3.Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course
Wonjae SUNG ; Young-Eun KIM ; Seung Hyun KIM
Korean Journal of Neuromuscular Disorders 2021;13(1):11-14
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathy caused by (GCN) expansions in the polyalanine binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11. This study reports a case of an incomplete clinical characteristics of OPMD with heterozygous (GCN)11 expansion. A fifty-nine-year-old Korean woman was suffering from non-progressive dysarthria, dysphagia for five years. Neurologic findings were unremarkable except for tongue atrophy and mild ptosis. A genetic screening confirmed heterozygous (GCN)11 expansion in the PABPN1 gene.
5.Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course
Wonjae SUNG ; Young-Eun KIM ; Seung Hyun KIM
Korean Journal of Neuromuscular Disorders 2021;13(1):11-14
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathy caused by (GCN) expansions in the polyalanine binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11. This study reports a case of an incomplete clinical characteristics of OPMD with heterozygous (GCN)11 expansion. A fifty-nine-year-old Korean woman was suffering from non-progressive dysarthria, dysphagia for five years. Neurologic findings were unremarkable except for tongue atrophy and mild ptosis. A genetic screening confirmed heterozygous (GCN)11 expansion in the PABPN1 gene.
7.Cognitive Impairment Screening Test in Korea as a Screening Tool for Dementia: The Correlation Study of Subtest Scores With Korean Version of the Mini Mental State Examination 2nd Edition
Minseong KIM ; Doyun HEO ; Seonkyeong KIM ; Yunjin LEE ; Yong Sung KIM ; Wonjae SUNG ; Hee-Jin KIM
Dementia and Neurocognitive Disorders 2025;24(2):126-134
Background:
and Purpose: The Cognitive Impairment Screening Test in Korea (CIST-K) was designed to detect cognitive decline. Developed independently and widely used in Korea, it is yet to be validated with other screening tests. This study aimed to introduce normative data to the CIST-K and assess its clinical usefulness through correlation analysis with the Korean version of the Mini-Mental State Examination, 2nd edition (K-MMSE-2).
Methods:
We enrolled 85 participants from a tertiary university hospital in Korea, including patients diagnosed with mild cognitive impairment and Alzheimer’s disease by experienced neurologists. Both the CIST-K and K-MMSE-2 were administered to assess the cognitive function of the participants, with scores from each subtest of the neuropsychological tests compared.
Results:
Multivariate correlation analysis, which was adjusted for age, sex, and education level, revealed a significant correlation between the two tests in orientation, memory, and attention. However, no significant correlation was found between the two tests in visuospatial and language functions.
Conclusions
In conclusion, this study demonstrates that some subtests in the CIST-K align with corresponding scores on the K-MMSE-2. However, caution is advised when interpreting visuospatial and language test scores from the CIST-K. Further validity studies are necessary to enhance the sensitivity of each subtest.
8.Cognitive Impairment Screening Test in Korea as a Screening Tool for Dementia: The Correlation Study of Subtest Scores With Korean Version of the Mini Mental State Examination 2nd Edition
Minseong KIM ; Doyun HEO ; Seonkyeong KIM ; Yunjin LEE ; Yong Sung KIM ; Wonjae SUNG ; Hee-Jin KIM
Dementia and Neurocognitive Disorders 2025;24(2):126-134
Background:
and Purpose: The Cognitive Impairment Screening Test in Korea (CIST-K) was designed to detect cognitive decline. Developed independently and widely used in Korea, it is yet to be validated with other screening tests. This study aimed to introduce normative data to the CIST-K and assess its clinical usefulness through correlation analysis with the Korean version of the Mini-Mental State Examination, 2nd edition (K-MMSE-2).
Methods:
We enrolled 85 participants from a tertiary university hospital in Korea, including patients diagnosed with mild cognitive impairment and Alzheimer’s disease by experienced neurologists. Both the CIST-K and K-MMSE-2 were administered to assess the cognitive function of the participants, with scores from each subtest of the neuropsychological tests compared.
Results:
Multivariate correlation analysis, which was adjusted for age, sex, and education level, revealed a significant correlation between the two tests in orientation, memory, and attention. However, no significant correlation was found between the two tests in visuospatial and language functions.
Conclusions
In conclusion, this study demonstrates that some subtests in the CIST-K align with corresponding scores on the K-MMSE-2. However, caution is advised when interpreting visuospatial and language test scores from the CIST-K. Further validity studies are necessary to enhance the sensitivity of each subtest.
9.Cognitive Impairment Screening Test in Korea as a Screening Tool for Dementia: The Correlation Study of Subtest Scores With Korean Version of the Mini Mental State Examination 2nd Edition
Minseong KIM ; Doyun HEO ; Seonkyeong KIM ; Yunjin LEE ; Yong Sung KIM ; Wonjae SUNG ; Hee-Jin KIM
Dementia and Neurocognitive Disorders 2025;24(2):126-134
Background:
and Purpose: The Cognitive Impairment Screening Test in Korea (CIST-K) was designed to detect cognitive decline. Developed independently and widely used in Korea, it is yet to be validated with other screening tests. This study aimed to introduce normative data to the CIST-K and assess its clinical usefulness through correlation analysis with the Korean version of the Mini-Mental State Examination, 2nd edition (K-MMSE-2).
Methods:
We enrolled 85 participants from a tertiary university hospital in Korea, including patients diagnosed with mild cognitive impairment and Alzheimer’s disease by experienced neurologists. Both the CIST-K and K-MMSE-2 were administered to assess the cognitive function of the participants, with scores from each subtest of the neuropsychological tests compared.
Results:
Multivariate correlation analysis, which was adjusted for age, sex, and education level, revealed a significant correlation between the two tests in orientation, memory, and attention. However, no significant correlation was found between the two tests in visuospatial and language functions.
Conclusions
In conclusion, this study demonstrates that some subtests in the CIST-K align with corresponding scores on the K-MMSE-2. However, caution is advised when interpreting visuospatial and language test scores from the CIST-K. Further validity studies are necessary to enhance the sensitivity of each subtest.
10.Cognitive Impairment Screening Test in Korea as a Screening Tool for Dementia: The Correlation Study of Subtest Scores With Korean Version of the Mini Mental State Examination 2nd Edition
Minseong KIM ; Doyun HEO ; Seonkyeong KIM ; Yunjin LEE ; Yong Sung KIM ; Wonjae SUNG ; Hee-Jin KIM
Dementia and Neurocognitive Disorders 2025;24(2):126-134
Background:
and Purpose: The Cognitive Impairment Screening Test in Korea (CIST-K) was designed to detect cognitive decline. Developed independently and widely used in Korea, it is yet to be validated with other screening tests. This study aimed to introduce normative data to the CIST-K and assess its clinical usefulness through correlation analysis with the Korean version of the Mini-Mental State Examination, 2nd edition (K-MMSE-2).
Methods:
We enrolled 85 participants from a tertiary university hospital in Korea, including patients diagnosed with mild cognitive impairment and Alzheimer’s disease by experienced neurologists. Both the CIST-K and K-MMSE-2 were administered to assess the cognitive function of the participants, with scores from each subtest of the neuropsychological tests compared.
Results:
Multivariate correlation analysis, which was adjusted for age, sex, and education level, revealed a significant correlation between the two tests in orientation, memory, and attention. However, no significant correlation was found between the two tests in visuospatial and language functions.
Conclusions
In conclusion, this study demonstrates that some subtests in the CIST-K align with corresponding scores on the K-MMSE-2. However, caution is advised when interpreting visuospatial and language test scores from the CIST-K. Further validity studies are necessary to enhance the sensitivity of each subtest.