Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Frontotemporal dementia is a progressive dementing illness characterized clinically by personality change, disinhibition, and apathy. Neuropathologically, neuronal cell loss, astrogliosis, and microvacuolation are present in the superficial frontotemporal cortical layers, with variable involvement of subcortical and limbic structures. The clinical picture and anatomical distribution of the degenerative changes, as well as motor neuron involvement, differentiate four neuropathological groups: 1) frontal lobe type, 2) thalamostriatal type, 3) motor neuron type, and 4) asymmetrical type. The authors review the results of four large postmortem studies with a special emphasis on cliniconeuropathological correlation.
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PMID:Frontotemporal dementia: a clinicopathological review of four postmortem studies. 884 92

Frontotemporal dementia is increasingly recognised as an important cause of early-onset dementia and is considered to be the second commonest neurodegenerative dementia after Alzheimer's disease. We describe the cognitive, behavioural profile and neuroimaging characteristics of 6 patients with frontal variant of Frontotemporal dementia that were evaluated at the cognitive behavioural clinic at this tertiary referral teaching hospital. All patients underwent clinical, neuropsychological, structural/functional neuroimaging, and laboratory evaluations. The male to female ratio was 1:1; mean age of onset was 54 years, and the mean duration of symptoms were 30 months. The mean scores for Addenbrooke's cognitive examination, Frontal Assessment Battery, and Mini-Mental State Examination were 70.5, 6.33 and 23.6 respectively. The mean VLOM ratio was 2.04. MRI revealed significant asymmetrical regional frontal/temporal atrophy supplemented by the evidence of circumscribed hypoperfusion in SPECT imaging. We conclude that a combination of behavioural and cognitive assessment using short bedside tests, along with structural and functional neuroimaging does facilitate early identification, and increase the diagnostic specificity of Frontotemporal dementia.
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PMID:Frontotemporal dementia in Oman: cognitive behavioural profile and neuroimaging characteristics; a prospective hospital-based study. 1754 47

Frontotemporal dementia (FTD) is a heterogeneous disease both clinically and pathologically. Genetic mutation in microtubule-associated protein tau (MAPT) is the most common cause of FTD, and the phenotype is related to the mutation location. However, the phenotype and genotype correlation varies somewhat among different cohorts and ethnicities. Whole-genome next-generation sequencing (NGS) was carried out for 1351 patients with dementia at Peking Union Medical College Hospital. MAPT variations classified as pathogenic and of uncertain significance were identified. Demographic information, clinical presentations, and neuroimaging were collected, and the phenotype-genotype correlation was analyzed with a concurrent literature review. Twenty-four patients were enrolled; 8 patients carrying the D177V mutation are discussed separately. The average onset age was young, and most of them had a positive family history. Cognitive dysfunction, behavior, and personality changes as well as aphasia were the most common presentations. Most structural MRIs showed asymmetrical atrophy of the temporal lobe, with/without similar changes in the frontal lobe. L266V carriers presented with youngest onset typical behavior variant FTD or aphasia; P301L carriers presented with behavior variant FTD or aphasia. Functional MRI and molecular imaging also showed that the involved areas were similar to those with structural atrophy. D296N carriers presented atypical parkinsonism and cognitive dysfunction at older ages. Eight D177V carriers had extraordinarily different manifestations. The clinical phenotype of most of them was not FTD, though cerebral vascular lesions were obvious in some of them. MAPT mutation is rare in Chinese dementia patients. The phenotype and genotype correlation is specific and overlaps. The D177V mutation is possibly not directly pathogenic in our cohort. Some of the variants might increase the genetic risk of neurodegenerative diseases.
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PMID:Phenotype Heterogeneity and Genotype Correlation of MAPT Mutations in a Chinese PUMCH Cohort. 3300 6