5.Intellectual Disability in Episodic Ataxia Type 2:Beyond Paroxysmal Vertigo and Ataxia
Seoyeon KIM ; Ji-Soo KIM ; Seung-Han LEE ; Jae-Myung KIM ; Seunghee NA ; Jae-Hwan CHOI ; Hyo-Jung KIM
Journal of Clinical Neurology 2024;20(6):563-570
Background:
and Purpose Episodic ataxia type 2 (EA2) is characterized by recurrent vertigo and ataxia due to mutations in CACNA1A that encodes the α 1A-subunit of the P/Q-type voltage-gated calcium channel. This study aimed to determine intellectual function in EA2.
Methods:
During 2019–2023, 13 patients (6 males, age range=10–52 years, median age=29 years) with a genetically confirmed diagnosis of EA2 had their intellectual function evaluated using the Korean versions of the Wechsler Intelligence Scales (version IV) for adults or children in 3 referral-based university hospitals in South Korea.
Results:
The full-scale intelligence quotients (FSIQs) among the 13 patients were below the average (90–109) in 11, low average (80–89) in 5 (38.5%), borderline (70–79) in 1 (7.7%), and indicated intellectual disability (≤69) in 5 (38.5%). These patterns of cognitive impairments were observed in all four of the following subtests: verbal comprehension, perceptual reasoning, working memory, and processing speed. The FSIQ was not correlated with the ages at onset for vertigo and ataxia (Pearson correlation: p=0.40).
Conclusions
Patients with EA2 may have hidden intellectual disabilities even without a history of epilepsy or administration of antiepileptic drugs, and should be considered for genetic counseling and therapeutic interventions. Given the availability of medication to control episodic vertigo and ataxia, early diagnosis and management are important in preventing irreversible brain dysfunction in EA2.
6.Intellectual Disability in Episodic Ataxia Type 2:Beyond Paroxysmal Vertigo and Ataxia
Seoyeon KIM ; Ji-Soo KIM ; Seung-Han LEE ; Jae-Myung KIM ; Seunghee NA ; Jae-Hwan CHOI ; Hyo-Jung KIM
Journal of Clinical Neurology 2024;20(6):563-570
Background:
and Purpose Episodic ataxia type 2 (EA2) is characterized by recurrent vertigo and ataxia due to mutations in CACNA1A that encodes the α 1A-subunit of the P/Q-type voltage-gated calcium channel. This study aimed to determine intellectual function in EA2.
Methods:
During 2019–2023, 13 patients (6 males, age range=10–52 years, median age=29 years) with a genetically confirmed diagnosis of EA2 had their intellectual function evaluated using the Korean versions of the Wechsler Intelligence Scales (version IV) for adults or children in 3 referral-based university hospitals in South Korea.
Results:
The full-scale intelligence quotients (FSIQs) among the 13 patients were below the average (90–109) in 11, low average (80–89) in 5 (38.5%), borderline (70–79) in 1 (7.7%), and indicated intellectual disability (≤69) in 5 (38.5%). These patterns of cognitive impairments were observed in all four of the following subtests: verbal comprehension, perceptual reasoning, working memory, and processing speed. The FSIQ was not correlated with the ages at onset for vertigo and ataxia (Pearson correlation: p=0.40).
Conclusions
Patients with EA2 may have hidden intellectual disabilities even without a history of epilepsy or administration of antiepileptic drugs, and should be considered for genetic counseling and therapeutic interventions. Given the availability of medication to control episodic vertigo and ataxia, early diagnosis and management are important in preventing irreversible brain dysfunction in EA2.
7.Intellectual Disability in Episodic Ataxia Type 2:Beyond Paroxysmal Vertigo and Ataxia
Seoyeon KIM ; Ji-Soo KIM ; Seung-Han LEE ; Jae-Myung KIM ; Seunghee NA ; Jae-Hwan CHOI ; Hyo-Jung KIM
Journal of Clinical Neurology 2024;20(6):563-570
Background:
and Purpose Episodic ataxia type 2 (EA2) is characterized by recurrent vertigo and ataxia due to mutations in CACNA1A that encodes the α 1A-subunit of the P/Q-type voltage-gated calcium channel. This study aimed to determine intellectual function in EA2.
Methods:
During 2019–2023, 13 patients (6 males, age range=10–52 years, median age=29 years) with a genetically confirmed diagnosis of EA2 had their intellectual function evaluated using the Korean versions of the Wechsler Intelligence Scales (version IV) for adults or children in 3 referral-based university hospitals in South Korea.
Results:
The full-scale intelligence quotients (FSIQs) among the 13 patients were below the average (90–109) in 11, low average (80–89) in 5 (38.5%), borderline (70–79) in 1 (7.7%), and indicated intellectual disability (≤69) in 5 (38.5%). These patterns of cognitive impairments were observed in all four of the following subtests: verbal comprehension, perceptual reasoning, working memory, and processing speed. The FSIQ was not correlated with the ages at onset for vertigo and ataxia (Pearson correlation: p=0.40).
Conclusions
Patients with EA2 may have hidden intellectual disabilities even without a history of epilepsy or administration of antiepileptic drugs, and should be considered for genetic counseling and therapeutic interventions. Given the availability of medication to control episodic vertigo and ataxia, early diagnosis and management are important in preventing irreversible brain dysfunction in EA2.
8.Comparative Review of Pharmacological Treatment Guidelines for Bipolar Disorder
Seoyeon CHIN ; Hyoyoung KIM ; Jiye LEE ; Yesul KIM ; Bo-young KWON ; Boyoon CHOI ; Bobae LEE ; Chae-Eun KWON ; Yeongdo MUN ; Kaveesha FERNANDO ; Ji Hyun PARK
Korean Journal of Clinical Pharmacy 2023;33(3):153-167
Objective:
Bipolar disorder displays a spectrum of manifestations, including manic, hypomanic, depressive, mixed, psychotic, and atypical episodes, contributing to its chronic nature and association with heightened suicide risk. Creating effective pharmacotherapy guidelines is crucial for managing bipolar disorder and reducing its prevalence. Treatment algorithms grounded in science have improved symptom management, but variations in recommended medications arise from research differences, healthcare policies, and cultural nuances globally.
Methods:
This study compares Korea’s bipolar disorder treatment algorithm with guidelines from the UK, Australia, and an international association. The aim is to uncover disparities in key recommended medications and their underlying factors. Differences in CYP450 genotypes affecting drug metabolism contribute to distinct recommended medications. Variances also stem from diverse guideline development approaches—expert consensus versus metaanalysis results—forming the primary differences between Korea and other countries.
Results:
Discrepancies remain in international guidelines relying on meta-analyses due to timing and utilized studies. Drug approval speeds further impact medication selection. However, limited high-quality research results are the main cause of guideline variations, hampering consistent treatment conclusions.
Conclusion
Korea’s unique Delphi-based treatment algorithm stands out. To improve evidence-based recommendations, large-scale studies assessing bipolar disorder treatments for the Korean population are necessary. This foundation will ensure future recommendations are rooted in scientific evidence.
9.Association of Prefrontal Cortex Thinning with High Impulsivity in Healthy Adults
Ji-Eun LIM ; Seoyeon KIM ; Surin SEO ; Wooyoung KANG ; Aram KIM ; Youbin KANG ; Kwan Woo CHOI ; Woo-Suk TAE ; Byung-Joo HAM ; Kyu-Man HAN
Psychiatry Investigation 2021;18(6):570-579
Objective:
Studies have been conducted to identify brain structural alterations related to high impulsivity in psychiatric populations. However, research on healthy subjects is relatively less extensive. Therefore, we aimed to investigate the correlation between the cortical thickness of whole brain regions and the impulsivity level in a healthy population.
Methods:
We included 100 healthy participants aged 19–65 years. Their T1-weighted magnetic resonance images and the 23-item Barratt Impulsiveness Scale (BIS) score were obtained. The patients were divided into high and low impulsivity groups according to the 75th percentile score of the BIS in the sample. The thickness of each cortical region was calculated using the FreeSurfer, and the difference in cortical thickness of the whole brain between the high and low impulsivity groups was analyzed using one-way analysis of covariance including age, sex, education level, and total intracranial cavity volume as covariates.
Results:
The high impulsivity group showed significant cortical thinning in the left pars opercularis. The cortical thickness of the left pars opercularis significantly correlated negatively with the total, attention, and motor scores of the BIS scale.
Conclusion
Our findings suggest that prefrontal cortex thinning may play an important role in the development of high impulsivity in healthy adults.
10.Association of Prefrontal Cortex Thinning with High Impulsivity in Healthy Adults
Ji-Eun LIM ; Seoyeon KIM ; Surin SEO ; Wooyoung KANG ; Aram KIM ; Youbin KANG ; Kwan Woo CHOI ; Woo-Suk TAE ; Byung-Joo HAM ; Kyu-Man HAN
Psychiatry Investigation 2021;18(6):570-579
Objective:
Studies have been conducted to identify brain structural alterations related to high impulsivity in psychiatric populations. However, research on healthy subjects is relatively less extensive. Therefore, we aimed to investigate the correlation between the cortical thickness of whole brain regions and the impulsivity level in a healthy population.
Methods:
We included 100 healthy participants aged 19–65 years. Their T1-weighted magnetic resonance images and the 23-item Barratt Impulsiveness Scale (BIS) score were obtained. The patients were divided into high and low impulsivity groups according to the 75th percentile score of the BIS in the sample. The thickness of each cortical region was calculated using the FreeSurfer, and the difference in cortical thickness of the whole brain between the high and low impulsivity groups was analyzed using one-way analysis of covariance including age, sex, education level, and total intracranial cavity volume as covariates.
Results:
The high impulsivity group showed significant cortical thinning in the left pars opercularis. The cortical thickness of the left pars opercularis significantly correlated negatively with the total, attention, and motor scores of the BIS scale.
Conclusion
Our findings suggest that prefrontal cortex thinning may play an important role in the development of high impulsivity in healthy adults.

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