Article
Clinical Neurology
Kathrin Muller, Ki-Wook Oh, Angelica Nordin, Sudhan Panthi, Seung Hyun Kim, Frida Nordin, Axel Freischmidt, Albert C. Ludolph, Chang Seok Ki, Karin Forsberg, Jochen Weishaupt, Young-Eun Kim, Peter Munch Andersen
Summary: De novo mutations in SOD1 have been identified as a cause of sporadic ALS, potentially impacting both isolated cases and smaller familial groups. While the exact origin of these mutations remains uncertain, the findings suggest the importance of genetic counseling and screening for all ALS patients to potentially benefit from personalized therapy.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Clinical Neurology
Maurizio Grassano, Andrea Calvo, Cristina Moglia, Luca Sbaiz, Maura Brunetti, Marco Barberis, Federico Casale, Umberto Manera, Rosario Vasta, Antonio Canosa, Sandra D'Alfonso, Lucia Corrado, Letizia Mazzini, Clifton Dalgard, Ramita Karra, Ruth Chia, Bryan Traynor, Adriano Chio
Summary: This study evaluated the diagnostic yield and advantages of whole-genome sequencing (WGS) as a standard diagnostic test for Amyotrophic Lateral Sclerosis (ALS). The results showed that WGS had a high diagnostic yield and lower cost compared to conventional strategies. It also identified differences in mutation rates between early-onset and late-onset ALS patients, and found additional genetic factors that worsen prognosis. Therefore, WGS should be considered as the standard genetic testing for all ALS patients.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Clinical Neurology
Safoora B. Syeda, Museer A. Lone, Payam Mohassel, Sandra Donkervoort, Pinki Munot, Marcondes C. Franca, Juan Eli Galarza-Brito, Matthias Eckenweiler, Alexander Asamoah, Kenneth Gable, Anirban Majumdar, Anke Schumann, Sita D. Gupta, Arpita Lakhotia, Perry B. Shieh, A. Reghan Foley, Kelly E. Jackson, Katherine R. Chao, Thomas L. Winder, Francesco Catapano, Lucy Feng, Janbernd Kirschner, Francesco Muntoni, Teresa M. Dunn, Thorsten Hornemann, Carsten G. Bonnemann
Summary: This study reports six patients from six independent families with juvenile amyotrophic lateral sclerosis (ALS) caused by a specific variant in the SPTLC2 gene. The findings confirm the importance of sphingolipid metabolism alterations in the pathogenesis of motor neuron diseases and suggest that avoiding serine supplementation may be a therapeutic strategy for SPT-associated ALS.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Ruestem Yilmaz, Torsten Grehl, Lukas Eckrich, Ines Marschalkowski, Kanchi Weishaupt, Ivan Valkadinov, Melita Simic, David Brenner, Peter M. Andersen, Joachim Wolf, Jochen H. Weishaupt
Summary: Among ALS patients in Germany, around 8.9% have a C9orf72 hexanucleotide repeat expansion mutation, while the SOD1 mutation in patients with spinal muscular atrophy is within the expected range. These findings are crucial for the development of gene-specific therapies.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Editorial Material
Clinical Neurology
Danielle M. Andrade
Summary: Precision medicine has both current applications and future prospects in the treatment of epilepsy.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2021)
Article
Clinical Neurology
Yun Tian, Lu Zhou, Jing Gao, Bin Jiao, Sizhe Zhang, Qiao Xiao, Jin Xue, Ying Wang, Hui Liang, Yaling Liu, Guang Ji, Chenhui Mao, Caiyan Liu, Liling Dong, Long Zhang, Shugang Zhang, Jiping Yi, Guohua Zhao, Yingying Luo, Qiying Sun, Yafang Zhou, Fang Yi, Xiaoyu Chen, Chaojun Zhou, Nina Xie, Mengchuan Luo, Lingyan Yao, Yacen Hu, Mengqi Zhang, Qiuming Zeng, Liangjuan Fang, Hong-Yu Long, Yuanyuan Xie, Ling Weng, Si Chen, Juan Du, Qian Xu, Li Feng, Qing Huang, Xuan Hou, Junpu Wang, Bin Xie, Lin Zhou, Lili Long, Ji-feng Guo, Junling Wang, Xinxiang Yan, Hong Jiang, Hongwei Xu, Ranhui Duan, Beisha Tang, Lu Shen
Summary: This study characterized the clinical features of NOTCH2NLC-related NIID in China, including the common symptoms and subtypes. The results showed that NIID is not rare, but it is often misdiagnosed as other diseases.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Medicine, General & Internal
Qi Shi, Kang Xiao, Cao Chen, Wei Zhou, Li-Ping Gao, Yue-Zhang Wu, Yuan Wang, Chao Hu, Chen Gao, Xiao-Ping Dong
Summary: This study compared the features of Chinese patients with E196A and E196K mutations in genetic CJD using data from the Chinese National CJD Surveillance System. It found that the E196K cases had an older age of onset and a shorter survival time compared to E196A cases. Both subtypes of genetic CJD were clinically more similar to sCJD, with E196A cases exhibiting more major symptoms and E196K cases primarily showing dementia and mental problems.
Article
Clinical Neurology
Tatsuhiko Naito, Wataru Satake, Pei-Chieng Cha, Kazuhiro Kobayashi, Miho Murata, Tatsushi Toda
Summary: This study found that the efficacy of zonisamide in Parkinson's disease patients is associated with glutamate-related synaptic modulation and p53-mediated dopaminergic neural loss. Transcriptional differences can be used to predict patient response to zonisamide before treatment.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Review
Clinical Neurology
Martje E. van Egmond, Tjerk J. Lagrand, Gintaute Lizaitiene, Marenka Smit, Marina A. J. Tijssen
Summary: Adult-onset dystonia can be acquired, inherited or idiopathic. Recent advances in neuroimmunology and genetic diagnostics have increased our understanding of the disease. To ensure early diagnosis and prevent unnecessary investigations, a new five-step diagnostic approach has been designed. The approach focuses on early identification of treatable forms of dystonia, both acquired and genetic. This novel diagnostic method can aid clinicians in deciding when to perform additional tests, including genetic testing, and facilitate timely treatment.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Review
Biochemistry & Molecular Biology
Wei-De Lin, Fuu-Jen Tsai, I-Ching Chou
Summary: Gilles de la Tourette syndrome (TS) is a common childhood-onset psychiatric disorder characterized by persistent motor and vocal tics. Genetic factors and environmental factors play a role in the etiology of TS, and several genes and loci have been associated with the disorder. Copy number variations are considered significant sources of mutations in TS. Further research is needed to understand the underlying mechanisms and improve prognosis and treatment options for TS.
BIOMEDICAL JOURNAL
(2022)
Article
Biochemistry & Molecular Biology
Marcus P. S. Dekens, Bruno M. Fontinha, Miguel Gallach, Sandra Pfluegler, Kristin Tessmar-Raible
Summary: Studies have shown that melanopsin plays a crucial role in regulating locomotor activity in diurnal zebrafish by inhibiting the melatonin pathway. Additionally, light signals can induce locomotor activity in a intensity-dependent manner during the diurnal wake state of zebrafish.
Review
Biochemistry & Molecular Biology
Arun Meyyazhagan, Antonio Orlacchio
Summary: This review provides an overview of hereditary spastic paraplegia (HSP), including its clinical manifestations, etiology, diagnosis, and treatment methods. Although modern medical interventions have helped, there is still room for improvement in the treatment of this disorder.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Luca Marsili, Jennifer Sharma, Alberto J. Espay, Alice Migazzi, Elhusseini Abdelghany, Emily J. Hill, Kevin R. Duque, Matthew C. Hagen, Christopher D. Stephen, Gabor G. Kovacs, Anthony E. Lang, Marios Hadjivassiliou, Manuela Basso, Marcelo A. Kauffman, Andrea Sturchio
Summary: This study evaluated a case of a 60-year-old woman with a progressive dystonia-ataxia syndrome initially suspected to be Niemann-Pick disease Type C, but was later found to be progressive supranuclear palsy (PSP). Whole-exome sequencing revealed a new TGM6 variant associated with spinocerebellar ataxia type 35. The novel TGM6 variant reduced transglutaminase activity, suggesting a potential pathogenic role in the development of PSP pathology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Kaori Ueda, Takuji Kurimoto, Fumio Takano, Yusuke Murai, Sotaro Mori, Mari Sakamoto, Takayuki Nagai, Yuko Yamada-Nakanishi, Makoto Nakamura
Summary: The study aims to evaluate the efficacy and safety of SES in LHON patients carrying the G11778A mutation through a more frequent stimulation protocol. It is a single-arm, open-labelled, non-randomised clinical study lasting for 12 weeks, with primary outcome measure being best-corrected visual acuity (BCVA) and secondary outcome measures including visual field sensitivity test, among others.
Article
Clinical Neurology
Jun Pyo Kim, Bo-Hyun Kim, Paula J. Bice, Sang Won Seo, David A. Bennett, Andrew J. Saykin, Kwangsik Nho
Summary: The study identified an association between the BMI1 gene variant rs17415557 and levels of Aβ(1-42) in cerebrospinal fluid as well as cognitive decline rates in AD patients, suggesting a potential protective mechanism against AD pathogenesis.
ALZHEIMERS RESEARCH & THERAPY
(2021)
Article
Clinical Neurology
Karin Forsberg, Karin Graffmo, Bente Pakkenberg, Markus Weber, Martin Nielsen, Stefan Marklund, Thomas Brannstrom, Peter Munch Andersen
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2019)
Article
Medicine, General & Internal
Timothy Miller, Merit Cudkowicz, Pamela J. Shaw, Peter M. Andersen, Nazem Atassi, Robert C. Bucelli, Angela Genge, Jonathan Glass, Shafeeq Ladha, Albert L. Ludolph, Nicholas J. Maragakis, Christopher J. McDermott, Alan Pestronk, John Ravits, Francois Salachas, Randall Trudell, Philip Van Damme, Lorne Zinman, C. Frank Bennett, Roger Lane, Alfred Sandrock, Heiko Runz, Danielle Graham, Hani Houshyar, Alexander McCampbell, Ivan Nestorov, Ih Chang, Manjit McNeill, Laura Fanning, Stephanie Fradette, Toby A. Ferguson
NEW ENGLAND JOURNAL OF MEDICINE
(2020)
Article
Clinical Neurology
Dorothee E. Lule, Hans-Peter Mueller, Julia Finsel, Patrick Weydt, Antje Knehr, Ivar Winroth, Peter Andersen, Jochen Weishaupt, Ingo Uttner, Jan Kassubek, Albert C. Ludolph
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2020)
Letter
Clinical Neurology
Mamede deCarvalho, Marta Gromicho, Peter Andersen, Julian Grosskreutz, Magdalena Kuzma-Kozakiewicz, Susanne Petri, Hilmi Uysal, Susana Pinto
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2021)
Article
Clinical Neurology
Peter M. Andersen, Magdalena Kuzma-Kozakiewicz, Juergen Keller, Anna Maksymowicz-Sliwinska, Krzysztof Barc, Krzysztof Nieporecki, Julia Finsel, Cynthia Vazquez, Olga Helczyk, Katharina Linse, Ann-Cristin Haggstrom, Erica Stenberg, Olof Semb, Katarzyna Ciecwierska, Natalia Szejko, Ingo Uttner, Andreas Herrmann, Susanne Petri, Thomas Meyer, Albert C. Ludolph, Dorothee Lule
Summary: The study found that caregivers significantly underestimated patients' well-being in Germany and Poland. In Sweden, there were just as many caregivers who underestimated and overestimated well-being. Despite cultural differences, there was a clear discrepancy between patients' and caregivers' perspectives on patients' well-being and preferences towards life.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2022)
Editorial Material
Clinical Neurology
Kristiana Salmon, Matthew C. Kiernan, Seung H. Kim, Peter M. Andersen, Adriano Chio, Leonard H. van den Berg, Philip Van Damme, Ammar Al-Chalabi, Patricia Lillo, Jinsy A. Andrews, Angela Genge
Article
Multidisciplinary Sciences
Arvin Behzadi, Fani Pujol-Calderon, Anton E. Tjust, Anna Wuolikainen, Kina Hoglund, Karin Forsberg, Erik Portelius, Kaj Blennow, Henrik Zetterberg, Peter Munch Andersen
Summary: Elevated levels of CSF NFL, CSF pNFH, and plasma NFL are significantly associated with ALS, providing diagnostic value in differentiating ALS from other neurological diseases. Plasma NFL levels can help differentiate between clinical and genetic subgroups of ALS. Survival rate is negatively correlated with all three biomarkers.
SCIENTIFIC REPORTS
(2021)
Editorial Material
Clinical Neurology
Richard S. Finkel, Michael Benatar
Summary: Finkel and Benatar discuss the ambiguity of the term 'pre-symptomatic' in characterizing infants at genetic risk for spinal muscular atrophy, and propose a new conceptual framework.
Article
Clinical Neurology
Michael Benatar, Volkan Granit, Peter M. Andersen, Anne-Laure Grignon, Caroline McHutchison, Stephanie Cosentino, Andrea Malaspina, Joanne Wuu
Summary: Amyotrophic lateral sclerosis (ALS) may evolve along a continuum and have a prodromal phase of mild motor impairment (MMI) that is often missed. Through studying pre-symptomatic gene mutation carriers, it is observed that mild motor impairment is an observable state that precedes clinically manifest ALS, providing potential for diagnosis and early therapeutic intervention.
Article
Cell Biology
Tina A. Schrader, Ruth E. Carmichael, Markus Islinger, Joseph L. Costello, Christian Hacker, Nina A. Bonekamp, Jochen H. Weishaupt, Peter M. Andersen, Michael Schrader
Summary: This study reveals a novel pathway for peroxisome division and identifies the role of FIS1 in peroxisome division.
JOURNAL OF CELL SCIENCE
(2022)
Review
Clinical Neurology
Michael Benatar, Joanne Wuu, Martin R. Turner
Summary: Interest in ALS biomarkers has increased significantly in the past 25 years, with the hope of using them to develop effective therapies. Neurofilament light chain (NfL) has emerged as a potential biomarker for ALS therapy development. The study discusses the evidence supporting the use of NfL in different clinical contexts, concluding that it can serve as a risk biomarker, a prognostic biomarker, and a pharmacodynamic biomarker.
Article
Biochemistry & Molecular Biology
Ulrika Nordstrom, Lisa Lang, Elaheh Ekhtiari Bidhendi, Per Zetterstroem, Mikael Oliveberg, Jens Danielsson, Peter M. Andersen, Stefan L. Marklund
Summary: This study identified two hSOD1 aggregate strains that can spread and cause fatal paralysis in adult transgenic mice. The spreading of these aggregates could be a primary disease mechanism in SOD1-induced ALS. The structure and amount of aggregates formed varied between different hSOD1 mutants and different cell lines. It is suggested that pathogenesis and therapeutic development should be conducted in models that replicate aggregate structures forming in the central nervous system.
JOURNAL OF NEUROCHEMISTRY
(2023)
Article
Clinical Neurology
Karin M. Forsberg, Karin S. Graffmo, Erica Stenvall, Naima Tabikh, Stefan L. Marklund, Thomas Brannstrom, Peter M. Andersen
Summary: The D90A mutation in the SOD1 gene is associated with atypical features in amyotrophic lateral sclerosis, including slowly evolving motor symptoms, recessive heredity, and potential involvement of sensory, autonomic, and urinary bladder functions. This study reveals that neuropathological changes in patients with homozygous D90A mutation extend beyond the motor system to include cognitive and sensory cortical areas, but do not affect non-nervous organs.
ACTA NEUROPATHOLOGICA
(2023)
Letter
Clinical Neurology
Michael Benatar, Ammar Al-Chalabi, Anita Crawley, Joanne Wuu
