BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder caused by mutations in the NOTCH3 gene, located on chromosome 19p13. NOTCH3 encodes a transmembrane receptor which plays a role in cellular differentiation and cell cycle regulation. CASE REPORT: A 71-year-old female showing headache and memory impairment, familial history of stroke and having a missense mutation from proline to serine at codon 167 in the exon 4 on NOTCH3 gene. Five family members revealed the same mutation (c.499C>T), who presented migrainous headache and stroke. In this study, we have uncovered a novel NOTCH3 mutation at the nucleotide position 499 (c.499C>T; p.P167S) in a family with CADASIL. CONCLUSIONS: We suggested a missense mutation of proline to serine at codon 167 in exon 4 of the NOTCH3 gene, which resulted in the substitution of cytosine to thymine (c.499C>T) resulting migraine, stroke and vascular cognitive impairment.
Aged ; CADASIL* ; Cell Cycle ; Codon ; Cognition Disorders ; Cytosine ; Exons ; Female ; Headache ; Humans ; Memory ; Migraine Disorders ; Mutation, Missense* ; Proline ; Serine ; Stroke ; Thymine

Objective: This study aimed to investigate the association with the functioning of instrumental-activities of daily living (I-ADL) and future development of Alzheimer’s disease (AD) in persons with mild cognitive impairment (MCI). Methods: A total of 116 patients with MCI, aged 65 years to 91 years (male: 88, female: 91 at first visit), from a large hospital cen-ter in Korea, were identified. Those who developed at least two consecutive 1-year follow up were diagnosed according to the DSM-5criteria. Results: When the same level of Mini Mental State Examination (MMSE) scores was given, it could be seen that the probability of AD transfer was predicted differently due to complex changes in I-ADL scores. Specifically, it was observed that with an MMSEscore of approximately 23.9 points, as the I-ADL points increase, the odds of transfer also increase approximately 6.1% (I-ADL low: 8.5 points) to 23.5% (I-ADL high: 31.4), therefore odds of transfer are 17.4% higher than I-ADL low condition. Conclusion The study suggested that even though cognitive problems were not observed due to high MMSE scores, severe damage to I-ADL could lead to AD. Applications may be limited, but such cases may require careful monitoring at the site.

Objective: This study aimed to investigate the association with the functioning of instrumental-activities of daily living (I-ADL) and future development of Alzheimer’s disease (AD) in persons with mild cognitive impairment (MCI). Methods: A total of 116 patients with MCI, aged 65 years to 91 years (male: 88, female: 91 at first visit), from a large hospital cen-ter in Korea, were identified. Those who developed at least two consecutive 1-year follow up were diagnosed according to the DSM-5criteria. Results: When the same level of Mini Mental State Examination (MMSE) scores was given, it could be seen that the probability of AD transfer was predicted differently due to complex changes in I-ADL scores. Specifically, it was observed that with an MMSEscore of approximately 23.9 points, as the I-ADL points increase, the odds of transfer also increase approximately 6.1% (I-ADL low: 8.5 points) to 23.5% (I-ADL high: 31.4), therefore odds of transfer are 17.4% higher than I-ADL low condition. Conclusion The study suggested that even though cognitive problems were not observed due to high MMSE scores, severe damage to I-ADL could lead to AD. Applications may be limited, but such cases may require careful monitoring at the site.

A 30-year-old male novice golfer was diagnosed with a clay-shoveler’s fracture. During golf practice, he experienced persistent posterior neck and upper back pain for a month. Cervical radiographs and computed tomography revealed a series of sequential spinous process fractures from C7 to T3. The patient was prescribed analgesic medication and fitted with a cervical brace alongside extracorporeal shockwave therapy (ESWT) directed explicitly toward the upper back region, subsequently leading to a notable reduction in pain. Therefore, ESWT could be considered an additional method for pain management in patients with clay-shoveler’s fractures.

Purpose: Alzheimer’s disease (AD) dementia may not be a single disease entity. Early-onset AD (EOAD) and late-onset AD (LOAD) have been united under the same eponym of AD until now, but disentangling the heterogeneity according to the age of sonset has been a major tenet in the field of AD research. Materials and Methods: Ninety-nine patients with AD (EOAD, n=54; LOAD, n=45) and 66 cognitively normal controls completed both [18F]THK5351 and [18F]flutemetamol (FLUTE) positron emission tomography scans along with structural magnetic resonance imaging and detailed neuropsychological tests. Results: EOAD patients had higher THK retention in the precuneus, parietal, and frontal lobe, while LOAD patients had higher THK retention in the medial temporal lobe. Intravoxel correlation analyses revealed that EOAD presented narrower territory of local FLUTE-THK correlation, while LOAD presented broader territory of correlation extending to overall parieto-occipito-temporal regions. EOAD patients had broader brain areas which showed significant negative correlations between cortical thickness and THK retention, whereas in LOAD, only limited brain areas showed significant correlation with THK retention. In EOAD, most of the cognitive test results were correlated with THK retention. However, a few cognitive test results were correlated with THK retention in LOAD. Conclusion LOAD seemed to show gradual increase in tau and amyloid, and those two pathologies have association to each other. On the other hand, in EOAD, tau and amyloid may develop more abruptly and independently. These findings suggest LOAD and EOAD may have different courses of pathomechanism.

Purpose: Alzheimer’s disease (AD) dementia may not be a single disease entity. Early-onset AD (EOAD) and late-onset AD (LOAD) have been united under the same eponym of AD until now, but disentangling the heterogeneity according to the age of sonset has been a major tenet in the field of AD research. Materials and Methods: Ninety-nine patients with AD (EOAD, n=54; LOAD, n=45) and 66 cognitively normal controls completed both [18F]THK5351 and [18F]flutemetamol (FLUTE) positron emission tomography scans along with structural magnetic resonance imaging and detailed neuropsychological tests. Results: EOAD patients had higher THK retention in the precuneus, parietal, and frontal lobe, while LOAD patients had higher THK retention in the medial temporal lobe. Intravoxel correlation analyses revealed that EOAD presented narrower territory of local FLUTE-THK correlation, while LOAD presented broader territory of correlation extending to overall parieto-occipito-temporal regions. EOAD patients had broader brain areas which showed significant negative correlations between cortical thickness and THK retention, whereas in LOAD, only limited brain areas showed significant correlation with THK retention. In EOAD, most of the cognitive test results were correlated with THK retention. However, a few cognitive test results were correlated with THK retention in LOAD. Conclusion LOAD seemed to show gradual increase in tau and amyloid, and those two pathologies have association to each other. On the other hand, in EOAD, tau and amyloid may develop more abruptly and independently. These findings suggest LOAD and EOAD may have different courses of pathomechanism.

Purpose: Alzheimer’s disease (AD) dementia may not be a single disease entity. Early-onset AD (EOAD) and late-onset AD (LOAD) have been united under the same eponym of AD until now, but disentangling the heterogeneity according to the age of sonset has been a major tenet in the field of AD research. Materials and Methods: Ninety-nine patients with AD (EOAD, n=54; LOAD, n=45) and 66 cognitively normal controls completed both [18F]THK5351 and [18F]flutemetamol (FLUTE) positron emission tomography scans along with structural magnetic resonance imaging and detailed neuropsychological tests. Results: EOAD patients had higher THK retention in the precuneus, parietal, and frontal lobe, while LOAD patients had higher THK retention in the medial temporal lobe. Intravoxel correlation analyses revealed that EOAD presented narrower territory of local FLUTE-THK correlation, while LOAD presented broader territory of correlation extending to overall parieto-occipito-temporal regions. EOAD patients had broader brain areas which showed significant negative correlations between cortical thickness and THK retention, whereas in LOAD, only limited brain areas showed significant correlation with THK retention. In EOAD, most of the cognitive test results were correlated with THK retention. However, a few cognitive test results were correlated with THK retention in LOAD. Conclusion LOAD seemed to show gradual increase in tau and amyloid, and those two pathologies have association to each other. On the other hand, in EOAD, tau and amyloid may develop more abruptly and independently. These findings suggest LOAD and EOAD may have different courses of pathomechanism.

Purpose: Alzheimer’s disease (AD) dementia may not be a single disease entity. Early-onset AD (EOAD) and late-onset AD (LOAD) have been united under the same eponym of AD until now, but disentangling the heterogeneity according to the age of sonset has been a major tenet in the field of AD research. Materials and Methods: Ninety-nine patients with AD (EOAD, n=54; LOAD, n=45) and 66 cognitively normal controls completed both [18F]THK5351 and [18F]flutemetamol (FLUTE) positron emission tomography scans along with structural magnetic resonance imaging and detailed neuropsychological tests. Results: EOAD patients had higher THK retention in the precuneus, parietal, and frontal lobe, while LOAD patients had higher THK retention in the medial temporal lobe. Intravoxel correlation analyses revealed that EOAD presented narrower territory of local FLUTE-THK correlation, while LOAD presented broader territory of correlation extending to overall parieto-occipito-temporal regions. EOAD patients had broader brain areas which showed significant negative correlations between cortical thickness and THK retention, whereas in LOAD, only limited brain areas showed significant correlation with THK retention. In EOAD, most of the cognitive test results were correlated with THK retention. However, a few cognitive test results were correlated with THK retention in LOAD. Conclusion LOAD seemed to show gradual increase in tau and amyloid, and those two pathologies have association to each other. On the other hand, in EOAD, tau and amyloid may develop more abruptly and independently. These findings suggest LOAD and EOAD may have different courses of pathomechanism.

OBJECTIVE: This study aimed to investigate the smoking behavior and attitude about smoking cessation of elderly and to evaluate the effect of accessing cognitive function in order to develop the cessation program for elderly smokers. METHODS: The participants were 108 enrolled from attending the cessation program of national non-smoking guide center. We examined the Smoking Cessation Motivation Scale, The Perceived Smoking Cessation Effects Scale (PSCES), Smoking selfefficacy/temptation, The Why test and Tobacco Craving Questionnaire. Cognitive status was ascertained by interviewing with geriatric neuropsychiatrist and comprehensive neurocognitive test battery. RESULTS: The older group had lower negative effect score of PSCES (52.0±17.7, 61.3±16.6, p=0.006) and higher smoking self-efficacy score (29.4±7.2, 26.0±8.3, p=0.028) than younger group. 47.1% of older group and 12.3% of younger group were mild cognitive impairment (p<0.001). The success rate of smoking cessation after 12 weeks was 92.2% in older group and 91.2% in younger group (p=1.00). CONCLUSION: The results indicate that the smoking cessation of elderly is not so challenge otherwise known as. Although the prevalence of mild cognitive impairment in smokers was higher than the general population, cognitive assessment and feedback might be made of the high success rate of smoking cessation. Further attention should be paid to the elderly tailored smoking cessation program and long-term follow-up.
Aged* ; Cognition* ; Craving ; Follow-Up Studies ; Humans ; Mild Cognitive Impairment ; Motivation ; Prevalence ; Smoke* ; Smoking Cessation* ; Smoking* ; Tobacco

BACKGROUND AND PURPOSE: There are three distinct subtypes of primary progressive aphasia (PPA): the nonfluent/agrammatic variant (nfvPPA), the semantic variant (svPPA), and the logopenic variant (lvPPA). We sought to characterize the pattern of [¹⁸F]-THK5351 retention across all three subtypes and determine the topography of [¹⁸F]-THK5351 retention correlated with each neurolinguistic score. METHODS: We enrolled 50 participants, comprising 13 PPA patients (3 nfvPPA, 5 svPPA, and 5 lvPPA) and 37 subjects with normal cognition (NC) who underwent 3.0-tesla magnetic resonance imaging, [¹⁸F]-THK5351 positron-emission tomography scans, and detailed neuropsychological tests. The PPA patients additionally participated in extensive neurolinguistic tests. Voxel-wise and region-of-interest-based analyses were performed to analyze [¹⁸F]-THK5351 retention. RESULTS: The nfvPPA patients exhibited higher [¹⁸F]-THK5351 retention in the the left inferior frontal and precentral gyri. In svPPA patients, [¹⁸F]-THK5351 retention was elevated in the anteroinferior and lateral temporal cortices compared to the NC group (left>right). The lvPPA patients exhibited predominant [¹⁸F]-THK5351 retention in the inferior parietal, lateral temporal, and dorsolateral prefrontal cortices, and the precuneus (left>right). [¹⁸F]-THK5351 retention in the left inferior frontal area was associated with lower fluency scores. Comprehension was correlated with [¹⁸F]-THK5351 retention in the left temporal cortices. Repetition was associated with [¹⁸F]-THK5351 retention in the left inferior parietal and posterior temporal areas, while naming difficulty was correlated with retention in the left fusiform and temporal cortices. CONCLUSIONS: The pattern of [¹⁸F]-THK5351 retention was well matched with clinical and radiological findings for each PPA subtype, in agreement with the anatomical and functional location of each language domain.
Aphasia, Primary Progressive ; Cognition ; Comprehension ; Humans ; Magnetic Resonance Imaging ; Neurofibrillary Tangles ; Neuropsychological Tests ; Parietal Lobe ; Positron-Emission Tomography ; Prefrontal Cortex ; Rabeprazole ; Semantics ; Temporal Lobe