bluuebunny/crossref_metadata_2025_split huggingface dataset:
Confirmation of linkage of oculopharyngel muscular dystrophy to chromosome 14q 11.2‐q13
Authors: Stajich Jeffrey M. , Lennon Felicia , Lee Arnold , Yamaoka Larry , Helms Barbara , Gaskell Perry C. , Roses Allen D. , Vance Jeffrey M. , Pericak‐Vance Margaret A. , Gilchrist James M. , Donald Lauren 
Published: January 2005

AbstractOculopharyngeal muscular dystrophy is a late‐onset, autosomally dominant disorder characterized by progressive ptosis, dysphagia, and extremity weakness. Linkage of oculopharyngeal muscular dystrophy to 14q11.2‐q13 has been reported in a series of French Canadian families. Haplotype analysis in these data shows a single segregating disease chromosome, suggesting a founder effect in this population. We ascertained and sampled for linkage studies 5 multigenerational American families with oculopharyngeal muscular dystrophy. Four of the 5 families have known French Canadian ancestry while the fifth is of English/Scottish origin. A peak multipoint lod score of 6.30 was obtained for the marker MYH7.1 in the families, confirming linkage to 14q11.2‐q13. The English/Scottish family exhibited a different chromosomal haplotype for the oculopharyngeal muscular dystrophy alleles than did the families of French Canadian origin. These data suggest that this family may represent a second, possibly independent mutation in this disorder.
Low brain GABA level is associated with poor seizure control
Authors: Petroff Ognen A. C. , Rothman Douglas L. , Behar Kevin L. , Mattson Richard H. 
Published: January 2005

AbstractLow gamma‐aminobutyric acid (GABA) concentrations in the cerebrospinal fluid are seen in a variety of epileptic syndromes. Low GABA levels outside of the epileptic focus may facilitate spread of discharges beyond the focus. In vivo measurements of GABA were made by 1H spectroscopy using a 2.1‐T magnetic resonance imager‐spectrometer and an 8‐cm surface coil to measure a 14‐cm3 volume in the occipital lobe. Patients with complex partial seizures had lower GABA levels (1.03 mmol/kg of brain; 95% confidence interval [CI], 0.95−1.12; n = 28; p < 0.02) than did subjects without epilepsy (1.18; 95% CI, 1.13−1.24; n = 19). There was a significant association between low GABA levels and recent seizures (correlation coefficient of 0.548, p < 0.01, df of 32). Conversely, patients with well‐controlled seizures had higher brain GABA levels than did patients with recent seizures. Patients with seizures within a day of the measurement had lower GABA levels (0.92 mmol/kg; 95% CI, 0.78−1.06; n = 7) than did patients who were seizure free for 5 years or longer (1.28; 95% CI, 1.09−1.47; n = 4). Poor seizure control is associated with low brain GABA levels.
Horizontal canal benign paroxysmal positioning vertigo (h‐BPPV): Transition of canalolithiasis to cupulolithiasis
Authors: Sven Steddin H. , Brandt Thomas 
Published: January 2005

AbstractWe report on 2 patients with typical features of horizontal canal benign paroxysmal positioning vertigo (h‐BPPV). A vigorous head positioning in these patients from supine to a bending‐over, head‐on‐the‐knees position reversed the direction of nystagmus from geotropic initially to ageotropic when rolling the head from side to side while supine. We explain this by a conversion of canalolithiasis into cupulolithiasis and conclude that (1) canalolithiasis and cupulolithiasis may sequentially occur in the same semicircular canal with subsequent positioning maneuvers and (2) positional nystagmus beating toward the uppermost ear is not a pathognomonic sign of central vestibular disturbance but can indicate occasional cupulolithiasis.
Bilateral brachial plexus neuritis following parvovirus B19 and cytomegalovirus infection
Authors: Maas J. J. , Beersma M. F. C. , Haan J. , Jonkers G. J. P. M. , Kroes A. C. M. 
Published: January 2005

AbstractA man, 23 years of age, had a typical erythema infectiosum, complicated by a severe bilateral brachial plexus neuritis. Motor function recovered slowly and only partially after 6 months. An infection by human parvovirus B19 was demonstrated, with strongly positive and gradually declining IgM antibodies and viral DNA detectable in serum for more than 3 months. There was also clear evidence of a recent infection by cytomegalovirus. The interaction between these two viruses could be responsible for this rare and severe complication of common infections in this patient.
Bilateral parasagittal parietooccipital polymicrogyria and epilepsy
Authors: Guerrini R. , Dubeau F. , Dulac O. , Barkovich A. J. , Kuzniecky R. , Fett C. , Jones‐Gotman M. , Canapicchi R. , Cross H. , Fish D. , Bonanni P. , Jambaqué I. , Andermann F. 
Published: January 2005

AbstractWe describe 9 patients with a bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex, with magnetic resonance imaging findings suggestive of polymicrogyria. No familial distribution or etiologic factors were identified. Location in a watershed area between anterior and posterior cerebral arteries suggests postmigratory perfusion failure as the underlying cause. In most patients the malformation was detected by magnetic resonance imaging after computed tomography scans with 10‐mm‐thick sections were considered normal. Seizures, present in all, had started between the ages of 20 months and 15 years (mean, 9 years) and were only intractable in 7. Complex partial seizures with or without minor automatisms were the most frequent ictal pattern. In only 4 patients these were preceded by symptoms indicating posterior onset. Interictal electroencephalograms showed both diffuse and bilateral parietooccipital or temporal abnormalities. The range of IQ scores indicated average intelligence to mild retardation. Several patients presented deficits on neuropsychological tasks requiring performance under time constraints, suggesting that the malformation may result in cognitive slowing. Early diagnosis of this malformation may be difficult because of the lack of neurological signs, relatively late seizure onset, difficulty in localizing seizure onset, and inability to recognize the cortical abnormality on computed tomography scans.
Patients homozygous for the 17p 11.2 duplication in charcot‐marie‐tooth type 1A Disease
Authors: LeGuern E. , Gouider R. , Mabin D. , Tardieu Bs S. , Birouk N. , Parent P. , Bouche P. , Brice A. 
Published: January 2005

AbstractCharcot‐Marie‐Tooth type 1A disease is an inherited sensorimotor neuropathy that is most often associated with a duplication of chromosome 17p11.2. This region contains the gene of the peripheral myelin protein 22 (PMP22), which is responsible by a gene dosage effect for the Charcot‐Marie‐Tooth type 1A phenotype with 17p11.2 duplication. We performed a clinical, electrophysiological, and genetic study of a consanguinous Charcot‐marie‐Tooth type 1A family with 4 affected siblings, 3 of whom were homozygous for the 17p11.2 duplication, the other a heterozygote. Comparison of phenotypes showed that the severity of the disease was more severely affected than the heterozygous sibling who was pausiymptomatic. These results suggest that the severity of the disease is not determined solely by the number of copies of the PMP22 gene.
Adult‐onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene
Authors: Bernardini Gary L. , Herrera Daniel G. , Rn Debbie Carson , DeGasoperi Rita , Sosa Miguel A. Gama , Kolodny Edwin H. , Trifiletti Rosario 
Published: January 2005

AbstractKrabbe's disease or globoid cell leukodystrophy is a rare demyelinating disorder of the central and peripheral nervous systems, the diagnosis of which is based on clinical findings and the determination of low to absent functional activiry of athe enzyme β‐galactocerebrosidase. We report the presentation of late‐onset Krabbe's disease in 2 siblings, a 17‐year‐old boy and his 16‐year‐old sistem both with marked deficiency of the enzyme β‐galactocere‐brosidase. Only the older sibling manifested clinical signs and symptoms of the disease, while the younger sister remained asymptomatic to date. Molecular analyses disclosed the presence in this family of two novel single point mutations within the gene for galactocerebrosidase.
Motion direction discrimination in blind hemifields
Authors: Barton Jason J. S. , Sharpe James A. 
Published: January 2005

AbstractWe tested motion direction discrimination with random dot cinematograms (RDCs) projected into the contralateral homonymous visual field defects of 10 patients with unilateral cerebral hemispheric lesions. Five patients had medial occipital lesions that spared the putative motion area in lateral occipitotemporal cortex and the optic radiations and other white matter tracts proximal to this site. The other 5 had lesions involving this area or the proximal optic radiations. Eye position was monitored to ensure fixation. No patient in either group discriminated motion direction in signal/noise RDCs at a level better than chance, and the performance of those with lesions restrited to medial occipital lobe did not differ from those with lateral occipital or optic radiation lesions. A subgroup of patients with medial occipital lesions also performed a „frequency of discrimination”︁ experiment, using 100% coherent dot motion with stimulus velocities ranging as high as 79.4°/sec. Their results on these tests were also no better than chance. Sparing of the putative motion area in lateral occipitotemporal cortex and its input fibers is not a sufficient condition for residual direction discrimination (blindsight) with RDCs in homonymous visual field defects.
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles
Authors: Engle Elizabeth C. , Goumnerov Boyan C. , McKeown Craig A. , Schatz Martha , Johns Donald R. , Porter John D. , Beggs Alan H. 
Published: January 2005

AbstractCongenital fibrosis of the extraocular muscles is an autosomal dominant congenital disorder characterized by bilateral ptosis, restrictive external ophthalmoplegia with the eyes partially or completely fixed in an infraducted (downward) and strabismic position, and markedly limited and aberrant residual eye movements. It has been generally thought that these clinical abnormalities result from myopathic fibrosis of the extraocular muscles. We describe the intracranial and orbital pathology of 1 and the muscle pathology of 2 other affected members of a family with chromosome 12‐linked congenital fibrosis of the extraocular muscles. There is an absence of the superior division of the oculomotor nerve and its corresponding alpha motor neurons, and abnormalities of the levator palpebrae superioris and rectus superior (the muscles innervated by the superior division of the oculomotor nerve). In addition, increased numbers of internal nuclei and central mitochondrial clumping are found in other extraocular muscles, suggesting that the muscle pathology extends beyond the muscles innervated by the superior division of cranial nerve III. This report presents evidence that congenital fibrosis of the extraocular muscles results from an abnormality in the development of the extraocular muscle lower motor neuron system.
Differential effects of levodopa on dopaminergic function in early and advanced Parkinson's disease
Authors: Torstenson Richard , Hartvig Per , Långström Bengt , Westerberg Göran , Tedroff Joakim 
Published: January 2005

AbstractThe effect of levodopa on L‐[11C]DOPA influx rate was evaluated in patients with early and advanced Parkinson's disease (PD) by using positron emission tomography (PET). The patients were scanned both drug‐free and after a subsequent therapeutic levodopa infusion. Regional analysis of striatal L‐[11C]DOPA influx rate showed a correlation to the degenerative loss of nerve terminals reported at postmortem analysis in PD. Levodopa induced markedly differential effects on the striatal L‐[11C]DOPA influx rate in early and advanced patients. In patients with mild PD, levodopa infusion decreased L‐[11C]DOPA influx, whereas in patients with advanced PD, levodopa induced significant upregulation of L‐[11C]DOPA influx. These changes were confined to the putamen and were, in both patient categories, most prominent in the dorsal part of the region. The present investigation demonstrates a marked shift in the modulatory action of levodopa with the advancement of PD and suggests the induction of positive feedback in advanced PD. These findings could help explain the less graded clinical response to levodopa in advanced PD and would thus have importance for the understanding of the pathogenesis underlying motor fluctuations.
Increased apolipoprotein E ϵ4 in epilepsy with senile plaques
Authors: Gouras Gunnar K. , Relkin Norman R. , Sweeney David , Munoz David G. , Mackenzie Ian R. , Gandy Sam 
Published: January 2005

AbstractInheritance of the apolipoprotein E (ApoE) ϵ4 allele is a risk factor for Alzheimer's disease (AD) and is associated with increased deposition of β‐amyloid (Aβ) in AD, Down's syndrome, and normal aging. Aβ deposition in the form of senile plaques (SPs) has recently been described in patients with temporal lobe epilepsy (TLE). We studied the relationship between ApoE ϵ4 genotype and the deposition of Aβ in temporal lobe tissue from patients who underwent temporal lobectomy for intractable epilepsy. TLE patients with SPs had a 70% ApoE ϵ4 carrier frequency compared with a 27% carrier frequency among age‐matched TLE controls without SPs. Our data suggest that the association between ApoE ϵ4 and intracerebral Aβ accumulation is not unique to the elderly or to those with dementia, and may be a feature of conditions in which there is both an ApoE ϵ4 allele and over‐production of Aβ precursor protein, and, presumably, Aβ.
Clinical and pathological phenotype of the original family with Charcot‐Marie‐Tooth type 1B: A 20‐year study
Authors: Bird Thomas D. , Kraft George H. , Lipe Hillary P. , Kenney Kimbra L. , Sumi S. Mark 
Published: January 2005

AbstractCharcot‐Marie‐Tooth type 1B is an uncommon form of hereditary motor and sensory neuropathy caused by mutations in the Po myelin protein gene on chromosome 1. We report here a 20‐year observation of 13 members of the first family with Charcot‐Marie‐Tooth disease to demonstrate linkage to chromosome 1 and now known to have a C270A mutation in the Po gene altering the extracellular domain of the protein. Affected individuals generally show an early age at onset, often indicated by delayed ability to walk. Proximal muscle weakness of the lower extremities is common and often marked, but the individuals remain ambulatory and there is no decrease in life span. Motor nerve conduction velocities of the fastest fibers are severely slowed (mean, 9–11 m/sec), even when compared with 3 families having Charcot‐Marie Tooth type 1A (mean, 19–21 m/sec). Variability of disability between family members suggests that genetic and environmental factors in addition to the Po mutation play a role in the final phenotype. Nerve biopsy specimens demonstrate hypertrophy, onion bulb formation, loss of myelinated fibers, and occasional myelin thickening similar to that described in Po myelin knockout mice. Autopsy of the 92‐year‐old great‐grandmother in this family demonstrated diffuse involvement of sensory and motor nerves, with loss of myelin in the posterior columns of the spinal cord and loss of anterior horn neurons but without other involvement of the central nervous system. This family demonstrates the long‐term phenotypic consequences on the peripheral nervous system system of a specific point mutation in the Po myelin gene.
Magnetic resonance imaging of periventricular leukomalacia and its clinical correlation in children
Authors: Olsén Päivi , Pääkkö Eija , Vainionpää Leena , Pyhtinen Juhani , JÄRvelin Marjo‐Riitta 
Published: January 2005

AbstractThe prevalence of periventricular leukomalacia and its association with clinical neurological signs in school‐age preterm children are unknown. We matched 42 eight‐year‐old children who were born before term with birth weights lower than 1,750 gm (mean, 1,410 gm; gestational age, 31 weeks) with 42 children who were born at term and of normal birth weight, to compare clinical neurological status and magnetic resonance imaging findings. Of the children born prematurely, 9.5% had cerebral palsy and 31% had minor neurological dysfunction whereas 9% of the children born at term had minor neurological dysfunction and none had cerebral palsy. Deviations in tongue movements, heel walking, Fogs test results, and finger opposition, as well as behavioral disturbances, differentiated the preterm from the full‐term group. The prevalence of periventricular leukomalacia among all children born prematurely was 32%. It was observed in all children with cerebral palsy, in 25% with minor neurological dysfunction, and in 25% of the clinically healthy preterm children. None of the children born at term had evidence of periventricular leukomalacia. Children with periventricular leukomalacia especially demonstrated poor performance on heel walking and Fogs test. Though commonly found in preterm children, periventricular leukomalacia is not uniformly associated with abnormal neurological findings. A through neurological examination is a better predictor of later developmental problems than is magnetic resonance imaging.
A novel presenilin‐1 mutation: Increased β‐amyloid and neurofibrillary changes
Authors: Gómez‐Isla T. , Wasco W. , Pettingell W. P. , Gurubhagavatula S. , Schmidt S. D. , Jondro P. D. , McNamara M. , Rodes L. A. , Diblasi T. , Growdon W. B. , Seubert P. , Schenk D. , Growdon J. H. , Hyman B. T. , Tanzi R. E. 
Published: January 2005

AbstractThe prevalence of known mutations in presenilin genes (PS1 and PS2) causing early‐onset familial Alzheimer's disease (FAD) was assessed in a population of 98 singleton early‐onset AD cases, 29 early‐onset FAD cases, and 15 late‐onset FAD cases. None of the cases tested positive for the eight mutations initially reported, and none of these mutations were observed in 60 age‐matched controls. A novel mutation (R269H) in PS1 was found in a single case of early‐onset AD but not in any other AD or control case. Thus, the PS mutations tested are quite rare in early‐onset AD. Amyloid β protein (Aβ) deposition was investigated in the temporal cortex of the R269H mutation case using end‐specific monoclonal antibodies to detect the presence of Aβx−40 and Aβx−42 subspecies. Stereologically unbiased tangle and neuropil thread counts were obtained from the same region. R269H PS1 mutation was associated with early age of dementia onset, higher amounts of total Aβ and Aβx−42, and increased neuronal cytoskeletal changes. Thus, if the changes observed on this case prove to be typical of PS1 mutations, PS1 mutations may impact both amyloid deposition and neurofibrillary pathology.
Friedreich‐like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the α‐Tocopherol transfer protein gene
Authors: Yokota Takanori , Shiojiri Toshiaki , Gotoda Takanari , Arita Makoto , Arai Hiroyuki , Ohga Tatsuhide , Kanda Takashi , Suzuki Junichi , Imai Tomihiro , Matsumoto Hiroyuki , Harino Seiyo , Kiyosawa Motohiro , Mizusawa Hidehiro , Inoue Keizo 
Published: January 2005

AbstractThe α‐tocopherol transfer protein (α‐TTP) is a cytosolic liver protein that is presumed to function in the intracellular transport of α‐tocopherol, the most biologically active form of vitamin E. We studied 4 unrelated patients with autosomal recessive Friedreich‐like ataxia who had isolated vitamin E deficiency. A point mutation was identified in all of them at position 101 of the gene for α‐TTP, where histidine (CAT) was replaced with glutamine (CAG). Three of the 4 patients developed retinitis pigmentosa subsequent to the onset of ataxia. Neurological symptoms included ataxia, dysarthria, hyporeflexia, and decreased proprioceptive and vibratory sensations. Electrophysiological and pathological examinations showed that the cardinal sites affected were the central axons of dorsal root ganglion cells and the retina, with minor involvement of the peripheral sensory nerve, optic nerve, and pyramidal tract. The vitamin E tolerance test performed showed that the absorption of vitamin E was normal but that its decrease from the serum was accelerated. Oral administration of vitamin E appeared to halt the progression of visual and neurological symptoms. We propose a new treatable syndrome of Friedreich‐like ataxia and retinitis pigmentosa caused by a defect in the α‐TTP gene.
Accumulation of β‐amyloid precursor protein in HIV encephalitis: Relationship with neuropsychological abnormalities
Authors: Giometto Bruno , An Shu F. , Groves Mike , Scaravilli Tomaso , Geddes Jennian F. , Miller Robert , Tavolato Bruno , Beckett Andrew A. J. , Scaravilli Francesco 
Published: January 2005

AbstractThe pathogenesis of neuropsychological abnormalities in patients with human immunodeficiency virus type 1 (HIV‐1) encephalitis is obscure because neurons are not the target of infection and severe neuronal loss occurs only late during the disease. Moreover, there is evidence indicating that HIV dementia is not a homogeneous entity and could partially reverse after treatment with zidovudine. The finding that impaired axonal flow, evidenced by β‐amyloid precursor protein immunoreactivity, could contribute to the neuropsychological deficits prompted the present study. Brains of patients with full‐blown acquired immunodeficiency syndrome (AIDS) were studied and findings compared with those of normal and abnormal control subjects. The presence of HIV‐1 DNA was investigated by nested polymerase chain reaction; axonal abnormalities were detected by β‐amyloid precursor protein, ubiquitin immunohistochemistry, and silver staining. Accumulation of β‐amyloid precursor protein was observed in all the HIV encephalitis brains studied; the appearance of the immunostaining varied from globular structures to bundles of parallel formations. In 2 AIDS brains without pathological abnormalities, only the latter pattern was detected. The brains with trauma were strongly reactive with β‐amyloid precursor protein antibody and the different reactivity within them correlated with posttrauma survival, only globular structures being detected in the older cases. No correlation was found between the different pattern of β‐amyloid precursor protein reactivity and dementia in AIDS patients. These results show that widespread axonal injury is a constant feature in AIDS brains and suggest that it could play a role in the pathogenesis of the neuropsychological abnormalities of these patients.