Article
Anatomy & Morphology
Carolin Scholl, Javier Baladron, Julien Vitay, Fred H. Hamker
Summary: Research reveals that Tourette patients have an increased propensity to habitual behaviors. A neuro-computational model suggests that enhanced habit formation in Tourette patients may be linked to faster plasticity in shortcut connections or stronger feedback from the shortcut to the basal ganglia. This study provides a theoretical basis for further understanding the pathophysiology of Tourette syndrome and potential treatment strategies.
BRAIN STRUCTURE & FUNCTION
(2022)
Article
Neurosciences
Zhiyu Yang, Hanrui Wu, Phil H. Lee, Fotis Tsetsos, Lea K. Davis, Dongmei Yu, Sang Hong Lee, Soren Dalsgaard, Jan Haavik, Csaba Barta, Tetyana Zayats, Valsamma Eapen, Naomi R. Wray, Bernie Devlin, Mark Daly, Benjamin Neale, Anders D. Borglum, James J. Crowley, Jeremiah Scharf, Carol A. Mathews, Stephen V. Faraone, Barbara Franke, Manuel Mattheisen, Jordan W. Smoller, Peristera Paschou
Summary: The study investigates the shared genetic basis across TS, ADHD, ASD, and OCD, revealing a common unifying factor connecting TS, ADHD, and ASD, while showing the highest genetic correlation between TS and OCD. Through a systematic meta-analysis, multiple novel hits and regions have been identified, indicating pleiotropic roles for specific disorders analyzed here. The study underlines the importance of redefining the framework for research across traditional diagnostic categories.
BIOLOGICAL PSYCHIATRY
(2021)
Article
Immunology
Hussein Kaddour, Marina McDew-White, Miguel M. Madeira, Malik A. Tranquille, Stella E. Tsirka, Mahesh Mohan, Chioma M. Okeoma
Summary: This study demonstrates for the first time the presence of extracellular vesicles (EVs) in the basal ganglia (BG), and shows that SIV and THC can modulate the cargo and function of BG-EVs. The study also reveals significant changes in specific miRNAs associated with SIV infection and THC treatment in BG-EVs. Additionally, BG-EVs can activate astrocytes and alter gene expression in a CX3CR1-dependent manner. These findings highlight the potential role of BG-EVs in disseminating HIV- and THC-induced changes within the central nervous system (CNS).
JOURNAL OF NEUROINFLAMMATION
(2022)
Article
Psychiatry
Jian Xu, Rong-Jian Liu, Shaylyn Fahey, Luciana Frick, James Leckman, Flora Vaccarino, Ronald S. Duman, Kyle Williams, Susan Swedo, Christopher Pittenger
Summary: The study found that IgG antibodies from children with PANDAS bound to cholinergic interneurons in the striatum, potentially contributing to the onset of acute OCD symptoms in children. After IVIG treatment, there was a reduction in IgG binding to CINs in PANDAS children's serum, which correlated with symptom improvement.
AMERICAN JOURNAL OF PSYCHIATRY
(2021)
Article
Behavioral Sciences
Zhongling Ke, Yanhui Chen, Guofeng Chen, Yanyan Liu
Summary: This study investigated the relationship between neuroinflammation and behavioral alterations in rats with Tourette syndrome (TS). The findings suggest that TS rats induced by IDPN exhibit significant neuroinflammation in the brain, and there may be an interaction between dopamine dysregulation and immune dysfunction in the pathogenic mechanisms of TS.
FRONTIERS IN BEHAVIORAL NEUROSCIENCE
(2022)
Review
Psychology, Multidisciplinary
Jacopo Lamanna, Mattia Ferro, Sara Spadini, Gabriella Racchetti, Antonio Malgaroli
Summary: Tourette Syndrome (TS) is a neuropsychiatric disorder characterized by motor and vocal tics. The origin of TS involves strong genetic, perinatal, and immunological influences. The pathophysiology of TS is not fully understood, but it is thought to be related to structural and functional abnormalities in neural circuits, particularly in the basal ganglia.
BEHAVIORAL SCIENCES
(2023)
Review
Clinical Neurology
Kara A. Johnson, Yulia Worbe, Kelly D. Foote, Christopher R. Butson, Aysegul Gunduz, Michael S. Okun
Summary: Tourette syndrome is a chronic neurodevelopmental disorder characterized by motor and phonic tics that greatly impact the quality of life of affected individuals. Recent research has provided new insights into the genetic variations and neurophysiological changes that contribute to its pathogenesis. Treatment options, including novel pharmacological therapies and deep brain stimulation, are expanding, and the identification of potential predictors of patient responses can guide clinical decisions. Multicentre data sharing initiatives are crucial for advancing our understanding of the genetics and pathophysiology of Tourette syndrome and refining effective treatments.
Article
Multidisciplinary Sciences
Esther Vinner Harduf, Ayala Matzner, Katya Belelovsky, Izhar Bar-Gad
Summary: The study demonstrates a reduction in tic expression during sleep in an animal model of chronic tic disorders and investigates the underlying neural mechanism. The findings point towards a possible mechanism for the modulation of tic expression in patients with TS during sleep and potentially during other behavioral states.
Article
Multidisciplinary Sciences
Elizabeth E. Manning, Abigail Y. Wang, Linda M. Saikali, Anna S. Winner, Susanne E. Ahmari
Summary: In this study, the relationship between sensorimotor gating, compulsive behavior, and striatal dopamine receptor levels was examined in Sapap3 knockout mice, a preclinical model for OCD research. The results showed a trend for disruption of sensorimotor gating, significant correlation between PPI disruption and compulsive grooming severity, and association with reduced dopamine receptor density in the nucleus accumbens core. This suggests that changes in NAcC dopamine receptors may be involved in the disruption of sensorimotor gating and compulsive behavior relevant to OCD.
SCIENTIFIC REPORTS
(2021)
Article
Psychiatry
Amy Cross, Denis Bouboulis, Craig Shimasaki, Charles Ray Jones
Summary: This case report discusses the diagnosis and treatment of a pre-pubertal Caucasian female with Lyme disease and neuropsychiatric symptoms following a vacation in a tick endemic area. The patient also met clinical criteria for PANDAS and had streptococcal pharyngitis, but achieved complete remission after 31 months of treatment with antimicrobials and IVIg. Written consent was obtained for publication of this case study.
FRONTIERS IN PSYCHIATRY
(2021)
Review
Cell Biology
Khoa D. Nguyen, Andrea Amerio, Andrea Aguglia, Luca Magnani, Alberto Parise, Benedetta Conio, Gianluca Serafini, Mario Amore, Alessandra Costanza
Summary: This review summarizes the emerging evidence on clinical correlates to immune system dysfunction in schizophrenia and attempts to develop a unifying hypothesis regarding the contribution of microglia and various immune cell populations to the development of schizophrenia. These findings may provide important translational insights for addressing the multifaceted clinical presentation of the disorder.
Article
Multidisciplinary Sciences
Indrajeet Indrajeet, Cyril Atkinson-Clement, Yulia Worbe, Pierre Pouget, Supriya Ray
Summary: Tourette disorder (TD) patients show deficits in reactive inhibitory control but not proactive inhibitory control.
SCIENTIFIC REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Madeeha H. Sheikh, Mariella Errede, Antonio D'Amati, Noorafza Q. Khan, Silvia Fanti, Rodrigo A. Loiola, Simon McArthur, Gareth S. D. Purvis, Caroline E. O'Riordan, Davide Ferorelli, Alessandro Dell'Erba, Julius Kieswich, Chis Reutelingsperger, Eugenio Maiorano, Magdi Yaqoob, Christoph Thiemermann, Andrea Baragetti, Alberico Luigi Catapano, Giuseppe Danilo Norata, Federica Marelli-Berg, Daniela Virgintino, Egle Solito
Summary: Mounting evidence suggests a link between metabolic disease and neurovascular disorders and cognitive decline. This study used mouse models and post-mortem brains of T2DM patients to show that metabolic disease damages the blood-brain barrier (BBB), leading to increased leukocyte extravasation and neuroinflammation. Therapeutic interventions such as pharmacological treatment and dietary changes were found to reduce BBB damage.
Review
Medicine, General & Internal
Anshuta Ramteke, Yashwant Lamture
Summary: Tourette syndrome is a condition characterized by diverse symptoms and associated with comorbidities like OCD and ADHD. Clinicians should aggressively treat tics and be aware of potential neurological problems. Symptom-based medication is currently the main approach, but disease-modifying medications may become more common in the future.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Review
Behavioral Sciences
Anna D. Shitova, Tatyana S. Zharikova, Olga N. Kovaleva, Anastasia M. Luchina, Arthur S. Aktemirov, Anna V. Olsufieva, Mikhail Y. Sinelnikov, Andre Pontes-Silva, Yury O. Zharikov
Summary: Currently, advanced neuroimaging methods allow for a more detailed study of the pathogenesis of Tourette's syndrome (TS). However, limited understanding of the disorder and its relationship to psychiatric disorders, particularly obsessive-compulsive disorder (OCD), restricts medical and surgical treatment options. The imbalance of excitatory and inhibitory influences in the Cortico-Striato-Thalamo-Cortical circuits (CSTC) is believed to be the origin of chronic tic disorders. This review aims to discuss the comorbidity of TS and OCD, the involvement of CSTC in the pathogenesis of both disorders, and the structural and neurotransmitter changes in CSTC that may be targeted for drug and neuromodulatory treatments.
BEHAVIOURAL BRAIN RESEARCH
(2023)
Article
Clinical Neurology
Jeng-Dau Tsai, Pi-Chuan Fan, Wang-Tso Lee, Pi-Lien Hung, Kun-Long Hung, Huei-Shyong Wang, Kuang-Lin Lin
Summary: This study found that vagus nerve stimulation can significantly reduce seizure frequency in children with failed epilepsy surgeries, suggesting its potential as an alternative therapy for these patients.
ACTA NEUROLOGICA BELGICA
(2021)
Article
Clinical Neurology
Shan-Fu Ou, Che-Sheng Ho, Wang-Tso Lee, Kuang-Lin Lin, Cynthia C. Jones, Yuh-Jyh Jong
Summary: The study in Taiwan provides insights into the disease progression of SMA Type I and highlights the positive impact of supportive measures on survival. The findings show that patients with 3 SMN2 copies have longer survival compared to those with 2 copies, and the use of supportive measures is associated with improved survival outcomes.
BRAIN & DEVELOPMENT
(2021)
Article
Genetics & Heredity
Wen-Chin Weng, Yu-Kan Hsu, Fu-Man Chang, Chun-Yen Lin, Wuh-Liang Hwu, Wang-Tso Lee, Ni-Chung Lee, Yin-Hsiu Chien
Summary: This study conducted a large-scale newborn screening program for spinal muscular atrophy in Taiwan and identified 21 patients, with 70% being SMA type 1. The changes in CMAP amplitude in newborns could predict symptom onset and affect treatment outcomes.
GENETICS IN MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Yu-Chia Kao, Ming- Lin, Wen-Chin Weng, Wang-Tso Lee
Summary: Limbic encephalitis is a rare neurological condition characterized by acute and subacute neuropsychiatric symptoms, with memory deficits and confusion as core features, often accompanied by seizures, movement disorders, or autonomic dysfunction. Early diagnosis with neuronal antibody testing is crucial due to the lack of sensitive cerebrospinal fluid markers. Additionally, some cases of LE are paraneoplastic, requiring tumor surveillance and treatment in addition to immunotherapy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Yen-Ju Chu, Chi-Feng Chang, Wen-Chin Weng, Pi-Chuan Fan, Jiann-Shing Shieh, Wang-Tso Lee
Summary: The study found that the total EEG complexity of infantile spasms patients before treatment and 6 months after ACTH therapy is associated with spasm-freedom.
CLINICAL NEUROPHYSIOLOGY
(2021)
Article
Behavioral Sciences
Lee Chin Wong, Yen-Tsz Chen, Shu-Mei Tsai, Yen-Ju Lin, Chia-Jui Hsu, Hsin-Pei Wang, Su-Ching Hu, Hsiu-Yu Shen, Wen-Che Tsai, Wang-Tso Lee
Summary: This study found that factors such as dystonia, disease severity, hand use impairment, and nutrition intake may impact growth patterns in individuals with Rett syndrome. Protein intake was associated with the severity of growth deficit in RTT patients. Ethnicity should also be considered when comparing growth patterns of RTT individuals.
Review
Medicine, General & Internal
Hsin-Pei Wang, Lee-Chin Wong, Chia-Jui Hsu, Su-Ching Hu, Yen-Ju Chu, Wang-Tso Lee
Summary: Neurometabolic diseases are a complex group of rare neurogenetic disorders with diverse clinical manifestations, of which ocular motor problems are an important feature. Early recognition and intervention play a crucial role in treatment and prognosis.
JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
(2022)
Editorial Material
Clinical Neurology
Brahim Tabarki, Juan Dario Ortigoza-Escobar, Wang-Tso Lee, Majid AlFadhel
FRONTIERS IN NEUROLOGY
(2021)
Article
Orthopedics
Shih-Ya Wang, Wang-Tso Lee, Jeng-Yi Shieh, Yen-Hsun Huang, Lee-Chin Wong, Chih-Hsuan Tsao, Yi-Lun Chiu, Yen-Tzu Wu
Summary: This study aimed to examine clinical severity, multidimensional development, and adaptive behavioral functioning in younger and older children with Rett syndrome (RTT) in stage III. Differences were found between young and old RTT patients in terms of severity, fine motor skills, social interaction abilities, but not in adaptive behavioral and daily functional skills. Greater severity of RTT was associated with poorer motor, sociocommunicative, adaptive behavioral, and daily functional skills.
Article
Nutrition & Dietetics
Chang-Chun Wu, Lee-Chin Wong, Chia-Jui Hsu, Chianne-Wen Yang, Ying-Chieh Tsai, Feng-Shiang Cheng, Hsiao-Yun Hu, Wang-Tso Lee
Summary: The study suggests that probiotics may not reduce tics in children with Tourette syndrome, but they may benefit comorbidities such as attention deficit and hyperactivity disorder. Further research is needed to clarify the effects of probiotics on the comorbidities of Tourette syndrome children.
Article
Multidisciplinary Sciences
Chia-Hsuan Huang, Pi-Lien Hung, Pi-Chuan Fan, Kuang-Lin Lin, Ting-Rong Hsu, I-Jun Chou, Che-Sheng Ho, I-Ching Chou, Wei-Sheng Lin, Inn-Chi Lee, Hueng-Chuen Fan, Shyi-Jou Chen, Jao-Shwann Liang, Yi-Fang Tu, Tung-Ming Chang, Su-Ching Hu, Lee-Chin Wong, Kun-Long Hung, Wang-Tso Lee
Summary: Dravet syndrome has negative impacts on patients and caretakers, with caregivers facing challenges in daily life tasks, symptom observation, medical planning, and financial issues. Despite the decrease in seizure frequency with age, vaccines do not seem to affect the condition of DS patients.
SCIENTIFIC REPORTS
(2021)
Article
Medicine, General & Internal
Hsueh-Wen Hsueh, Wen-Chin Weng, Pi-Chuan Fan, Yin-Hsiu Chien, Feng-Jung Yang, Wang-Tso Lee, Ru-Jen Lin, Wuh-Liang Hwu, Chih-Chao Yang, Ni-Chung Lee
Summary: This single-center study utilized next-generation sequencing to diagnose hereditary neuromuscular diseases. The results revealed a great diversity in hereditary NMDs and highlighted the importance of high-quality clinical and laboratory evaluations. Positive family history had a positive impact on the diagnostic rate.
JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
(2022)
Article
Clinical Neurology
Pin-Shiuan Chen, Ni-Chung Lee, Chieh-Ju Sung, Ya-Wen Liu, Wen-Chin Weng, Pi-Chuan Fan, Wang-Tso Lee, Yin-Hsiu Chien, Chao-Szu Wu, Yueh-Feng Sung, Ming-Chen Tsai, Yi-Chung Lee, Hsueh-Wen Hsueh, Sabrina Mai-Yi Fan, Meng-Chen Wu, Hsun Li, Huan-Yun Chen, Han- Lin, Chih-Hsin Ou-Yang, Wuh-Liang Hwuh, Chin-Hsien Lin
Summary: This study describes the clinical characteristics and functional findings in a cohort of patients with NDUFAF5 mutations, and reveals significant heterogeneity and divergent prognosis based on age at onset. This research is important for understanding the association between NDUFAF5 mutations and Leigh syndrome.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Chia-Jui Hsu, Lee Chin Wong, Hsin-Pei Wang, Yi-Chun Chung, Te-Wei Kao, Chen-Hsiang Weng, Wen-Chau Wu, Shinn-Forng Peng, Wen-Yih Isaac Tseng, Wang-Tso Lee
Summary: This study used diffusion spectrum imaging to investigate microstructural changes in treatment-naive pediatric patients with pure Gilles de la Tourette syndrome (GTS). The results showed increased connectivity within the cortico-striato-thalamocortical (CSTC) circuit in GTS patients, suggesting possible CSTC circuit dysregulation and highlighting the need for further investigation into the underlying pathological changes in GTS. The altered connectivity observed in GTS patients could potentially serve as a target for therapeutic intervention.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2023)
Article
Medicine, General & Internal
Chun-Hwei Tai, Wang-Tso Lee, Sheng-Hong Tseng
Summary: This case study discusses the successful treatment of a teenager with DYT6 dystonia and severe scoliosis using GPi DBS, resulting in significant improvement and prevention of spinal deformity and disability. Early diagnosis and timely treatment of dystonia in adolescent patients are important, and careful evaluation of etiology of severe scoliosis, including consideration of dystonia as a differential diagnosis, is recommended. GPi-DBS in patients with DYT6 dystonia can effectively prevent deformity progression.
INTERNATIONAL MEDICAL CASE REPORTS JOURNAL
(2021)