Corticobasal degeneration is a sporadic form of tauopathy, involving the cerebral cortex and extrapyramidal motor system. A series of affected subjects was genotyped for a set of genetic markers along the tau protein gene. A specific haplotype is significantly overrepresented in patients versus controls. This haplotype is the same already reported in association with progressive supranuclear palsy. These data show that corticobasal degeneration and progressive supranuclear palsy, in addition to several clinical, pathological, and molecular features, may have the same genetic background.
Perhaps no subject has generated more debate in medicine than the diagnosis of brain death (BD). Writers, philosophers, ethicists, and physicians have focused on different aspects of BD. Nevertheless, no significant advances in the understanding of pathophysiologic mechanisms in BD have occurred over the last decade.
American Academy of Neurology (AAN) Practice Parameters defined BD as “the irreversible loss of function of the entire brain, including the brainstem” with three specific criteria: 1) unresponsiveness, 2) absent brainstem reflexes, and 3) apnea. In addition to these clinical criteria, there are important prerequisites: a) presence of clinical or neuroimaging evidence of acute CNS catastrophe severe enough to explain the condition, b) core temperature greater than 32°C (90°F), c) no drug intoxication or poisoning, and d) absence of confounding medical conditions such as severe electrolyte, acid-base, or endocrine disturbances.1
In this issue of Neurology ®, Wijdicks and Pfeifer2 offer a new look at an old condition and attempt to provide an analysis of the neuropathologic features that correlate with a clinical diagnosis of BD. They reviewed macroscopic and microscopic brain pathology for ischemic neuronal damage in 41 patients …
Neuropsychiatric symptoms are common manifestations of Alzheimer's disease (AD). A number of studies have targeted psychosis, i.e., hallucinations and delusions in AD, but few have assessed agitation/aggression in AD.To investigate the risk factors and pathological substrates associated with presence [A(+)] and absence [A(-)] of agitation/aggression (A) in autopsy-confirmed AD.Data was collected from the UDS data as of 2015 on the NACC database. Patients were stratified as intermediate (IAD) or high (HAD) pathological load of AD. Clinical diagnoses were not considered; additional pathological diagnoses were treated as variables. Analysis of data did not include a control group or corrections for multiple comparisons.1,716 patients met the eligibility criteria; 31.2% of the IAD and 47.8% of the HAD patients were A(+), indicating an association with severity of pathology (p = 0.001). Risk factors for A(+) included: age at initial visit, age at death, years of education, smoking (in females), recent cardiac events (in males), and clinical history of traumatic brain injury (TBI) (in males). A history of hypertension was not related to A(+). In terms of comorbidity, clinical diagnosis of Lewy body dementia syndrome was associated with A(+) but the association was not confirmed when pathological diagnosis based on demonstration of Lewy bodies was used as the criterion. The additional presence of phosphorylated TDP-43, but not tau pathologies, was associated with A(+)HAD. Vascular lesions, including lacunes, large arterial infarcts, and severity of atherosclerosis were negatively associated with A(+). Associated symptoms included delusions, hallucinations, and depression, but not irritability, aberrant motor behavior, sleep and night time behavioral changes, or changes in appetite and eating habits.Smoking, TBI, and phosphorylated TDP-43 are associated with A(+)AD in specific groups, respectively. A(+) is directly associated with AD pathology load and inversely with vascular lesions.
Corticobasal degeneration is a sporadic form of tauopathy, involving the cerebral cortex and extrapyramidal motor system. A series of affected subjects was genotyped for a set of genetic markers along the tau protein gene. A specific haplotype is significantly overrepresented in patients versus controls. This haplotype is the same already reported in association with progressive supranuclear palsy. These data show that corticobasal degeneration and progressive supranuclear palsy, in addition to several clinical, pathological, and molecular features, may have the same genetic background. Ann Neurol 2000;47:374–377
El V Congreso Nacional de Aridos se abrio con una interesante sesion plenaria en la que se analizo el futuro del sector en Espana. En ella participaron Jesus Ortiz Used, director general de HeidelbergCement Hispania y expresidente de la Union Europea de Productos de Aridos (UEPG), Angel Contreras, director general de Conservacion y Mantenimiento en Adif, Francisco Dieguez Lorenzo, director general del Instituto de Tecnologia de la Construccion en Cataluna (ITeC), y Cesar Luaces Frades, director general de la Federacion de Aridos (FdA), quienes aportaron su punto de vista sobre los retos que debera afrontar esta industria en los proximos anos.
We present a 47‐year‐old woman with a 10‐year disease course consisting of episodic confusion, aphasia, psychosis, depression, migrainous headaches and seizures. There was mild elevation of protein levels in the cerebrospinal fluid, progressive cerebral atrophy, and numerous small T1 hypointensities appearing as central “holes” in the corpus callosum on magnetic resonance imaging. She eventually expired due to status epilepticus and subsequent significant respiratory complications. In the central nervous system, there was generalized brain atrophy, and patchy labeling of blood vessels by antibodies to complement component 4d (C4d) and membrane attack complex. Innumerable small patches with loss of cell bodies (neurons and glial cells in gray matter and glial cells in white matter) and demyelination were scattered throughout the brain and spinal cord. There was no cavitation and the passing axons were mostly preserved. Large solid calcified foci were present predominantly in the pons along with disseminated focal calcification involving neuron cell bodies, neurites, and capillaries. Patchy labeling of glial cells and linear structures suggestive of myelin sheaths with C4d antibodies was observed while immunostains for SV40, tau, β‐amyloid, alpha synuclein, p62, and trans‐activation response DNA‐binding protein 43 kDa were negative. Whole‐exome sequencing did not reveal any clinically significant variants. Although the radiological findings are suggestive of Susacʼs syndrome (a rare condition characterized by encephalopathy, hearing loss, and branch retinal artery occlusion), in the absence of audiovisual manifestations, a definitive diagnosis cannot be rendered and therefore, this case may be representing a new entity. Further reports of similar cases are needed for clarification.
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