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)

Corticobasal syndrome is characterized by cortical dysfunction and L-dopa-unresponsive Parkinsonism, with asymmetrical onset of clinical presentation and evidence of atrophy and/or hypometabolism at neuroimaging. Recently, the heterogeneous pathologic substrate of corticobasal syndrome has been further expanded to include cases with pathologic diagnosis of frontotemporal lobar degeneration with ubiquitin/TDP-43 (TAR DNA binding protein 43)-positive inclusions associated with progranulin (PGRN) mutations. We report a family in which several individuals have been affected with a dementia/movement disorder phenotype. The proband presented at age 45 with spontaneous left arm levitation, ideational apraxia, asymmetric parkinsonism, and dystonia. Subsequently, he developed limb-kinetic apraxia, left-side hemineglect, memory loss, and executive dysfunction. Magnetic resonance imaging and [F]fluorodeoxyglucose-positron emission tomography studies revealed severe cerebral cortical atrophy and hypometabolism, which were significantly more pronounced in the parietal lobes (right > left). Neuropathologic examination displayed the highest degree of degeneration and ubiquitin/TDP-43 pathology in the proband's parietal areas. Genetic analysis revealed the presence of the c.26C>A PGRN mutation in 1 allele. This mutation has been reported in association with hereditary-dysphasic-disinhibition-dementia, Alzheimer-like dementia, progressive supranuclear palsy, and primary progressive aphasia. The peculiar findings observed in this patient indicate that the parietal lobe may represent the most vulnerable anatomical area in some of the PGRN-associated frontotemporal lobar degeneration with ubiquitin/TDP-43-positive inclusion cases.
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PMID:Corticobasal syndrome associated with the A9D Progranulin mutation. 1791 83

The aspects of various neurodegenerative diseases can be observed overlapping with each other during autopsy. Corticobasal degeneration (CBD) is a rare neurodegenerative disease, whereas Alzheimer disease (AD) is the most common cause of dementia. In this article, we present the combination of CBD and AD in an autopsy case. The patient, an 82-year-old right-handed woman developed asymmetrical parkinsonism, visuospatial dysfunction and memory loss, as well as subsequent non-influent aphasia over the past 10 years. The autopsy revealed characteristic CBD-related pathology, ballooned neurons, globose tangles and astrocytic plaques, mainly in the frontal cortex and basal ganglia. The Alzheimer-related pathology was also present concomitantly. Senile plagues deposited diffusively throughout the hippocampus and neocortices. Neurofibrillary tangles (NFTs) were more confined to the hippocampus. The autopsy demonstrated pathological overlap of CBD and AD, which therefore explained the clinical early development of dementia and parkinsonism. We should suspect the concurrence of various neurodegenerative disorders in any case with atypical or complex clinical manifestations. Tau pathology is a prominent feature in both CBD and AD. Such a combination would be a clue for the pathogenesis of various tauopathies.
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PMID:The overlap of corticobasal degeneration and Alzheimer changes: an autopsy case. 1932 89

Acute confusion and memory loss associated with asymmetrical mesiotemporal hyperintensity on T2-weighted MRI are characteristic of herpes encephalitis. The authors report the case of a patient with these symptoms and MRI presentation who had neurosyphilis. Recently clinical and imaging patterns usually associated with herpes simplex encephalitis have been seen in patients with neurosyphilis. Because syphilis is "The Great Pretender" not only clinically but also in imaging and because its numbers are rising, it must be sought as a differential diagnosis.
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PMID:Neurosyphilis versus Herpes Encephalitis in a Patient with Confusion, Memory Loss, and T2-Weighted Mesiotemporal Hyperintensity. 2256 86