Article
Neurosciences
Yoshiko Munesue, Naohide Ageyama, Nobuyuki Kimura, Ichiro Takahashi, Shunya Nakayama, Sachi Okabayashi, Yuko Katakai, Hiroshi Koie, Ken-ichi Yagami, Kazuhiro Ishii, Akira Tamaoka, Yasuhiro Yasutomi, Nobuhiro Shimozawa
Summary: We report the discovery of cynomolgus macaques carrying the CLN2/TPP1 variant and confirm their neurodegenerative symptoms, which could serve as a new non-human primate model for NCL type 2 disease. These macaques exhibited progressive neuronal clinical symptoms and showed significant cerebellar and cerebral atrophy in the gray matter. Histopathological analysis revealed severe neuronal loss and degeneration, as well as the presence of ceroid-lipofuscin in neurons.
EXPERIMENTAL NEUROLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Rebecca C. Ahrens-Nicklas, Luis Tecedor, Arron F. Hall, Owen Kane, Richard J. Chung, Elena Lysenko, Eric D. Marsh, Colleen S. Stein, Beverly L. Davidson
Summary: Neurologic symptoms in lysosomal storage disorders are often caused by neuronal dysfunction rather than storage accumulation, highlighting the importance of understanding the underlying mechanisms for therapy development in these disorders such as CLN3 disease.
Article
Genetics & Heredity
Yimeng Qiao, Yang Gu, Ye Cheng, Yu Su, Nan Lv, Qing Shang, Qinghe Xing
Summary: This article reports a Chinese patient with CLN7 who carries compound heterozygous mutations in the MFSD8 gene, including a novel two-nucleotide deletion and a whole gene deletion. The results suggest that whole gene deletion of MFSD8 may be one of the genetic mutation types in CLN7 patients. Therefore, genetic counseling staff should consider the possibility of whole gene deletion in CLN7 patients with biallelic mutations in the MFSD8 gene.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
John R. Ostergaard, Hemanth R. Nelvagal, Jonathan D. Cooper
Summary: This study compares the symptomatology and pathology of CLN1 and CLN3 phenotypes, indicating that despite similar pathological endpoints, their disease propagation pathways differ significantly. CLN1 disease represents a Body-first propagation model while CLN3 disease follows a Brain-first propagation model.
FRONTIERS IN NEUROLOGY
(2022)
Review
Clinical Neurology
Guillermo Guelbert, Ana Clara Venier, Ines Adriana Cismondi, Adriana Becerra, Juan Carlos Vazquez, Elmer Andres Fernandez, Ana Lucia De Paul, Norberto Guelbert, Ines Noher, Favio Pesaola
Summary: This study reviewed the characteristics and data of neuronal ceroid lipofuscinoses (NCLs) in the South American and Caribbean region. CLN2, CLN6, and CLN3 were found to be the most common diseases in this region. The symptoms include seizures, language impairments, motor impairments, and visual impairments, with onset age usually below 10 years old.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Pimchanok Kulsirichawaroj, Surachai Likasitwattanakul, Ponghatai Boonsimma, Kanjana Prangphan, Mongkol Chanvanichtrakool
Summary: This study reported two cases of CLN disease with clinical features similar to Rett syndrome in children, emphasizing the importance of considering CLN disease in patients with a Rett-like phenotype when MECP2 mutation is negative.
PEDIATRIC NEUROLOGY
(2022)
Review
Clinical Neurology
Udo Bartsch, Stephan Storch
Summary: This review discusses the key findings of different experimental approaches in NCL animal models aimed at attenuating progressive retinal degeneration and the decline in retinal function. Experimental enzyme replacement therapy, gene therapy, cell-based therapy, and immunomodulation therapy were evaluated and showed encouraging therapeutic benefits. Gene-based approaches, in particular, have shown strong potential in treating retinal dystrophies in NCLs.
FRONTIERS IN NEUROLOGY
(2022)
Review
Clinical Neurology
Marina Trivisano, Alessandro Ferretti, Costanza Calabrese, Nicola Pietrafusa, Ludovica Piscitello, Giusy Carfi' Pavia, Federico Vigevano, Nicola Specchio
Summary: Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative diseases characterized by progressive cerebral atrophy due to lysosomal storage disorder. Early diagnosis is crucial and neurophysiological features can be helpful for this purpose. Electroencephalogram (EEG), visual evoked potentials (VEPs), and electroretinogram (ERG) are essential tools for early diagnosis of NCLs.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Melis Kose, Engin Kose, Aycan Unalp, Unsal Yilmaz, Selvinaz Edizer, Hande Gazeteci Tekin, Pakize Karaoglu, Taha Resid Ozdemir, Esra Er, Huseyin Onay, Eser Sozmen Yildirim
Summary: This study discusses the clinical and molecular characteristics of 14 patients diagnosed with different types of NCL, including NCL7, NCL1, NCL2, and others. The results revealed 11 pathogenic variants, 5 of which are novel.
NEUROLOGICAL SCIENCES
(2021)
Article
Cell Biology
Shyong Quan Yap, William D. Kim, Robert J. Huber
Summary: The transmembrane protein MFSD8 plays a crucial role in transporting chloride ions across the lysosomal membrane and is associated with CLN7 disease. The ortholog of human MFSD8 in D. discoideum, called mfsd8, is involved in endocytosis, protein secretion, and growth and early development processes. Loss of mfsd8 in D. discoideum leads to increased proliferation, pinocytosis, and cell size, as well as inhibition of cytokinesis and altered enzyme activity.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Clinical Neurology
Paolo Bonanni, Antonio Gambardella, Paolo Tinuper, Benedetto Acone, Emilio Perucca, Giangennaro Coppola
Summary: Consensus was reached on the suitability of Perampanel as a first add-on based on its positive impact on quality of life, efficacy, tolerability, ease of use, and unique mechanism of action. However, potential unfavorable factors include slow dose titration, behavioral adverse effects, lack of safety information during pregnancy, and limited access to plasma Perampanel levels.
Review
Clinical Neurology
John R. Ostergaard
Summary: This study discusses a rational approach to prevent and/or treat non-epileptic episodes in patients with juvenile neuronal ceroid lipofuscinosis (JNCL, CLN3 disease). Based on the knowledge of triggering factors and the impact of CLN3 disease on neural anxiety/fear circuit, the study suggests increasing the threshold of discomfort impact, modulating the imbalance of central network inhibition and excitation, and restoring the balance between sympathetic and parasympathetic neural systems.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Wei-En Johnny Tseng, Chun-Wei Chang, Jawl-Shan Hwang, Po-Chuan Ko, Chun-Jing Liu, Siew-Na Lim
Summary: Long-term use of enzyme-inhibiting antiseizure medications (ASMs) is associated with an increased risk of developing type 2 diabetes. This study provides guidance for individuals requiring long-term ASM therapy.
Article
Genetics & Heredity
Juan Yang, Xiaoting Ding, Shasha Meng, Jinhua Cai, Weihui Zhou
Summary: Biallelic loss-of-function mutation of the CTSD gene is considered a cause of CLN10 disease, but the pathogenicity of a specific variant remains controversial.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
I. Basak, H. E. Wicky, K. O. McDonald, J. B. Xu, J. E. Palmer, H. L. Best, S. Lefrancois, S. Y. Lee, L. Schoderboeck, S. M. Hughes
Summary: Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is an incurable childhood brain disease caused by mutations in thirteen CLN genes. Mutations in the CLN5 gene lead to a form of variant late-infantile NCL, with widespread protein expression in various tissues. Research on CLN5 helps to understand lysosomal biology and develop efficient therapies for CLN5 Batten disease.
CELLULAR AND MOLECULAR LIFE SCIENCES
(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)
Review
Biochemistry & Molecular Biology
Chia-Jui Hsu, Lee-Chin Wong, Wang-Tso Lee
Summary: This review examines the clinical characteristics, clinical evidence, and genetic studies in vitro as well as animal studies regarding immune dysfunction in Tourette syndrome, suggesting that autoimmune dysfunction may play a significant role in the pathogenesis of Tourette syndrome and related neuropsychiatric disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Multidisciplinary Sciences
Tz-Yun Jan, Lee-Chin Wong, Ming-Tao Yang, Chien-Feng Judith Huang, Chia-Jui Hsu, Steven Shinn-Forng Peng, Wen-Yih Isaac Tseng, Wang-Tso Lee
Summary: Individuals with Rett syndrome commonly exhibit Parkinsonian features and dystonia during their teenage years, with abnormal iron accumulation in deep gray matter. Age showed moderate to high negative correlations with iron accumulation, while dystonia scales were correlated with iron accumulation in dopaminergic system and related grey matter. This study suggests that increased iron deposition may partly explain the gradually increased dystonia in Rett syndrome patients.
SCIENTIFIC REPORTS
(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)