1/61. amyotrophic lateral sclerosis with dementia. Case report.A patient is described in whom a profound and rapidly progressive dementia occurred in association with clinical features of amyotrophic lateral sclerosis. A magnetic resonance imaging showed signs of frontal and especially left temporal atrophy. The pattern of dementia indicated impaired frontotemporal lobe functions, evidenced by reduced tracer uptake in the frontotemporal lobes on brain single photon emission computed tomography. Neuropathological examination in this patient revealed mild frontotemporal atrophy with spongiform changes and neuronal loss affecting mainly layers II and III of the frontotemporal cortices. There was atrophy of the hypoglossal nuclei. The spinal cord changes were consistent with motor neuron disease. The patient showed an irreversible and progressive course. A review of the relevant literature was made.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
2/61. Semantic dementia with ubiquitin-positive tau-negative inclusion bodies.Three cases are reported with dementia and ubiquitin-positive but tau-negative inclusion bodies. All patients had a semantic dementia and the clinical details of two of these have been published as the first description of a selective semantic memory impairment. The original diagnosis had been of Pick's disease based on frontotemporal atrophy, but re-examination has revealed ubiquitin-positive but tau-negative inclusions as well as neurites in the frontotemporal cortices and ubiquitin-positive, intracytoplasmic inclusions in the granule cells of the dentate fascia. These inclusions are identical to those reported in association with amyotrophic lateral sclerosis (motor neuron disease), but none were seen in brainstem or spinal cord motor neurons.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
3/61. Atypical dementia and spastic paraplegia in a patient with primary lateral sclerosis and numerous necortical beta amyloid plaques: new disorder or Alzheimer's disease variant?Primary lateral sclerosis (PLS) and hereditary spastic paraplegia (HSP) are clinically similar disorders in which progressive lower limb spasticity and corticospinal tract degeneration are characteristic. We report the occurrence of progressive spastic paraplegia and frontal systems dementia in a patient with postmortem features of PLS combined with moderate Alzheimer-like changes in neocortex and hippocampus. This combination of clinical and neuropathologic findings has not been described in PLS or HSP and varies from other cases in which spastic paraplegia, dementia, and Alzheimer neuropathology occurred concurrently. This 69-year-old woman developed spastic quadriplegia and dementia over 12 years. Left leg weakness progressed over 7 years to paraplegia, then quadriplegia by age 68. Sensory and cerebellar function were preserved and fasciculations were absent. Dementia characterized by concrete thinking, perseveration, and impaired executive function appeared in the seventh year and remained relatively stable until 6 months before death at age 69. Degeneration of the lateral corticospinal and dorsal spinocerebellar tracts confined to the spinal cord was evident at postmortem examination. brain stem, midbrain, and cerebellum were normal. Numerous beta/A4 amyloid positive diffuse plaques (10-15/200x field) were apparent in neocortex, and neurofibrillary tangles immunopositive for paired helical filament were detected in hippocampus. This case broadens the spectrum of disorders associated with Alzheimer neuropathologic changes. The relationship between PLS, HSP, and Alzheimer's disease requires further study.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
4/61. Atypical amyotrophic lateral sclerosis with dementia mimicking frontal Pick's disease: a report of an autopsy case with a clinical course of 15 years.This report concerns an autopsy case of atypical amyotrophic lateral sclerosis (ALS) with dementia mimicking frontal Pick's disease. The patient was a Japanese woman without hereditary burden who was 45 years old at the time of death. She developed abnormal behavior and amnesia at age 30, followed by disinhibition, aspontaneity, urinary incontinence, abulia, and rectal incontinence. Neurological signs compatible with ALS developed about 14 years after the disease onset. No respirator was used throughout the clinical course. Macroscopically, neuropathological examination showed atrophy of the frontotemporal lobes with accentuation in the convexities of the frontal lobes. Histologically, there was neuronal loss in the cerebral cortex, parahippocampal gyrus, amygdala, caudate nucleus, substantia nigra, brain stem motor nuclei, and anterior horns of the spinal cord, in addition to marked degeneration of the pyramidal tracts. ubiquitin-immunoreactive neuronal inclusions were present in the frontotemporal cortical layer II neurons and motor neurons in the brain stem and spinal cord. In the hippocampal dentate granular cells, many ubiquitin-immunoreactive neurites were present without ubiquitin-immunoreactive intraneuronal inclusions. Based on these clinicopathological findings and a review of the literature, we concluded that our case was atypical ALS with dementia of long disease duration. We also note the possibility that motor neuron disease-inclusion dementia with a long clinical course may develop into ALS in the final stage of the illness.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
5/61. frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions.Dementia of motor neuron disease type (DMND) is a variety of frontotemporal dementia (FTD) which is pathologically defined by characteristic neuronal ubiquitinated, tau- and synuclein-negative intracytoplasmic inclusions. Many cases with this pathology, however, do not have motor neuron disease. In the present study, we document the presence of ubiquitinated neuronal intranuclear inclusions in a sub-population of cases of neuropathologically verified DMND. Immunohistochemical localization of ubiquitin was performed on sections of post-mortem brain from 12 patients with DMND as well as from cases with other neurodegenerative diseases including amyotrophic lateral sclerosis, Parkinson's disease, dementia with lewy bodies, corticobasal degeneration, progressive supranuclear palsy, and multiple system atrophy. All of the cases of DMND showed ubiquitinated, tau-negative intracytoplasmic inclusions in dentate granule cells and cortical neurons. Of these 12 cases of DMND, 3 also showed neuronal ubiquitinated intranuclear inclusions. In 1 of these cases, CAG repeat expansions in the genes known to harbor these mutations were excluded. Cases with intranuclear inclusions displayed striatal atrophy and reduced brain weight relative to non-inclusion-bearing cases. In addition, patients with intranuclear inclusions tended to have a younger age of onset, a prolonged duration of disease, absence of motor neuron symptoms, and a family history of dementia. Intranuclear inclusions were not identified in the control cases with other neurodegenerative diseases. Ubiquitinated neuronal intranuclear inclusions have not been reported previously in DMND. The presence of ubiquitinated intranuclear inclusions along with striatal atrophy in a subset of cases of DMND may signify the existence of a neuropathologically distinct subset of this unique form of FTD.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
6/61. motor neuron disease presenting with slow saccades and dementia.A 46-year-old man with a 2-year history of dementia presented with very slow saccades and tongue fasciculations. The diagnosis of amyotrophic lateral sclerosis (ALS) was established by electrophysiologic studies and ultimately on autopsy. Rarely, slowed saccades may be present in ALS, and slow saccades in a relatively young demented patient should prompt consideration of ALS.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
7/61. ALS-plus: 5 cases of concomitant amyotrophic lateral sclerosis and parkinsonism.According to El Escorial criteria, amyotrophic lateral sclerosis (ALS), combined with other neurologic disorders, such as dementia and parkinsonism, is defined as ALS-plus. These overlaping syndromes are extremely rare. Here we report 5 cases (3 men, 2 women) of ALS-plus; mean age at the onset of symptoms was 67 years (range, 65-72). In 3 patients, motoneuronal signs preceded the onset of parkinsonian syndrome. In 4 cases, the clinical picture was characterized by the prevalence of motoneuronal signs. Parkinsonism was poorly responsive to L-dopa treatment in all patients. The clinical course did not differ from that expected in patients with only ALS. Our clinical observations and neuropathological reports of nigral neuronal loss in ALS patients suggest a common pathogenic mechanism underlying these disorders.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
8/61. A clinical and pathological study of a Japanese case of amyotrophic lateral sclerosis/Parkinsonism-Dementia Complex with family history.This report concerns a Japanese family with neuropathological findings consistent with amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) in the Island of guam. The proband was a 68-year-old woman with an 8-year history of parkinsonism which was followed by psychiatric symptoms and neurogenic amyotrophy 5 years after the onset. She had a family history of parkinsonism associated with dementia in all of her three siblings. They grew up in the Hobara village, a focus of amyotrophic lateral sclerosis in the Kii Peninsula of japan in their childhood. Their parents were not consanguineous nor natives of the Kii Peninsula. The brain weight was 1040 g and there were mild frontal lobe atrophy, moderate atrophy of pes hippocampi, decoloration of the substantia nigra and locus coeruleus, and atrophy of the anterior root of the spinal cord. The microscopic examinations revealed degeneration of CA1 portion of the hippocampus to the parahippocampus gyrus, substantia nigra, locus coeruleus and spinal anterior horn with Bunina bodies. The spinal pyramidal tracts also mildly degenerated. neurofibrillary tangles (NFT) were observed in the cerebral cortex, especially in the cortices from hippocampus to lateral occipitotemporal gyri, basal nucleus of Mynert, basal ganglia, thalamus, substantia nigra and widespread regions of the central nervous system through the brainstem to spinal cord including the nucleus of Onufrowitcz. In spite of a small amount of the senile plaques in the cerebral cortex and lewy bodies in the substantia nigra and locus coeruleus, abundant NFT were distributed mainly in the third layer of the cerebral cortex, which is the characteristic feature of ALS/PDC. Thus, this was likely to be an ALS/PDC case outside the guam Island. A tau mutation was not found on dna analysis.- - - - - - - - - - ranking = 0.4keywords = sclerosis (Clic here for more details about this article) |
9/61. Pathological involvement of the motor neuron system and hippocampal formation in motor neuron disease-inclusion dementia.We report two patients with motor neuron disease-inclusion dementia, with special reference to the pathology of the motor neuron system and hippocampal formation. The ages of the patients at death were 55 and 62 years, and the disease durations were 8 and 3 years, respectively. The two patients exhibited progressive frontotemporal dementia in the absence of motor neuron signs. At autopsy, both cases exhibited frontotemporal lobar atrophy with ubiquitin-positive, and tau- and alpha-synuclein-negative neuronal inclusions. As expected from the clinical signs, in both cases, the upper and lower motor neuron systems were well preserved: no Bunina bodies or ubiquitinated inclusions were detected in the motor neurons. However, of great importance was that when visualized immunohistochemically, the golgi apparatus and trans-golgi network often exhibited fragmentation in the lower motor neurons (the spinal anterior horn cells). In one of the cases, a decrease in the amount of golgi apparatus was also a frequent feature in the upper motor neurons (Betz cells in the motor cortex). Moreover, in both cases, circumscribed degeneration affecting the CA1-subiculum border zone was evident in the hippocampal formation. These findings further strengthen the idea that, pathologically, motor neuron disease-inclusion dementia is a rare phenotype of amyotrophic lateral sclerosis.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
10/61. Frontotemporal and motor neurone degeneration with neurofilament inclusion bodies: additional evidence for overlap between FTD and ALS.We present the case of a patient who had clinical frontal lobe dementia without apparent motor neurone disease (MND), with pathologic findings not typical of any single currently classified frontotemporal degeneration (FTD). At autopsy, the brain had frontal and temporal atrophy with neuronal loss, gliosis, and superficial spongiosis, typical of all FTDs. There were at least three different morphologic types of intracytoplasmic neuronal inclusions in a variety of brain and brainstem regions, including the hippocampal dentate gyrus and pyramidal neurones, the neocortex (in particular, the motor cortex), basal ganglia, thalamus, subthalamic nucleus, basis pontis, and inferior olivary nuclei. Inclusions had the morphologies of Pick-like bodies, pleomorphic inclusions, and hyaline conglomerate (HC)-like inclusions. None of these were positive with tau immunostains. Pick-like bodies in the dentate gyrus were labelled with ubiquitin. The pleomorphic inclusions in the neocortex and dentate gyrus and the HC-like inclusions in the motor and parietal cortex were strongly positive with immunostains for neurofilament. We discuss the differential diagnosis and compare this case with those disorders to which it is most similar. In particular, we compare the unique neurofilament-positive inclusions to the inclusions of FTD-MND, to Pick bodies, and to the basophilic and HC inclusions that are occasionally seen in amytrophic lateral sclerosis (ALS). Although FTD-MND may be found in ALS, the findings in this case may have additional implications for a link between FTD and ALS.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
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