Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Frontotemporal dementias are the second largest degenerative dementia group after Alzheimer's disease. It is a clinical syndrome corresponding to at least three histological entities: Pick's disease, non-specific frontotemporal degeneration, frontal lobe abnormalities associated with motor neuron disease. There are four group of symptoms in the clinical description of FTD: behavioural disorder, affective symptoms, speech disorders, neurological signs. FTD is associated with primary degeneration of the frontal and temporal lobes. Histologically there was neuronal loss, microvacuolation, tau- and ubiquitin-immunoreactive inclusions. The ballooned cortical neurons and tau- and ubiquitin-immunoreactive, argyrophilic inclusions have been called Pick-type histology. There are many descriptions of association of FTD and Pick's disease with motor neuron disease and amyotrophic lateral sclerosis. Histological changes were similar to cortical ones. In this study, we described clinical characteristic features of frontotemporal dementia and difficulties in its identification. The distinctive histopathological pattern in the FTD patients and its value to differentiate frontotemporal degeneration from other degenerative dementias is discussed.
 ...
PMID:[Frontotemporal dementias]. 1097 48

The mechanisms underlying motor neuron degeneration in amyotrophic lateral sclerosis are not fully understood. Recent studies suggest that apoptosis is involved in the abnormal neural death that occurs in this devastating disease. Presenilin-1, a transmembrane protein, seems to be implicated in apoptosis. To determine whether presenilin-1 intron 8 polymorphism has an influence in the course of amyotrophic lateral sclerosis, we examined this polymorphism genotypes in a large group of patients (n = 72) with amyotrophic lateral sclerosis and in a random sample of 213 healthy individuals. The results showed a significant difference in genotype (P < 0.04) and allele (P < 0.03) distribution between patients controls. These results suggest a possible intervention of presenilin-1 in the pathogenesis of amyotrophic lateral sclerosis.
 ...
PMID:Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis. 1120 Jun 86

Disproportionate impairment of naming nouns versus verbs and the opposite pattern have been reported in cases of focal brain damage or degenerative disease, indicating that processing of nouns and verbs may rely on different brain regions. However, it has not been clear whether it is the spoken word forms or the meanings (or both) of nouns and verbs that depend on separate neural regions. We tested oral and written naming of nouns and verbs, matched in difficulty, in patients with nonfluent primary progressive aphasia (nonfluent PPA; n = 15), fluent primary progressive aphasia (fluent PPA; n = 7), and amyotrophic lateral sclerosis with frontotemporal dementia (ALS-FTD; n = 6). Patients with nonfluent PPA and ALS-FTD, both individually and as groups, were significantly more impaired on verb naming than on noun naming and significantly more impaired on oral naming than written naming. Patients with fluent PPA showed the opposite pattern for both word class and modality, significantly more impaired naming of nouns versus verbs and significantly more impaired written versus oral naming. Results indicate that separate regions of the brain are essential for access to oral and written word forms of verbs and nouns, and that these neural regions can be differentially damaged in separate forms of PPA.
 ...
PMID:Deterioration of naming nouns versus verbs in primary progressive aphasia. 1475 31

This report presents the largest series of consecutive, neuropathologically confirmed cases of frontotemporal degeneration (FTD). Prior studies have found dementia lacking distinctive histology (DLDH) to be the most common pathology underlying the clinical diagnosis of FTD. In this series of 76 cases, 29 (38%) were found to have frontotemporal lobar degeneration with motor neuron disease-type inclusions (FTLD-MND-type) or FTLD-MND (with ALS), the most common neuropathological classification in our series. Only eight (11%) were classified as Pick's disease. Several cases originally designated as DLDH could be reclassified as FTLD-MND-type based on current recommendations for classification of FTD.
 ...
PMID:Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration. 1535 90

We report the autopsy findings of a 62-year-old man who exhibited progressive FTD 10 years before the appearance of muscle weakness and wasting, and who died approximately 11 years after onset of the symptoms. Degeneration and atrophy of the frontal and temporal lobes, which contained ubiquitin-positive neuronal inclusions and dystrophic neurites, were evident. Circumscribed degeneration affecting the hippocampal CA1-subiculum border zone was also a feature. Moreover, degeneration was present in both the upper and lower motor neuron systems, the latter being more severely affected. A few lower motor neurons were found to contain the cytoplasmic inclusions characteristic of ALS (i.e. Bunina bodies and ubiquitin-positive skeins). Also of interest was the presence of pallidonigroluysian atrophy, which appeared to be responsible for the chorea-like involuntary movements that developed in this patient approximately 2 months before death. The clinical and pathological features of our patient further support the idea that motor neuron disease-inclusion dementia (MND-ID), which has been classified as a pathological subgroup of FTD, is a forme fruste of ALS with dementia. In other words, if patients with MND-ID live long enough, they may develop ALS.
 ...
PMID:Is motor neuron disease-inclusion dementia a forme fruste of amyotrophic lateral sclerosis with dementia? An autopsy case further supporting the disease concept. 1619 38

Accumulating evidence suggest that frontotemporal dementia is best viewed as a clinical syndrome even though there are distinct presentations of the behavioral variety, progressive aphasia, semantic dementia, corticobasal degeneration and progressive supranuclear palsy. Similarly the pathology should be regarded as a spectrum even though histological varieties are distinguished. More than half of FTD pathology is associated with ubiquitin positive and tau negative inclusions that are common in ALS. However the majority of FTD cases do not have ALS clinically and relatively few ALS cases develop FTD. The pathological and biochemical varieties can be dichotomized as tau positive and tau negative pathology and biochemistry. The genetics of the tau positive variety is associated with tau mutations and so far the tau negative variety is not, although some are linked to chromosome-17 also. There is a corresponding clinical dichotomy combining the behavioral variety of FTD presentation with semantic dementia and usually ubiquitin positive tau negative pathology on one hand and the association of primary progressive aphasia and cortical basal degeneration/PSP syndrome with tau positive pathology on the other. The overlap between them is too great to establish two separate diseases.
 ...
PMID:Frontotemporal dementia: one disease, or many?: probably one, possibly two. 1631 53

The pathomorphological correlate of Kennedy's disease (KD) is a degeneration of spinal and bulbar alpha-motor neurons. The disease is caused by a CAG repeat expansion in the first exon of the X-chromosomal androgene receptor gene. Contrary to the common belief that cognitive disorders in motor neuron diseases (MND) are either rare or only mild, there is now an increasing number of case reports on dementia in amyotrophic lateral sclerosis (ALS). In ALS, dementia of the frontal lobe type (frontotemporal dementia, FTD) seems to be the characteristic pattern. However, in KD cognitive dysfunction has not been studied systematically. Here we present a case with clinical characteristics of FTD in a patient with genetically confirmed KD. It remains speculative whether there is an association between KD and FTD comparable to a genetic linkage between ALS and FTD, which has been proposed in recent years. However, we suggest that cognitive dysfunction may be more common in KD than reported until today.
 ...
PMID:Dementia of frontal lobe type in Kennedy's disease. 1631 30

Frontotemporal dementia (clinical Pick's disease) is a relatively common, but underdiagnosed degenerative disease in the presenium. Estimated prevalence ranges from 6-12% of dementias. The behavioural, aphasic and extrapyramidal presentations are labeled FTD-behavioural variant, Primary Progressive Aphasia (PPA) and Corticobasal Degeneration/Progressive Supranuclear Palsy (CBD/PSP). The diagnostic features and course of each are described and their overlap in the evolution of the illness is emphasized. The neuropathology ranges from the most common tau negative ubiquitin positive amyotrophic lateral sclerosis (ALS) type inclusions to the tau positive classical Pick bodies and more or less distinct changes of PSP and CBD. The genetics of the relatively frequent tau mutations and the yet unsolved problem of tau negative families are discussed. The tau negative cases tend to be associated with the behavioural presentation and semantic dementia and the tau positive ones with PPA and the CBD/PSP syndrome. However the overlap is too great to split the disease. A glossary to navigate the proliferating terminology is included.
 ...
PMID:Progress in clinical neurosciences: Frontotemporal dementia-pick's disease. 1673 22

Erythropoietin (EPO) and its specific receptor (EPOR) have been proposed to act as an endogenous system protecting against neuronal injury and neurodegeneration. We measured EPO in cerebrospinal fluid (CSF) of patients with neurodegenerative diseases, and tested for a correlation with an established biomarker of neuro-axonal damage, tau protein. Patients with Alzheimer's disease (AD, N=40), vascular dementia (VD, N=19), frontotemporal lobe dementia (FTLD, N=5), ALS (N=30) and controls (N=49) were included. Cerebrospinal fluid and serum levels of EPO and tau were measured using ELISA techniques. We found CSF EPO in ALS to be lower than in controls (p=0.04), while no difference between patients with AD, VD, FTLD and controls was detectable. CSF EPO correlated with age (p<0.001) as well as with tau protein (p=0.002) in all patients pooled. In contrast to the upregulation of the EPO/EPOR system in brain tissue upon various conditions of neuronal distress, CSF EPO concentrations in neurodegenerative disease were found in the same range or even reduced as compared to controls. This may be due to a relative deficiency of endogenous CNS EPO in these conditions and/or to a more efficient extraction of free EPO molecules from brain intercellular fluid by increased numbers of EPOR.
 ...
PMID:Erythropoietin in the cerebrospinal fluid in neurodegenerative diseases. 1681 30

Cognitive impairment in nondemented ALS patients has been demonstrated, although its incidence remains to be determined. FTD is the most frequently form of dementia in ALS. The clinical profile of patients with dementia or mild cognitive deficit evokes neuropsychological deficits and behavioural changes resulting from executive dysfunction. The psychometric evaluation, centred on executive disturbances, goes with behavioural scales in order to accurately appreciate the repercussion of cognitive and behavioural changes on daily life.
 ...
PMID:[Amyotrophic lateral sclerosis: cognitive and behavioral evaluation]. 1712 3


1 2 3 4 5 6 7 8 9 10 Next >>