1/75. Early thalamic and cortical hypometabolism in adult-onset dementia due to metachromatic leukodystrophy.A case of early-onset adult dementia with family history of dementia is reported, characterised by neuropsychological deficits, suggesting frontal involvement, with mild non specific white matter abnormalities on CT scan. Familial Alzheimer's disease was suspected but the neuropathological diagnosis on brain biopsy was metachromatic leukodystrophy. 18FDG-PET revealed a very peculiar pattern of metabolic impairment in thalamic areas, in medial and frontopolar regions, and in occipital lobes. Neuropsychological follow-up showed relatively stable difficulties of long-term memory and signs of frontal lobe dysfunction, similar to those observed in subcortical dementias. MRI subsequently showed periventricular leukoencephalopathy. The brain metabolic pattern observed in that case of metachromatic leukodystrophy was quite different from that reported in other types of dementia.- - - - - - - - - - ranking = 1keywords = encephalopathy (Clic here for more details about this article) |
2/75. Posterior cortical atrophy variants of Alzheimer's disease.Posterior cortical atrophy (PCA) was first described by Benson in 1988 and, since then, has been regarded as a variant of Alzheimer's disease. We present 2 patients with symptoms suggestive of PCA and 2 patients with apraxia as the initial manifestation. Primary motor and sensory modalities were intact. Mild memory impairment was present early in the course of the disease and gradually worsened. Parieto-occipital atrophy was evident on brain MRI. HMPAO-SPECT demonstrated parieto-occipital hypoperfusion significantly different from the temporoparietal hypoperfusion usually described in senile dementia of the Alzheimer type. These findings suggest that HMPAO-SPECT can help in diagnosing atypical variants of Alzheimer's disease. We suggest that PCA represents two clinically related behavioral phenotypes: PCA with predominantly apraxia manifestations and PCA with predominantly visuospatial disturbances. Copyrightz1999S.KargerAG,Basel- - - - - - - - - - ranking = 0.79257071434155keywords = variant (Clic here for more details about this article) |
3/75. 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 = 0.5283804762277keywords = variant (Clic here for more details about this article) |
4/75. Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures.We report clinical, neuropathologic and molecular genetic data from an individual affected by a familial alzheimer disease (AD) variant. The proband had an onset of dementia at age 29 followed by generalized seizures a year later. He died at age 40. Neuropathologically, he had severe brain atrophy and characteristic histopathologic lesions of AD. Three additional neuropathologic features need to be emphasized: 1) severe deposition of Abeta in the form of diffuse deposits in the cerebral and cerebellar cortices, 2) numerous Abeta deposits in the subcortical white matter and in the centrum semiovale, and 3) numerous ectopic neurons, often containing tau-immunopositive neurofibrillary tangles, in the white maner of the frontal and temporal lobes. A molecular genetic analysis of dna extracted from brain tissue of the proband revealed a S169L mutation in the Presenilin 1 (PSEN1) gene. The importance of this case lies in the presence of ectopic neurons in the white matter, early-onset seizures, and a PSEN1 mutation. We hypothesize that the PSEN1 mutation may have a causal relationship with an abnormality in neuronal development.- - - - - - - - - - ranking = 0.13209511905693keywords = variant (Clic here for more details about this article) |
5/75. Neurofibrillary changes following childhood lead encephalopathy.This report details the findings in a patient who survived severe lead encephalopathy at age 2 1/4 years, to die 42 years later in a state of severe mental deterioration. The brain revealed diffuse cortical atrophy, most severe in the temporal lobes, followed by hippocampi, amygdaloid nuclei and frontal cortex. Numerous pyramidal cells of the forebrain grisea contained Alzheimer's neurofibrillary tangles. The remaining pyramidal cells of the hippocampi exhibited granulo-vacuolar degeneration. Many senile plaques were present predominantly in the atrophic temporal cortex. Electron microscopic examination revealed many 800 A twisted tubules in the tangles. Atomic absorption spectrophotometry disclosed a tenfold increase of lead in frontal and temporal cortices as compared to suitable controls. The possibility that toxic levels of lead in any form could result in the formation of Alzheimer's fibrillary tangles is discussed.- - - - - - - - - - ranking = 5keywords = encephalopathy (Clic here for more details about this article) |
6/75. Molecular evidence of presenilin 1 mutation in familial early onset dementia.Early onset familial alzheimer disease (FAD) has been associated with mutations in three genes, of which presenilin 1 (PSEN1) mutations are the most frequent. We reported previously a variant form of FAD, due to deletion of exon 9 of PSEN1, with spastic paralysis and rigidity. We describe a novel PSEN1 mutation in a family of Japanese origin with six affected individuals of both genders in two generations. The disease is characterized by presenile dementia, which is preceded by spastic paraparesis and apraxia. This mutation, which is predicted to cause a missense substitution of serine for glycine, occurred at codon 266 in exon 8 of PSEN1. The mutation was not found in 200 controls and 200 sporadic AD patients. On this basis alone, it seems this mutation is pathogenic. Our findings provide a new clue to the etiology of the familial early onset dementia.- - - - - - - - - - ranking = 0.13209511905693keywords = variant (Clic here for more details about this article) |
7/75. presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.The authors report unusual presentations of members of an Irish family with familial AD due to an E280G mutation in exon 8 of presenilin-1. One had spastic paraparesis and white matter abnormalities on cranial MRI. A sibling had an internuclear ophthalmoplegia, spastic-ataxic quadriparesis, and "cotton-wool plaques" with amyloid angiopathy on brain biopsy. Another affected sibling also had MRI white matter abnormalities. The MRI findings may reflect an ischemic leukoencephalopathy due to amyloid angiopathy affecting meningocortical vessels.- - - - - - - - - - ranking = 1keywords = encephalopathy (Clic here for more details about this article) |
8/75. autopsy case of aluminum encephalopathy.We report the case of a 59-year-old female aluminum encephalopathy patient who had chronic renal failure and took 3.0 g hydroxy-aluminum gel per day for the control of serum phosphorus level during a 15-year period. Nine months before her death she developed disorientation, memory disturbance, emotional incontinence, general convulsions and consciousness disturbance. Neuropathologically, the brain showed nerve cell atrophy and mild loss with stromal spongiosis, proliferation of astrocytes and microglia in the cerebral cortex, basal ganglia and thalamus. Some nerve cells were stained immunohistochemically by phosphorylated neurofilament, but apparent neurofibrillary tangles were not observed. aluminum was detected in the nerve cells of the cerebral cortex by X-ray microanalysis. Despite the long-term intake of aluminum, there were no neuropathological findings of Alzheimer's disease. The findings in our case suggested that aluminum alone might not develop Alzheimer's disease.- - - - - - - - - - ranking = 5keywords = encephalopathy (Clic here for more details about this article) |
9/75. Coexistence of cadasil and Alzheimer's disease.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (cadasil) is caused by point mutations in the Notch3 gene. presenilins are proteins involved in the cleaving of both Notch and the amyloid precursor protein (APP). In cases of early onset Alzheimer's disease mutations of the presenilin genes (PSEN 1 and PSEN 2) and APP can be found. A 64 year old patient with cadasil (R169C-mutation) is reported, who, in addition to subcortical infarcts and granular osmiophilic deposits, had numerous senile plaques and neurofibrillary tangles on pathological examination. Mutations in the APP, PSEN1, and PSEN2 genes were not identified. Neuropathological findings of Alzheimer's disease may be found in cadasil patients.- - - - - - - - - - ranking = 1keywords = encephalopathy (Clic here for more details about this article) |
10/75. Diffuse lewy body disease - a clinical syndrome or a disease entity?Most clinicians and researchers still accept diffuse lewy body disease (DLBD) as a clinicopathological entity. dementia with fluctuating cognitive deficits, a parkinsonian syndrome, and visual hallucinations are the core symptoms of this proposed disease entity. From a neuropathological point of view, many examples of patients with progressive dementia showing evidence of extensive Lewy body formation in the cerebral cortex together with the occurrence of lewy bodies in substantia nigra and locus coeruleus have been identified. Confusingly, a large majority of cases showing typical features of DLBD also present with an Alzheimer pathology in the hippocampus and cerebral cortex. It is far from clear that DLBD represents a specific disease entity rather an intermediate variant between alzheimer disease and idiopathic parkinsonian syndromes. Nevertheless, from a clinical point of view it may be of importance to characterize patients with a symptomatology of DLBD because important management issues such as avoidance of severe neuroleptic sensitivity reactions, dopaminergic antiparkinsonian treatment and a beneficial response to cholinesterase inhibitors can be applied.- - - - - - - - - - ranking = 0.13209511905693keywords = variant (Clic here for more details about this article) |
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