Abstract:
:The gross and histopathological findings in the brain and spinal cord of five Alaskan Husky dogs with a novel incapacitating and ultimately fatal familial and presumed hereditary neurodegenerative disorder are described. Four dogs presented with neurological deficits before the age of 1 year (7-11 months) and one animal at 2.5 years old. Clinical signs in all dogs were of acute onset and included ataxia, seizures, behavioral abnormalities, blindness, facial hypalgesia and difficulties in prehension of food. In animals allowed to survive, the disease was static but with frequent recurrences. Pathological findings were limited to the central nervous system. Grossly visible bilateral and symmetrical cavitated foci were consistently present in the thalamus with variable extension into the caudal brain stem. Microscopic lesions were more widespread and included foci of bilateral and symmetrical degeneration in the basal nuclei, midbrain, pons and medulla, as well as multifocal lesions at the base of sulci in the cerebral cortex and in the gray matter of cerebellar folia in the ventral vermis. Neuronal loss with concomitant neuronal sparing, spongiosis, vascular hypertrophy and hyperplasia, gliosis, cavitation and transient mixed inflammatory infiltration were the main histopathological findings. In addition, a population of reactive gemistocytic astrocytes with prominent cytoplasmic vacuolation was noted in the thalamus. Lesions of this nature in this distribution within the neuroaxis have not been reported in dogs. The neuropathological findings resemble Leigh's disease/subacute necrotizing encephalomyelopathy of man. Neuronal sparing in conjunction with apparently transient astrocytic vacuolation point to the possible pathogenetic role of astrocytes in the evolution of these lesions. An inherited metabolic derangement of unknown nature is postulated as the cause of this breed-specific disorder.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Brenner O,Wakshlag JJ,Summers BA,de Lahunta Adoi
10.1007/s004010051192subject
Has Abstractpub_date
2000-07-01 00:00:00pages
50-62issue
1eissn
0001-6322issn
1432-0533journal_volume
100pub_type
杂志文章abstract::This study concerns an autopsy case of motor neuron disease with dementia (MND-D) that exhibited unusual clinical and neuropathological findings. The patient was a Japanese man without any relevant family history who was 60 years old at the time of death. His clinical manifestation included character change at the age...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-001-0482-8
更新日期:2002-05-01 00:00:00
abstract::The immunohistochemical distribution of alpha and beta subunits of S-100 protein (S-100 alpha, S-100 beta, respectively) in 138 cases of human brain tumors was investigated by the avidin-biotin immunoperoxidase method. Brain tumors can be divided into four groups: group 1 [S-100 alpha (+) and/or S-100 beta (+)]; astro...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00296376
更新日期:1991-01-01 00:00:00
abstract::Muscle biopsy samples from five patients with cytoplasmic body myopathy (CBM) were investigated by immunohistochemical (antibodies to desmin, actin, dystrophin, spectrin, alpha actinin and utrophin), immunoelectron microscopic (antibodies to desmin, actin and dystrophin) and biochemical (desmin, dystrophin, actin and ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00294314
更新日期:1995-01-01 00:00:00
abstract::Eleven atypical teratoid/rhabdoid tumors (AT/RT) and 121 primitive neuroectodermal tumors/medulloblastomas (PNET/MB) were included in this study for evaluation of the histopathological features of AT/RT and comparison between AT/RT and PNET/MB. Histopathological studies of AT/RT showed that in addition to the commonly...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010051149
更新日期:2000-05-01 00:00:00
abstract::A retrospective study of 450 consecutive AIDS autopsy cases (397 males, 53 females; mean age at death 38.4 years) in Vienna, Austria, between 1984 and 1999 compares the central nervous system (CNS) findings in three cohorts: 1984-1992 (190 cases), 1993-1995 (162 cases) and 1996-1999 (98 cases, after introduction of tr...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010000245
更新日期:2000-08-01 00:00:00
abstract::Evidence of misfolded wild-type superoxide dismutase 1 (SOD1) has been detected in spinal cords of sporadic ALS (sALS) patients, suggesting an etiological relationship to SOD1-associated familial ALS (fALS). Given that there are currently a number of promising therapies under development that target SOD1, it is of cri...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-016-1623-4
更新日期:2016-12-01 00:00:00
abstract::Pontocerebellar hypoplasia type 2 (PCH-2; MIM 277470), an autosomal recessive neurodegeneration with fetal onset, was studied in six autopsies with ages at death ranging between 1 and 22 years. Three patients were distantly related. A case of olivopontocerebellar hypoplasia (OPCH; MIM 225753) was studied for compariso...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-007-0263-0
更新日期:2007-10-01 00:00:00
abstract::"Diffuse neurofibrillary tangles with calcification" (DNTC) is a rare form of slowly progressive dementia characterized by temporal or fronto-temporal atrophy with neuronal loss and astrocytosis, neurofibrillary tangles and Fahr-type calcification, but no senile plaques in the cerebral cortex. In patients with DNTC, w...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010100411
更新日期:2001-12-01 00:00:00
abstract::Research efforts during the last decade have deciphered the basic molecular mechanisms governing mitochondrial fusion and fission. We now know that in mammalian cells mitochondrial fission is mediated by the large GTPase dynamin-related protein 1 (Drp1) acting in concert with outer mitochondrial membrane (OMM) protein...
journal_title:Acta neuropathologica
pub_type: 杂志文章,评审
doi:10.1007/s00401-011-0930-z
更新日期:2012-02-01 00:00:00
abstract::We present a case of progressive supranuclear palsy (PSP) with palatal myoclonus occurred in a 64-year-old man. The nucleus olivaris of the medulla oblongata showed high signal intensity on T2-weighted MR images, indicating brainstem tegmental atrophy, which were confirmed as hypertrophy of the nucleus inferior olivar...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050706
更新日期:1997-09-01 00:00:00
abstract::Conventional genetic approaches and computational strategies have converged on immune-inflammatory pathways as key events in the pathogenesis of late onset sporadic Alzheimer's disease (LOAD). Mutations and/or differential expression of microglial specific receptors such as TREM2, CD33, and CR3 have been associated wi...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-017-1737-3
更新日期:2017-11-01 00:00:00
abstract::A unique pathological finding of astrocytes was observed in the brain of a 20-year-old man who had severe physical and mental retardation. The brain was malformed showing micropolygyria in several cortical areas. A large number of hypertrophic astrocytes with eosinophilic granular substances in their cytoplasm were fo...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00427225
更新日期:1992-01-01 00:00:00
abstract::To clarify the role of prostaglandins in peripheral nerve demyelination, we examined the expression of cyclooxygenase-2 (COX-2) using selected nerve specimens from patients with chronic inflammatory demyelinating polyneuropathy. COX-2 protein was up-regulated in macrophages causing active demyelination. In situ hybrid...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010000279
更新日期:2001-02-01 00:00:00
abstract::Human adenovirus type 12 (Ad 12) was inoculated intraperitoneally, intrapleurally, intramuscularly or subcutaneously into newborn rodents. Tumors developed preferentially in the peritoneal cavities in 93.9% of the hamsters and 82.6% of the mice, but none in rats; in contrast to the high incidence of brain tumors in ra...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687575
更新日期:1989-01-01 00:00:00
abstract::Morphometric observations have been made on the medial plantar division of the tibial nerve (MPD) and on the motor branches of the tibial nerve to the calf muscles (MBC) in rats ranging in age from weaning (3 weeks) to 12 months. Axon size, assessed by measurements of circumference and cross-sectional area, increased ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00308712
更新日期:1990-01-01 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::Inflammatory myopathy with abundant macrophages (IMAM) and dermatomyositis (DM) are considered to represent related disorders, since they share inflammatory infiltrates and skin alterations. In order to get more insight into these disorders, we addressed the cellular composition of the inflammatory infiltrates in musc...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-009-0570-8
更新日期:2009-12-01 00:00:00
abstract::In adult mice, administration of the anticonvulsive drug phenytoin caused focal swellings along the Purkinje cell axon correlated with ataxia and incoordination of movements. In our model, we used murine cerebellar slice cultures to study the influence of phenytoin on postnatal Purkinje cell axon differentiation. Almo...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050844
更新日期:1998-06-01 00:00:00
abstract::Multiple sclerosis (MS) is the most frequent demyelinating disease in young adults and despite significant advances in immunotherapy, disease progression still cannot be prevented. Promotion of remyelination, an endogenous repair mechanism resulting in the formation of new myelin sheaths around demyelinated axons, rep...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-020-02217-8
更新日期:2020-11-01 00:00:00
abstract::Patients with von Hippel-Lindau disease carry a germline mutation of the Von Hippel-Lindau (VHL) tumor-suppressor gene. We discuss the molecular consequences of loss of VHL gene function and their impact on the nervous system. Dysfunction of the VHL protein causes accumulation and activation of hypoxia inducible facto...
journal_title:Acta neuropathologica
pub_type: 杂志文章,评审
doi:10.1007/s00401-013-1091-z
更新日期:2013-03-01 00:00:00
abstract::Massive GGGGCC repeat expansion in the first intron of the gene C9orf72 is the most common known cause of familial frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Despite its intronic localization and lack of an ATG start codon, the repeat region is translated in all three reading fra...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-013-1189-3
更新日期:2013-12-01 00:00:00
abstract::The distribution of apolipoprotein E (ApoE) was studied in the brain tissue of cases of the amyotrophic lateral sclerosis-parkinsonism-dementia complex of Guam, locally known as lytico bodig disease (LB), and compared with cases of Alzheimer's disease (AD) and normal brain tissue. In both LB and AD, strong ApoE immuno...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050533
更新日期:1996-10-01 00:00:00
abstract::Aim of the present study was to establish different immunohistochemical staining patterns for a subsequent comparison with those of primitive neuroectodermal (PNET) subsets, i.e. PNET-NOS (not otherwise specified) or PNET with focal neuronal, astrocytic or ependymal differentiation, to relate neoplastic to embryonal d...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00293385
更新日期:1991-01-01 00:00:00
abstract::Lectin-binding sites located on the endothelial cell (EC) surfaces in unaltered, leaking and resorbing micro-blood vessels (MBVs) in cryo-injured cat brain were studied. Lectin or glycoprotein-gold complexes and brain samples embedded in hydrophilic resin Lowicryl K4M were used. The lectins tested recognize the follow...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00691427
更新日期:1986-01-01 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::We investigated clinicopathologically pyramidal signs, including hyperreflexia, Babinski sign, and spasticity, and the involvement of the primary motor cortex and pyramidal tract, in eight Japanese autopsy cases of amyotrophic lateral sclerosis (ALS) with dementia. Pyramidal signs were observed in seven (88%) of the e...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-002-0543-7
更新日期:2002-09-01 00:00:00
abstract::To determine the origin of the large myelinated fibers in the anterolateral funiculus (ALF) in the spinal cord of humans, myelinated fibers in the ALF of the mid-cervical spinal cord were examined quantitatively. Five groups of subjects were examined, consisting of control subjects, patients with cerebral lesions and ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010051129
更新日期:1999-12-01 00:00:00
abstract::Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to selective motoneuron cell death is not fully understood yet. In t...
journal_title:Acta neuropathologica
pub_type: 杂志文章,评审
doi:10.1007/s00401-008-0411-1
更新日期:2008-09-01 00:00:00
abstract::To elucidate whether the apolipoprotein E epsilon4 allele (APOE4) affects cortical neuropathology in Parkinson's disease (PD), we determined APOE genotypes and quantified the densities of cortical Lewy bodies (LBs), amyloid plaques and neurofibrillary tangles in 22 autopsy-proven PD cases (12 with dementia; 10 without...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050824
更新日期:1998-05-01 00:00:00
abstract::There is evidence that apoptotic cell death mechanisms contribute to muscle fibre loss in dystrophinopathies, but little knowledge about the activators of the final degrading caspase cascade in muscle fibre apoptosis. As mitochondria-related activation of this caspase cascade, through e.g. APAF-1, could not be proven ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-004-0934-z
更新日期:2005-02-01 00:00:00