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Toft, Anders; Roos, Peter; Jääskeläinen, Olli; Musaeus, Christian Sandøe; Henriksen, Emil Elbæk; Johannsen, Peter; Nielsen, Troels Tolstrup; Herukka, Sanna-Kaisa; Hviid Simonsen, Anja; Nielsen, Jørgen Erik
doi: 10.1159/000513877
Altieri, Marta; Fratino, Mariangela; Maestrini, Ilaria; Dionisi, Claudia; Annecca, Rosanna; Vicenzini, Edoardo; Di Piero, Vittorio
doi: 10.1159/000514674pmid: 33735893
Introduction: Since cognitive impairment (CI) occurs on average in 45% of multiple sclerosis (MS) patients, the early detection of patients “at risk” of CI is important in order to promptly apply preventive strategies. The aim of the present study was to investigate the prevalence and risk factors for CI in MS patients using the Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) as a screening test. Methods: During the 1-year period, CI was evaluated in 82 consecutives mild relapsing-remitting MS (EDSS ≤ 3.5) patients. Patients with 1 altered BICAMS test were defined “at risk.” Both “at risk” and CI patients underwent an extensive neuropsychological battery. Results: We found that: (i) 23% had CI, (ii), 25% were “at risk” of CI, and (iii) 76% of the “at risk” patients were already impaired at the NP assessment. In particular, the Symbol Digit Modalities Test was the most compromised (70% of “at risk” and 79% of CI patients). Patients with CI had more frequently an EDSS ≥ 2.5 (p = 0.05), lower education (p = 0.05), and relapses in the last 12 months (p = 0.03). Conclusions: CI is a significant issue in MS and integration of a screening test, such as the SDMT, into routine clinical practice could be of worth to identify “at risk” patients and to promote an early therapeutic intervention.
Sobański, Michał; Zacharzewska-Gondek, Anna; Waliszewska-Prosół, Marta; Sąsiadek, Marek Jan; Zimny, Anna; Bladowska, Joanna
doi: 10.1159/000512543pmid: 33508841
Purpose: Due to the variety of clinical symptoms that occur in rare neurodegenerative diseases and difficulties in the correct diagnosis, there is a need to learn their characteristic imaging findings by using conventional MRI. That knowledge helps to determine the appropriate differential diagnosis and avoid misdiagnosis. The aim of this review is to present the typical neuroimaging signs of the selected neurodegenerative disorders and to create a practical approach to imaging findings useful in everyday clinical practice. Images: Images of progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), Creutzfeldt-Jakob disease (CJD), Wilson’s disease (WD), and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are provided to visualize and distinguish the typical features of those diseases and therefore to assist neurologists and neuroradiologists in decision-making process. Conclusions: It is important to know the characteristic MRI features of rare neurodegenerative diseases and to use them in everyday clinical practice. MRI is a valuable tool when considering the initial diagnosis because it is proven to be very useful in the differentiation of more advanced stages of the rare neurodegenerative diseases but also from other neurodegenerative disorders.
Dominguez, Jacqueline; Ng, Arlene; Yu, Jeryl; Guevarra, Anne Cristine; Daroy, Maria Luisa; Alfon, Alicia; Catindig, Joseree-Ann; Dizon, Mercedes; Santiago, Jonas; Del Moral, Maria Clarissa; Yu, Justine; Jamerlan, Angelo; Ligsay, Antonio; Bagyinszky, Eva; An, Seong Soo;
Garcia-Cifuentes, Elkin; Márquez, Isabel; Vasquez, Daniel; Aguillon, David; Borda, Miguel G.; Lopera, Francisco; Cano-Gutierrez, Carlos
doi: 10.1159/000510494pmid: 33207340
Introduction: Gait speed (GS) is a predictor of negative outcomes in older adults and in those in risk to develop cognitive impairment; as such, it has been associated with dementia. Studies in Latin-American older adults showing this association are scarce. This study aimed to evaluate the relationship between GS and dementia in a representative sample of Colombian older adults. Methods: This study is a secondary analysis from the Survey on Health, Well-Being, and Aging, SABE (from initials in Spanish: Salud, Bienestar & Envejecimiento) Colombia’s survey conducted in 2015 with a sample of 23,694 elderly adults aged 60 years or older. Results: A total of 19,470 participants from the SABE Colombia survey were available for analysis. The multivariate analysis shows that dementia was associated with slow GS (PR 2.39; CI 1.91–3.01) independently to the other variables (p < 0.001). Similarly, GS as a continuous variable shows a statistically significant association with dementia in the adjusted analysis (OR 0.06; CI 0.04–0.09; p < 0.001). Conclusion: Dementia was associated with slow GS. This finding provides evidence to include GS as a complementary parameter in the assessment of Colombian elderly adults.
Manzano-Palomo, Sagrario; Agüera-Ortiz, Luis F.; García-Caballero, Alexandre; Martínez-Raga, José; Ojea-Ortega, Tomás; Sánchez-Valle, Raquel; Antón-Jiménez, Manuel; Monge-Argilés, José A.; Ramos-García, Isabel
doi: 10.1159/000510866
Siddiqui, Tahreem Ghazal; Whitfield, Timothy; Praharaju, Sudhakar Janaki; Sadiq, Dilman; Kazmi, Hiba; Ben-Joseph, Aaron; Walker, Zuzana
doi: 10.1159/000510951pmid: 33227783
Introduction: Fifteen percent of people with mild cognitive impairment (MCI) will progress to dementia within 2 years. There is increasing focus on the evaluation of biomarkers which point towards the underlying pathology. This enables better prediction of clinical outcomes. Early diagnosis of the dementia subtype is crucial for appropriate management and accurate prognosis. The aim of this study was to compare MRI measures in stable mild cognitive impairment patients (stable-MCI), prodromal Alzheimer’s disease (pro-AD), and prodromal dementia with Lewy bodies (pro-DLB). Methods: Out of 1,814 patients assessed in Essex memory clinic between 2002 and 2017, 424 had MCI at baseline with follow-up data. All patients underwent comprehensive clinical and cognitive assessment at each assessment. MRI scans were acquired at patients’ baseline assessment, corresponding to the time of initial MCI clinical diagnosis. Patients were grouped according to their diagnosis at the end of follow-up. All baseline scans were visually rated according to established rating scales for medial temporal atrophy (MTA), global cortical atrophy (GCA), and white matter lesions (WMLs). Results: MRI scans were available for 28 pro-DLB patients and were matched against 27 pro-AD and 28 stable-MCI patients for age, sex, and education. The mean follow-up duration was 34 months for the pro-AD group, 27 months for the pro-DLB group, and 21 months for the stable-MCI group. MTA scores were significantly greater in pro-AD patients compared to pro-DLB (p = 0.047) and stable-MCI patients (p = 0.012). There was no difference on GCA or WMLs between pro-AD, pro-DLB, and stable-MCI. Conclusions: This study indicates that a simple visual rating of MTA at the stage of MCI already differs at a group level between patients that progress to AD, DLB, or continue to be stable-MCI. This could aid clinicians to differentiate between MCI patients who are likely to develop AD, versus those who might progress to DLB or remain stable.
Eldaief, Mark C.; Perez, David L.; Quimby, Megan; Hochberg, Daisy; Touroutoglou, Alexandra; Feldman Barrett, Lisa; Dickerson, Bradford C.
doi: 10.1159/000511341pmid: 33691310
Background: Although traditionally conceptualized as a language disorder, semantic variant primary progressive aphasia (svPPA) is often accompanied by significant behavioral and affective symptoms which considerably increase disease morbidity. Specifically, these neuropsychiatric symptoms are characterized by breaches in normative socioaffective function, for example, an inability to read social cues, excessive trusting of others, and decreased empathy. Our prior neuroimaging work identified 3 corticolimbic networks anchored in the amygdala, temporal pole, and frontoinsular cortex: an affiliation network, theorized to mediate social approach behavior; an aversion network, theorized to subserve the appraisal of social threat; and a perception network, theorized to mediate the detection of social cues. We hypothesized that degeneration of these networks could provide neuroanatomical substrates for socioaffective deficits in svPPA. Methods: We examined hypothesized relationships between subscores on the Social Impairment Rating Scale (SIRS) and atrophy in each of these 3 networks in a group of 16 svPPA patients (using matched cognitively normal controls as a reference). Results: Consistent with our predictions, the magnitude of atrophy in the affiliation network in svPPA patients correlated with the SIRS subscore of socioemotional detachment, while the magnitude of atrophy in the aversion network in svPPA patients correlated with the SIRS subscore of inappropriate trusting. We did not find the predicted association between perception network atrophy and the SIRS subscore of lack of attention to social cues. Conclusion: These findings highlight specific socioaffective deficits in svPPA and provide a neuroanatomical basis for these impairments by linking them to networks commonly targeted in this disorder.
Showing 1 to 10 of 16 Articles
Introduction: The potential of neurofilament light (NfL) as a blood-based biomarker is currently being investigated in autosomal dominant neurodegenerative disease. This study explores the clinical utility of serum-NfL in frontotemporal dementia due to CHMP2B mutation (FTD-3). Methods: This cross-sectional study included serum and CSF data from 38 members of the Danish FTD-3 family: 12 affected CHMP2B mutation carriers, 10 presymptomatic carriers, and 16 noncarriers. Serum-NfL levels measured by single-molecule array (Simoa) technology were tested for associations with the clinical groups and clinical parameters. Serum and CSF data were compared, and CSF/serum-albumin ratio was included as a measure of blood-brain barrier (BBB) function. Results: Serum-NfL concentrations were significantly increased in symptomatic CHMP2B mutation carriers compared to presymptomatic carriers and in both groups compared to healthy family controls. Serum-NfL levels appear to increase progressively with age in presymptomatic carriers, and this is perhaps followed by a change in trajectory when patients become symptomatic. Measurements of NfL in serum and CSF were highly correlated and fold-changes in serum and CSF between clinical groups were similar. Increase in serum-NFL levels was correlated with reduced ACE-score. Higher CSF/serum-albumin ratios were demonstrated in FTD-3 patients, but this did not affect the significant associations between serum-NfL and clinical groups. Conclusion: Serum-NfL could be utilized as an accurate surrogate marker of CSF levels to segregate symptomatic CHMP2B carriers, presymptomatic carriers, and non-carriers. The observed indication of BBB dysfunction in FTD-3 patients did not confound this use of serum-NfL. The results support the occurrence of mutation-related differences in NfL dynamics in familial FTD.
doi: 10.1159/000510106pmid: 33486486
Background: Compared to Western populations, familial frontotemporal lobar degeneration (FTLD) is rare among Asians. Progranulin (GRN) gene mutation, which is a major cause of FTLD, is likewise rare. We present a family with FTLD from the Philippines with an autosomal dominant pattern of inheritance and GRN mutation and briefly review reports of GRN mutations in Asia. Case Presentation: The proband is 66 years old with progressive nonfluent aphasia (PNFA)-corticobasal syndrome . We assessed 3 generations of her pedigree and found 11 affected relatives with heterogenous phenotypes, usually behavioral variant frontotemporal dementia (FTD) and PNFA. Neuroimaging showed atrophy and hypometabolism consistent with FTD syndromes. White matter hyperintensities were seen in affected members even in the absence of vascular risk factors. A GRN mutation R110X was found in 6 members, 3 with symptoms and 3 were asymptomatic. Plasma GRN was low (<112 ng/mL) in all mutation carriers. No mutations were found in microtubule-associated protein tau, APP, PSEN1, and PSEN2 genes, and all were APOE3. Conclusion: This is the first Filipino family with autosomal dominant FTD documented with GRN mutation. Identifying families and cohorts would contribute to therapeutic developments in an area with FTD-GRN.
Background: Behavioral and psychological symptoms of dementia (BPSD) are difficult to manage and associated with poor outcome. Objectives: The aim of this study was to reach consensus on the use of antipsychotics in patients with BPSD in Spain. Methods: A qualitative, multicenter, two-round Delphi study was carried out, with the participation of specialists involved in the care of dementia patients throughout Spain. They completed a 76-item questionnaire related to the identification of BPSD, treatment with antipsychotics, follow-up of patients, barriers for the use of atypical antipsychotics, and effects of antipsychotics on quality of life. Results: A total of 162 specialists in neurology, psychiatry, and geriatrics (61% men) with a mean (SD) age of 45.9 (10) years participated in the study. Almost all participants (96.9%) strongly agreed that atypical antipsychotics are safer and better tolerated than typical antipsychotics. There was agreement on the importance to review the indication and dose of the antipsychotic drug at least every 3 months. There was consistent high rate of agreement on the beneficial impact of atypical antipsychotics on the quality of life of patients with dementia and their caregivers. A consensus was also reached on the need of detecting BPSD in patients with dementia as it decreases the quality of life of both patients and caregivers, and the need to routinely screen for dementia in elderly patients with no previous psychiatric history in the presence of suggestive symptoms of BPSD. Finally, the participants in the study agreed that administrative barriers for the prescription of atypical antipsychotics in Spain hinder the access to this drug group and favor the prescription of typical antipsychotics. Conclusions: The participants in the study agreed that atypical antipsychotics should be preferred to typical antipsychotics in the management of BPSD. Wide consensus was reached about the importance of early identification of BPSD in persons with cognitive impairment, the use and management of atypical antipsychotic drugs and their favorable impact on patients and caregiver’s quality of life.