China
Africa
Explore chapters and articles related to this topic
Of brain and bone: The unusual case of Dr. A
Published in Howard J. Rosen, Robert W. Levenson, Neurocase, 2020
J. Narvid, M. L. Gorno-Tempini, A. Slavotinek, S. J. DeArmond, Y. H. Cha, B. L. Miller, K. Rankin
In summary, neuropathological investigations identified cerebral cortical atrophy in an asymmetric pattern, most convincingly in the frontal and temporal lobes. Numerous neurons elaborated tau protein, especially within the hippocampus and temporal lobe. Additionally, scattered tau positive astrocytes were found cerebral cortex and subcortical white matter. These patterns are most consistent with a diagnosis of Pick’s disease.
Positron Emission Tomography and Neuropsychological Studies in Dementia
Published in Robert E. Becker, Ezio Giacobini, Alzheimer Disease, 2020
Randolph W. Parks, Robert E. Becker, Kathryn L. Dodrill, Bettina A. Bennett, David J. Crockett, Trevor A. Hurwitz, Patrick L. McGeer, Edith G. McGeer
In an advanced stage of Pick’s Disease (PD), patients show impaired memory, disorientation, and other cognitive deficits. Histopathology shows grossly swollen neurons that contain classic “Pick” bodies as well as circumscribed frontal atrophy (McGeachie, Fleming & Sharer, 1979). In a case study of PD confirmed by necropsy, PET scan confirmed reduced frontal metabolism when compared to normal controls (Kamo et al., 1987). Furthermore, the PD case was distinct from AD cases in showing a much greater decrease of regional metabolism in the frontal than in the temporal or parietal lobes.
Diseases of the Nervous System
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
In Pick’s disease the clinical patterns are loss of memory and progressive dementia. The brain of affected individuals shows diffuse cortical atrophy which is often very severe inone or both frontal or temporal lobes (Plate 3). There is a moderate to extensive loss of neurons in affected areas and usually intense gliosis. Some of the neurons are greatly distended and large cytoplasmic inclusions replace the nuclei. The accumulation of these lipoprotein particles probably represents a metabolic defect related to the disease. There are changes in the presence of trace elements in the impaired neurons.197
Posterior cortical atrophy: clinical, neuroimaging, and neuropathological features
Published in Expert Review of Neurotherapeutics, 2023
John Best, Marianne Chapleau, Gil D. Rabinovici
The purpose of this review is to provide readers with an overview of Posterior Cortical Atrophy syndrome, including clinical, imaging, pathological, and genetic features, and treatments. Posterior cortical atrophy (PCA) is a term first introduced by Frank Benson and colleagues in 1988 [1]. Benson’s original case series described five patients with early and prominent visual dysfunction, including alexia and visual agnosia. The patients all developed progressive visuospatial and navigational dysfunction (environmental agnosia) with preserved visual acuity. Eventually, most parietal lobe functions were affected, though memory was notably spared until late disease stages. Atrophy of posterior association cortices was noted on computed tomography (CT) or magnetic resonance imaging (MRI). Benson hypothesized that this newly described dementia syndrome represented an atypical presentation of Alzheimer’s disease, Pick’s disease, or possibly a novel clinicopathological entity.
Mixed neuropathology in frontotemporal lobar degeneration
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2020
Catherine Pennington, Luca Marini, Elizabeth Coulthard, Seth Love
Tauopathies are frequently seen as co-existent or incidental pathologies in patients with other forms of neurodegeneration (23,24) but the incidence of mixed pathology in those with a primary tauopathy is understudied. An autopsy series of 33 people with neuropathologically diagnosed CBD found coexisting Alzheimer’s spectrum pathology in 3 cases (25). An archival review of 66 cases of Pick’s disease identified proteinopathy consistent with low or intermediate level probability of AD in 3 cases, and occasional alpha-synuclein immunopositivity (26). In our cohort, most of those with FTLD-tau had no other neuropathology present. Why mixed neuropathology is less frequent in FTLD-tau than FTLD-TDP-43 is unclear; this discrepancy was not explained by age at death, or by an excess of any one particular neuropathology with FTLD-TDP.
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry
Published in The World Journal of Biological Psychiatry, 2019
Olivier Bonnot, Clarissa S. Gama, Eugen Mengel, Mercè Pineda, Marie T. Vanier, Louise Watson, Marie Watissée, Barbara Schwierin, Marc C. Patterson
Niemann-Pick disease type C (NP-C) is a rare, pan-ethnic metabolic disease caused by autosomal recessive inheritance of mutations in the NPC1 gene or the NPC2 gene (Carstea et al. 1997; Naureckiene et al. 2000), and has been estimated to affect 1 in 89,000 pregnancies (Wassif et al. 2016). NP-C is characterised by progressive neurodegeneration and early mortality (Wraith et al. 2009; Vanier 2010; Walterfang et al. 2012; Imrie et al. 2015). It is one of a number of inborn errors of metabolism that are associated with psychiatric symptoms, and which should be considered by clinical psychiatrists as possible causes of organic psychiatric disease (Klünemann et al. 2012; Bonnot et al. 2014; Nia 2014).