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  • 1
    In: Genes, MDPI AG, Vol. 12, No. 12 ( 2021-12-07), p. 1955-
    Abstract: Biallelic mutations in the high-temperature requirement A serine peptidase 1 (HTRA1) gene are known to cause an extremely rare cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), which belongs to the group of hereditary cerebral small vessel diseases and is mainly observed in the Japanese population. Even though this pathology is inherited in an autosomal recessive manner, recent studies have described symptomatic carriers with heterozygous HTRA1 mutations who have milder symptoms than patients with biallelic HTRA1 mutations. We present the case of a Lithuanian male patient who had a stroke at the age of 36, experienced several transient ischemic attacks, and developed an early onset, progressing dementia. These clinical symptoms were associated with extensive leukoencephalopathy, lacunar infarcts, and microbleeds based on brain magnetic resonance imaging (MRI). A novel heterozygous in-frame HTRA1 gene deletion (NM_002775.5:c.533_535del; NP_002766.1:p.(Lys178del)) was identified by next generation sequencing. The variant was consistent with the patient’s phenotype, which could not be explained by alternative causes, appeared highly deleterious after in silico analysis, and was not reported in the medical literature or population databases to date.
    Type of Medium: Online Resource
    ISSN: 2073-4425
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2527218-4
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  • 2
    Online Resource
    Online Resource
    International Scientific Information, Inc. ; 2023
    In:  Medical Science Monitor Vol. 29 ( 2023-05-15)
    In: Medical Science Monitor, International Scientific Information, Inc., Vol. 29 ( 2023-05-15)
    Type of Medium: Online Resource
    ISSN: 1643-3750
    Language: English
    Publisher: International Scientific Information, Inc.
    Publication Date: 2023
    detail.hit.zdb_id: 2060401-4
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  • 3
    Online Resource
    Online Resource
    IOS Press ; 2023
    In:  Journal of Alzheimer's Disease Vol. 94, No. 3 ( 2023-08-01), p. 1169-1178
    In: Journal of Alzheimer's Disease, IOS Press, Vol. 94, No. 3 ( 2023-08-01), p. 1169-1178
    Abstract: Background: Olfactory dysfunction is an early symptom of Alzheimer’s disease (AD). However, olfactory tests are rarely performed in clinical practice because their diagnostic efficacy in detecting early AD is unclear. Objective: To investigate odor discrimination in patients with early AD and the efficacy of olfactory discrimination tests in differentiating these patients from subjects with normal cognition (CN). Methods: Thirty patients each with mild dementia due to AD (MD-AD) and mild cognitive impairment due to AD (MCI-AD) and 30 older subjects with CN were enrolled. All participants underwent cognitive examinations (CDR, MMSE, ADAS-Cog 13, and verbal fluency) and odor discrimination tests (Sniffin’ Sticks test, Burghart®, Germany). Results: The MD-AD group achieved significantly worse scores on the olfactory discrimination test than the MCI-AD group, and the MCI-AD group achieved significantly worse results than the CN group (p  〈  0.05). A cut-off score of≤10 had a diagnostic accuracy of 94.44% (95% CI, 87.51–98.17%) in differentiating patients with MCI-AD/MD-AD from subjects with CN and of 91.67% (95% CI, 81.61–97.24%) in differentiating those with MCI-AD from subjects with CN. Our multinomial logistic regression model with demographic data and ADAS-Cog 13 scores as predictor variables correctly classified 82.2% of the cases (CN, 93.3%; MC-AD, 70%; MD-AD, 83.3%); on adding the olfactory discrimination score to the model, the percentage increased to 92.2% (CN, 96.7%; MCI-AD, 86.7%; MD-AD, 93.3%). Conclusion: Odor discrimination is impaired in cases of early AD and continues to deteriorate as the disease progresses. The olfactory discrimination test showed good diagnostic efficacy in detecting early AD.
    Type of Medium: Online Resource
    ISSN: 1387-2877 , 1875-8908
    Language: Unknown
    Publisher: IOS Press
    Publication Date: 2023
    detail.hit.zdb_id: 2070772-1
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  • 4
    Online Resource
    Online Resource
    Frontiers Media SA ; 2023
    In:  Frontiers in Neurology Vol. 14 ( 2023-6-2)
    In: Frontiers in Neurology, Frontiers Media SA, Vol. 14 ( 2023-6-2)
    Abstract: Olfaction is impaired in Alzheimer’s disease (AD). However, olfactory memory has rarely been examined. As the pathogenesis of AD remains largely unknown, collecting more data regarding the occurrence and progression of its symptoms would help gain more insight into the disease. Objective To investigate olfactory memory and its relationship with verbal memory and other clinical features in patients with early-stage AD. Methods Three groups of participants were enrolled in this study: patients with mild dementia due to AD (MD-AD, N  = 30), patients with mild cognitive impairment due to AD (MCI-AD, N  = 30), and cognitively normal older participants (CN, N  = 30). All participants underwent cognitive evaluation (Clinical Dementia Rating scale, Mini Mental State Examination, Alzheimer’s Disease Assessment Scale–Cognitive Subscale, delayed verbal recall, and verbal fluency tests) and assessment of olfactory immediate and delayed recognition memory. Results Olfactory immediate and delayed recognition memory scores were significantly lower in the MD-AD group than in the MCI-AD and CN groups. The MCI-AD and CN groups did not differ significantly [in both cases, Kruskal–Wallis test, p   & lt; 0.05; post hoc analysis revealed significant differences between the MD-AD and MCI-AD groups and between the MD-AD and CN groups ( p   & lt; 0.05), and no significant difference between the MCI-AD and CN groups ( p   & gt; 0.05)]. Verbal immediate recall, delayed recall after 5 min, and delayed recall after 30 min scores were significantly worse in the MD-AD and MCI-AD groups than in the CN group. MD-AD and MCI-AD groups did not differ significantly [in all cases Kruskal–Wallis test, p   & lt; 0.05; post hoc analysis revealed significant differences between MD-AD and CN groups, and MCI-AD and CN groups ( p   & lt; 0.05) and no significant difference between MD-AD and MCI-AD groups ( p   & gt; 0.05)]. Duration of AD symptoms was a strong predictor of both immediate and delayed olfactory recognition memory scores. Conclusion Olfactory memory impairment was observed in patients with AD. The changes progress during the course of the disease. However, unlike verbal memory, olfactory memory is not significantly impaired in the prodromal stage of AD.
    Type of Medium: Online Resource
    ISSN: 1664-2295
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2564214-5
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  • 5
    Online Resource
    Online Resource
    International Scientific Information, Inc. ; 2015
    In:  Medical Science Monitor Vol. 21 ( 2015), p. 1920-1927
    In: Medical Science Monitor, International Scientific Information, Inc., Vol. 21 ( 2015), p. 1920-1927
    Type of Medium: Online Resource
    ISSN: 1643-3750
    Language: English
    Publisher: International Scientific Information, Inc.
    Publication Date: 2015
    detail.hit.zdb_id: 2060401-4
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  • 6
    Online Resource
    Online Resource
    Wiley ; 2022
    In:  Alzheimer's & Dementia Vol. 18, No. S7 ( 2022-12)
    In: Alzheimer's & Dementia, Wiley, Vol. 18, No. S7 ( 2022-12)
    Abstract: Reliable markers are essential in order to achieve accurate diagnosis in the early stages of Alzheimer’s disease (AD). Olfactory impairment has been identified as a possible non‐invasive biomarker of AD. Odor identification tasks are most commonly used for measuring olfactory abilities. However, odor identification is associated to verbal abilities and cultural context. The aim of this study was to determine whether odor discrimination could be a valid marker of early AD. Method 65 participants were enrolled in the study. 26 patients with mild cognitive impairment due to AD (MCI‐AD), 26 patients with mild dementia due to AD (MD‐AD) and 13 cognitively normal elderly subjects (CN). All participants underwent cognitive examination (MMSE, CDR, ADAS‐Cog 13, fluency tests) and olfactory function assessment (Burghart Sniffin’ Sticks odor identification and odor discrimination tests). Result MD‐AD and MCI‐AD subjects performed significantly worse than CN subjects in both odor identification (mean correct responses ± SD was 6.77±1.91; 9.08±2.30; 13.31±1.55 respectively; p 〈 0.001) and odor discrimination (mean correct responses ± SD was 6.27±1.66; 8.19±1.65; 12.92±1.71 respectively; p 〈 0.001) tests. MD‐AD subjects performed significantly worse than MCI‐AD subjects in both odor identification (p 〈 0.05) and odor discrimination (p 〈 0.001) tests. Both odor identification and odor discrimination tests had AUC 〉 0.9 on ROC analysis for differentiating MCI‐AD subjects from CN subjects (AUC 0.938 and 0.982) and for differentiating MD‐AD subjects from CN subjects (AUC 0.99 for both). Neither odor identification, nor odor discrimination test reached AUC 〉 0.8 on ROC analysis for differentiating MCI‐AD from MD‐AD subjects (AUC 0.777 and 0.793). Odor identification differentiated MCI‐AD from CN subjects with sensitivity of 69% and specificity of 100% at cut‐off score of ≤10 correct responses. Odor discrimination differentiated MCI‐AD from CN subjects with sensitivity of 77% and specificity of 100% at cut‐off score of ≤9 correct responses. Conclusion The study confirmed that tests for olfactory dysfunction can reliably differentiate patients with mild cognitive impairment due to AD from cognitively normal subjects. Both odor identification and discrimination are reliable markers for identification of patients with early Alzheimer’s disease.
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2201940-6
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  • 7
    Online Resource
    Online Resource
    Springer Science and Business Media LLC ; 2023
    In:  Scientific Reports Vol. 13, No. 1 ( 2023-04-13)
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 13, No. 1 ( 2023-04-13)
    Abstract: Odor identification (OI) is impaired in the early stages of Alzheimer’s disease (AD). However, data regarding the diagnostic properties of OI tests are lacking, preventing their clinical use. We aimed to explore OI and determine the accuracy of OI testing in screening for patients with early AD. In total, 30 participants with mild cognitive impairment due to AD (MCI-AD), 30 with mild dementia due to AD (MD-AD), and 30 cognitively normal elderly participants (CN) were enrolled, and cognitive examination (CDR, MMSE, ADAS-Cog 13, and verbal fluency tests) and assessment of OI (Burghart Sniffin’ Sticks odor identification test) were performed. MCI-AD patients scored significantly worse in OI than CN participants, and MD-AD patients had worse OI scores than MCI-AD patients. The ratio of OI to ADAS-Cog 13 score had good diagnostic accuracy in differentiating AD patients from CN participants and in differentiating MCI-AD patients from CN participants. Substitution of ADAS-Cog 13 score with the ratio of OI to ADAS-Cog 13 score in a multinomial regression model improved the classification accuracy, especially of MCI-AD cases. Our results confirmed that OI is impaired during the prodromal stage of AD. OI testing has a good diagnostic quality and can improve the accuracy of screening for early-stage AD.
    Type of Medium: Online Resource
    ISSN: 2045-2322
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 2615211-3
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  • 8
    In: The Surgery Journal, Georg Thieme Verlag KG, Vol. 02, No. 03 ( 2016-07), p. e83-e88
    Abstract: The fox tapeworm Echinococcus multilocularis causes human alveolar echinococcosis, commonly affecting the liver. However, in ∼1% of cases, systematic spread of the disease involves the brain as well. A patient had a 6-year history of liver and lung alveolar echinococcosis that was considered not suitable for surgery, and treatment with albendazole was introduced. After the appearance of neurologic disturbances, an intracranial mass lesion was demonstrated by radiologic imaging. The lesion was surgically removed, and histologic analysis revealed metacestode tissue of E. multilocularis. Despite the surgical resection of the lesion, the patient died of progression of systemic alveolar echinococcosis. The authors highly recommend implementing neurologic monitoring to the follow-up algorithm for patients with systemically disseminated alveolar echinococcosis. When neurologic symptoms occur, radiologic imaging of the brain should be obtained immediately. Surgery should be considered for all intracranial echinococcal lesions, unless the lesion is located in the eloquent brain area.
    Type of Medium: Online Resource
    ISSN: 2378-5128 , 2378-5136
    Language: English
    Publisher: Georg Thieme Verlag KG
    Publication Date: 2016
    detail.hit.zdb_id: 2864275-2
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