.
Phenotype of chromosome 14–linked familial Alzheimer's disease in a large kindred
Authors: Lampe Thomas H. , Bird Thomas D. , Nochlin David , Nemens Ellen , Risse Steven C. , Sumi S. Mark , Koerker Richard , Leaird Brie , Wier Monna , Raskind Murray A. 
Published: January 2005

AbstractWe report the clinical and neuropathological features of chromosome 14–linked familial Alzheimer's disease (14qF AD) in affected members of the L family. Some clinical information on all 16 known affected individuals and detailed neuropathological findings in 6 family members were available for review. Common features of the phenotype of 14qFAD in the L family included onset of dementia before the age of 50, early progressive aphasia, early‐appearing myoclonus and generalized seizures, paratonia, cortical atrophy, numerous and extensive senile plaques and neurofibrillary tangles, and prominent amyloid angiopathy. Descriptions of phenotypic features were available for six additional recently defined 14q‐linked FAD kindreds: the findings in four of them (FAD4, FAD2, A, B) indicated a relatively consistently shared 14qFAD phenotype, conforming closely with the specific clinical and neuropathological characteristics noted in the L family. Comparisons also suggested several ostensible phenotypic variants in 14qFAD: (1) In two 14q‐linked kindreds (SNW/FAD3, FAD1), affected individuals in some instances were noted to survive to age 70 or beyond and the mean age at onset (> 49 years) in these two kindreds was somewhat higher than in their five 14qFAD counterparts (< 48 years in each) (2) in the SNW/FAD3 kindred, seizures and myoclonus were absent in all 10 subjects examined; and (3) cerebellar amyloid plaques were variably present within and among several 14qFAD kindreds. Comparisons with phenotypic features recently detailed in three kindreds (TOR3, F19, ROM) with codon 717 amyloid precursor protein gene mutations (i.e., APP717 FAD) suggested several distinctions: Prominent progressive aphasia, myoclonus, seizures, and paratonia were all apparently less prevalent in APP717 FAD, with language function predominantly spared over the initial disease course. The extent of homogeneity and heterogeneity in the clinical and neuropathological phenotype of 14q‐linked FAD and its possible meaningful distinctions from the phenotypes of APP717 FAD await further determination.