Abstract:
:The identification of the alpha-synuclein gene on chromosome 4q as a locus for familial Lewy-body parkinsonism and of alpha-synuclein as a component of Lewy bodies has heralded a new era in the study of Parkinson's disease. We have identified a large family with Lewy body parkinsonism linked to a novel locus on chromosome 4p15 that does not have a mutation in the alpha-synuclein gene. Here we report the clinical and neuropathological findings in an individual from this family and describe unusual high molecular weight alpha-synuclein-immunoreactive proteins in brain homogenates from brain regions with the most marked neuropathology. Distinctive histopathology was revealed with alpha-synuclein immunostaining, including pleomorphic Lewy bodies, synuclein-positive glial inclusions and widespread, severe neuritic dystrophy. We also discuss the relationship of this familial disorder to a Lewy body disease clinical spectrum, ranging from Parkinson's disease to dementia with psychosis.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Gwinn-Hardy K,Mehta ND,Farrer M,Maraganore D,Muenter M,Yen SH,Hardy J,Dickson DWdoi
10.1007/s004010051177subject
Has Abstractpub_date
2000-06-01 00:00:00pages
663-72issue
6eissn
0001-6322issn
1432-0533journal_volume
99pub_type
杂志文章abstract::A massive expansion of a GGGGCC repeat upstream of the C9orf72 coding region is the most common known cause of amyotrophic lateral sclerosis and frontotemporal dementia. Despite its intronic localization and lack of a canonical start codon, both strands are translated into aggregating dipeptide repeat (DPR) proteins: ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-015-1450-z
更新日期:2015-10-01 00:00:00
abstract::It is well established that the binding of pathogenic aquaporin-4 (AQP4)-specific autoantibodies to astrocytes may initiate a cascade of events culminating in the destruction of these cells and in the formation of large tissue-destructive lesions typical for patients with neuromyelitis optica spectrum disorders (NMOSD...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-018-1950-8
更新日期:2019-03-01 00:00:00
abstract::Mouse embryos were infected with murine cytomegalovirus (MCMV) by injecting the virus into the cerebral ventricles at the late gestation. After deliveries, offspring were fed by the mothers until 4 weeks. Cystic brain lesions, regarded as porencephaly or paraventricular cysts, were observed in about 20% of the MCMV-in...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00293377
更新日期:1991-01-01 00:00:00
abstract::In order to further evaluate the parameters whereby intracerebral administration of recombinant α-synuclein (αS) induces pathological phenotypes in mice, we conducted a series of studies where αS fibrils were injected into the brains of M83 (A53T) and M47 (E46K) αS transgenic (Tg) mice, and non-transgenic (nTg) mice. ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-014-1268-0
更新日期:2014-05-01 00:00:00
abstract::Six medulloblastomas were studied by electron microscopy. Two features were found which seem to be constant and essential characteristics of medulloblastoma. First, cell junctions are abundant between tumor cells. These are mostly desmosome-like but other, closer junctions, were also seen. Second, the capillary endoth...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00685966
更新日期:1975-10-27 00:00:00
abstract::X-linked lissencephaly with abnormal genitalia (XLAG) is a rare disorder caused by mutations in the aristaless-related homeobox (ARX) gene, located on Xp22.13. Arx-null mice show loss of tangential migration of GABAergic interneurons, presumably being related to caudal ganglionic eminence tangential migration. In the ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-008-0382-2
更新日期:2008-10-01 00:00:00
abstract::The formation of oedema in peripheral nerves was studied in rats at intervals varying from 6 h to 14 days after transection of the right sciatic nerve. Samples were removed proximal and distal to the injury, and the degree of oedema was determined by a microgravimetric method and by measurements of the water content a...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00686069
更新日期:1986-01-01 00:00:00
abstract::The conventional concept of Pick's disease does not distinguish Pick's disease with Pick bodies (Pick body disease, PBD) from Pick's disease without Pick bodies [lobar atrophy without Pick bodies, LA-PB(-)]. Recently, intraneuronal ubiquitin-positive inclusions (ub-inclusions), which are thought to be a hallmark of am...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-001-0513-5
更新日期:2002-07-01 00:00:00
abstract::Defective interfering influenza virus particles lessened the yield of infective virus recovered from brain after intracerebral challange of 3-week old mice, but failed to affect the appearance of disease or lethality. In 7-week old mice, the presence of defective interfering influenza virus particles reduced both leth...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00684666
更新日期:1976-03-15 00:00:00
abstract::The nature and distribution of vascular changes in acute Wernicke's encephalopathy (WE) were analyzed in three autopsy cases. Lesions of the lateral vestibular nucleus of the medulla oblongata (three cases) and lateral ventricular wall (one case) were examined by reconstruction of 200 serial sections, and the capillar...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00307646
更新日期:1995-01-01 00:00:00
abstract::A cerebral biopsy was performed in a 39-year-old male patient with subacute paraparesis who later developed severe dementia and moderate cerebellar involvement. The histological examination showed a marked neuronal loss, severe neurofibrillary degeneration, and a great number of senile plaques. No PAS-positive plaques...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00703200
更新日期:1983-01-01 00:00:00
abstract::In order to elucidate the immunohistochemical features of hydrocephalic ependyma, immunohistochemical examination was undertaken in 11 normal, postmortem brains (age range, 11 weeks' postconception to 6 months after birth) and 12 hydrocephalic brains (three cases each of congenital aqueductal stenosis, Dandy-Walker ma...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050493
更新日期:1996-07-01 00:00:00
abstract::The kidney of a 7-month-old male Cairn terrier with globoid cell leukodystrophy (GLD) was investigated with light and electron microscopes. A few tubular epithelial cells in the inner medulla as well as some exfoliated cells in the lumina revealed PAS-positive cytoplasm in which needle-like structures were to be seen ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687036
更新日期:1986-01-01 00:00:00
abstract::We studied the densities of utrophin and dystrophin at the motor end-plates of patients with myasthenia gravis (MG) using immunohistochemical analysis. The densities were compared with those found in patients with amyotrophic lateral sclerosis, Lambert-Eaton myasthenic syndrome and normal controls. Utrophin was reduce...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050483
更新日期:1996-07-01 00:00:00
abstract::Changes in immature rats in motor neurones after axotomy were studied by enzyme-histochemical methods. Increased activity of dehydrogenases in these neurones demonstrates enhanced metabolism and there was also increase of acid phosphatases. Decreased activity of acetylcholinesterase and indoxylacetate esterase in the ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00686163
更新日期:1975-12-30 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) is a lethal disease characterized by motor neuron degeneration and associated with aggregation of nuclear RNA-binding proteins (RBPs), including FUS. How FUS aggregation and neurodegeneration are prevented in healthy motor neurons remain critically unanswered questions. Here, we use...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-019-01998-x
更新日期:2019-07-01 00:00:00
abstract::Basal ganglionic lesions in three young infants were found in a prospective search for early stages of status marmoratus. The lesions had formed and had passed into glial scars well before myelination of the basal ganglia commenced. The myelinating fibers crossing the scarred tissue were disoriented; however, fiber st...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688558
更新日期:1977-05-16 00:00:00
abstract::This ultrastructural study deals with the synapses of primary dendrites of the anterior horn neurons in the lower lumbar spinal cords of seven patients with amyotrophic lateral sclerosis (ALS) who had mild neuronal depletion. Specimens from seven age-matched, neurologically normal individuals served as controls. In ea...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050426
更新日期:1996-01-01 00:00:00
abstract::Using a 3H-labelled virion DNA probe applied to tissue sections, we have previously identified the precise microscopic anatomical location of herpes simplex virus (HSV) during the acute and latent stages of infection of the mouse trigeminal ganglia and central nervous system (CNS). In the present investigation, we com...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00692842
更新日期:1987-01-01 00:00:00
abstract::This paper examines the neuropathology of oxygen-glucose deprivation uncomplicated by stagnant conditions. Rabbit vagus nerves were pulled into a multi-compartment perfusion chamber, stimulated five times per second and deprived of energy by substituting nitrogen and deoxyglucose for oxygen and glucose in the Locke's ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00685378
更新日期:1982-01-01 00:00:00
abstract::Alpha-synuclein (αSyn) preformed fibrils (PFF) induce endogenous αSyn aggregation leading to reduced synaptic transmission. Neuronal activity modulates release of αSyn; however, whether neuronal activity regulates the spreading of αSyn pathology remains elusive. Here, we established a hippocampal slice culture system ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-020-02227-6
更新日期:2020-12-01 00:00:00
abstract::The thoracic sympathetic preganglionic outflow is important in the maintenance of postural normotension in man. Normative data on the intermediolateral column (ILC) neuron cell bodies is lacking. Counts and measurements on the right ILC cytons have been performed on the T6, T7 and T8 segments of 12 spinal cords of man...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688573
更新日期:1977-09-26 00:00:00
abstract::The recently identified GGGGCC repeat expansion in the noncoding region of C9ORF72 is the most common pathogenic mutation in patients with frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS). We generated a human neuronal model and investigated the pathological phenotypes of human neurons containing G...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-013-1149-y
更新日期:2013-09-01 00:00:00
abstract::We report a sporadic tauopathy of 6-year duration in a 76-year-old woman. Her initial symptoms were asymmetrical parkinsonism and muscle weakness, with apraxia appearing 2 years later. The brain showed frontal and temporal cerebral atrophy; severe neuronal loss and gliosis were observed in the precentral cortex (loss ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-005-1086-5
更新日期:2005-12-01 00:00:00
abstract::Neurofibrillary tangles were induced in the motor neurons of the rabbit spinal cord by the intrathecal injection of colchicine, vinblastine, and vincristine. The tangles stained intensely by immunofluorescence and by the peroxidase-anti-peroxidase procedure using neurofilament antisera raised against chicken brain ant...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00690460
更新日期:1980-01-01 00:00:00
abstract::The spinal cord of 20 patients with amyotrophic lateral sclerosis (ALS) and 5 patients with lower motor neuron disease (LMND) were investigated immunohistochemically using anti-human excitatory amino acid transporter 1 (EAAT1) and EAAT2 antibodies which are the astrocytic transporters. The purpose of the study was to ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004019900159
更新日期:2000-08-01 00:00:00
abstract::A 1-year-old male chinchilla with a 2-week history of conjunctivitis suffered subsequently from neurological signs comprising seizures, disorientation, recumbency and apathy. After 3 weeks of progressive central nervous disease the animal was killed in view of the poor prognosis. A non-suppurative meningitis and polio...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-002-0597-6
更新日期:2002-12-01 00:00:00
abstract::The glial cytoplasmic inclusion (GCI) is a histological hallmark for multiple system atrophy (MSA): these inclusions are found in oligodendrocytes and consist of abnormal granule-coated fibrils of approximately 24- to 40-nm diameter. To clarify the significance of the presence of midkine (MK) in these GCIs, we carried...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010000214
更新日期:2000-11-01 00:00:00
abstract::An analysis is presented of the immunohistological and ultrastructural features in a series of 118 surgically removed pituitary adenomas all of which were studied immunohistologically using antisera to growth hormone (GH), prolactin (PRL) ACTH, beta FSH, beta LH and beta TSH, and 75 of which were studied ultrastructur...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00684914
更新日期:1983-01-01 00:00:00
abstract::A simple and reproducible method for cryopreservation of brain tissue from patients with Alzheimer's disease is described. Fresh brain slices (1 cm thick) obtained less than 6 h postmortem are placed in sealed plastic bags, sandwiched between 0.3-cm-thick aluminium sheets, and frozen by placing the entire "sandwich" b...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00294305
更新日期:1993-01-01 00:00:00