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The Neurologic Disorders in Film
Published in Eelco F. M. Wijdicks, Neurocinema—The Sequel, 2022
The film arguably presents the phases of Alzheimer’s disease in a somewhat reversed format. The neurologist diagnoses “incipient Alzheimer’s” (now called mild cognitive impairment) when Martin suddenly loses track of an entire musical score. The inability to continue while the orchestra is playing is likely seen more often in advanced Alzheimer’s disease but is used here—I am sure—to obtain a major dramatic effect. Sudden episodes of complete derealization while looking in the mirror are another highly unusual presentation. Alzheimer’s disease is slowly progressive, but forgetting names is an early sign. The film is correct in associating name forgetting with work situations and not the more benign name forgetting in social situations. Misplacing objects and the inability to find one’s way back home are also early signs of Alzheimer’s disease. Nonetheless, early-onset Alzheimer’s disease may present with behavioral or executive dysfunction in one-third of the patients.70
Diagnosis and classification
Published in Stephen Curran, John P. Wattis, Practical Management of Dementia, 2018
In cases of early-onset Alzheimer’s disease (starting before 65 years of age), an association has been found with mutations associated with a number of genes, including those found on chromosomes 21, 14 and 1. The link with chromosome 21 is interesting, given that patients with Down’s syndrome (trisomy 21) have a much higher incidence of Alzheimer’s disease than the general population. However, these mutations account for only 30–50% of all autosomal dominant early-onset cases.11 A clear autosomal dominant pattern of inheritance is rare in cases starting after 65 years of age. Many genes have been proposed as having importance as risk factors for late-onset cases, but studies of these genes have often not been replicated. There does, however, seem to be an increased risk associated with the possession of one or more copies of the APOE e4 allele (found on chromosome 19) that codes for apolipoprotein E, variant e4. Further work has shown that APOE e4 has its predominant effect by determining when, but not if, a person develops late-onset Alzheimer’s disease.12 It seems though that possession of APOE e4 is neither necessary, nor sufficient for disease initiation.
Neurologic Disorders in Film
Published in Eelco F.M. Wijdicks, Neurocinema, 2014
Sudden episodes of complete derealization while looking in the mirror are another highly unusual presentation. Alzheimer’s disease is slowly progressive, but an early sign is name forgetting. The film is correct in associating name forgetting with work situations and not the more benign name forgetting in social situations. Misplacing objects and inability to find one’s way back home are also early signs of Alzheimer’s disease. Nonetheless, early-onset Alzheimer’s disease may present with behavior or executive dysfunction in one-third of the patients.
Posterior cortical atrophy: clinical, neuroimaging, and neuropathological features
Published in Expert Review of Neurotherapeutics, 2023
John Best, Marianne Chapleau, Gil D. Rabinovici
The approval of the anti-Aβ monoclonal antibodies Aducanumab and Lecanemab by the United States Food and Drug Administration for treatment of MCI or mild dementia due to AD represents the first approved therapies with molecular specificity for AD pathobiology [53,54]. Individuals with PCA have not generally been included in trials of disease-modifying therapies for AD, and thus the efficacy of these novel therapies is less well characterized in PCA than in typical amnestic AD. These trials have often used episodic memory testing as an inclusion criterion and measurement of clinical efficacy. With the ongoing emergence of disease-modifying therapies for Alzheimer’s disease, inclusion of individuals with PCA in these trials is of utmost importance. The Longitudinal Early-onset Alzheimer’s Disease Study (LEADS) is a multi-site, longitudinal observational study of PCA and other clinical phenotypes associated with sporadic early-onset AD [55]. LEADS aims to identify optimal clinical and biomarker measures of progression that can be used as outcome variables in future clinical trials focused on less common AD phenotypes.
Genetic analysis of Vietnamese patients with early-onset Alzheimer's disease
Published in International Journal of Neuroscience, 2022
Trang Mai Tong, Thuy Thi Hong Dao, Loc Phuoc Doan, Dat Thanh Nguyen, Quynh-Tho Thi Nguyen, Thanh-Thuy Thi Do, Kiet Dinh Truong, Minh-Duy Phan, Hoai-Nghia Nguyen, Thang Cong Tran, Hoa Giang
Early-onset Alzheimer’s disease is the form of AD with relatively clear genetic markers for molecular diagnosis. However, the mutation prevalence and spectrum of EOAD-related genes in the Vietnamese remain largely unknown, thus hinders the effort to design a cost-effective assay for detection and/or diagnostic of EOAD in this population. In this study, we aimed to provide a first genetic analysis of mutations in EOAD patients from Vietnam. We recruited a cohort of 51 Vietnamese individuals who were from 18–65 years old and had a clinical diagnosis of AD according to DSM-5 criteria. One limitation in assessment of our cohort was the lack of cerebrospinal fluid biomarker measurements. To minimize the number of atypical EOAD forms, we applied more stringent DSM-5 criteria for possible Alzheimer's disease. Specifically, we used Mini-Mental State Examination (MMSE: cut-off score is 24) as a global dementia screening combined with 5 independent function tests (word list recall, visuomotor speed, attention, language and visuoconstruction test) to determine patients with possible Alzheimer's disease. If one of the function tests revealed atypical presentation, we removed these cases from our cohort. In our study, we also added causal genes for frontotemporal dementia for better differential diagnosis.
Therapeutic efficacy of the Ginkgo special extract EGb761® within the framework of the mitochondrial cascade hypothesis of Alzheimer’s disease
Published in The World Journal of Biological Psychiatry, 2019
Walter E. Müller, Anne Eckert, Gunter P. Eckert, Heidrun Fink, Kristina Friedland, Serge Gauthier, Robert Hoerr, Ralf Ihl, Siegfried Kasper, Hans-Jürgen Möller
If or if not one or both of the two histopathological hallmarks play a causative role remained unclear for many decades. The discovery of homozygotic risk genes in most of the very rare (probably less than 1%) cases of early onset Alzheimer’s disease (EOAD), which share increased production of β-amyloid (Aβ) as one (but probably not the only one) common property led to the hypothesis of Aβ as the major causative factor not only for EOAD but also for late-onset AD (LOAD). These findings were supported by a large number of mainly preclinical data using transgenic cell and animal models finally leading to the amyloid cascade hypothesis (Hardy & Selkoe 2002), suggesting the slow accumulation of Aβ-containing plaques as the major causative pathomechanism of AD, even if neurotoxic low-molecular-weight Aβ aggregates (oligomeric Aβ) were also seen to be relevant in the later years (Selkoe 2008). To make a long story short, plaques were seen as the major bad guys and removing plaques by drugs was suggested to be the most relevant new disease-modifying strategy to treat AD.