Review
Clinical Neurology
Matthew Silsby, Eva L. Feldman, Richard D. Dortch, Alison Roth, Simon Haroutounian, Yusuf A. Rajabally, Steve Vucic, Michael E. Shy, Anne Louise Oaklander, Neil G. Simon
Summary: Distal sensory polyneuropathy (DSP) is characterized by length-dependent, sensory-predominant symptoms and signs, including chronic pain, tingling, and poor balance. It can be challenging to diagnose and manage. Recent advances in understanding the causes and potential therapies for DSP are discussed in this review.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Review
Clinical Neurology
Sean W. Willemse, Peter Harley, Ruben P. A. van Eijk, Koen C. Demaegd, Pavol Zelina, R. Jeroen Pasterkamp, Philip van Damme, Caroline Ingre, Wouter van Rheenen, Jan H. Veldink, Matthew C. Kiernan, Ammar Al-Chalabi, Leonard H. van den Berg, Pietro Fratta, Michael A. van Es
Summary: Amyotrophic lateral sclerosis (ALS) is a deadly neurodegenerative disease with limited treatment options. A specific gene polymorphism in the UNC13A gene has been found to increase the risk of ALS and frontotemporal dementia (FTD), and can modify the disease phenotype in ALS patients. UNC13A is involved in maintaining synaptic active zones and its depletion leads to impaired neurotransmission. Recent discoveries have identified UNC13A as a potential therapeutic target, with ongoing trials using lithium carbonate and considering antisense oligonucleotides. Knowledge of UNC13A's distinct phenotype is important for future clinical trials.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
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
Maike F. Dohrn, Danique Beijer, Museer A. Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach, Sandra Donkervoort, A. Reghan Foley, Aubrey Rose, Michael Lyons, Raymond J. Louie, Kenneth Gable, Teresa Dunn, Sitong Chen, Matt C. Danzi, Matthis Synofzik, Carsten G. Boennemann, A. Nazli Basak, Thorsten Hornemann, Stephan Zuchner
Summary: This study identified gain-of-function mutations in SPTLC2 in juvenile ALS patients, leading to dysregulated sphingolipid synthesis and a key role in the pathogenesis of Mendelian periodic paralysis. This finding may open new therapeutic avenues for motor neuron diseases.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Menelaos Pipis, Andrea Cortese, James M. Polke, Roy Poh, Jana Vandrovcova, Matilde Laura, Mariola Skorupinska, Arnaud Jacquier, Raul Juntas-Morales, Philippe Latour, Philippe Petiot, Guilhem Sole, Yves Fromes, Sachit Shah, Julian Blake, Byung-Ok Choi, Ki Wha Chung, Tanya Stojkovic, Alexander M. Rossor, Mary M. Reilly
Summary: This study reveals the unique phenotype of CMT2CC, which is more similar to spinal muscular atrophy than classic CMT. The disease progresses rapidly, requiring wheelchair use at an early stage and exhibiting early ankle plantarflexion weakness in a significant portion of patients.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Food Science & Technology
Alessandro Picelli, Andrea Santamato, Michela Cosma, Alessio Baricich, Carmelo Chisari, Marzia Millevolte, Cristina Del Prete, Ilenia Mazzu, Paolo Girardi, Nicola Smania
Summary: This study aimed to investigate the relationship between the timing of BoNT-A injection and treatment outcomes in PSS patients. The results showed that initiating BoNT-A treatment within 3 months post-stroke can lead to greater reduction in muscle tone at 1 and 3 months follow-up.
Article
Psychology, Multidisciplinary
Yulia Tyumeneva, Kseniya Vergeles
Summary: The study found that about half of the participants exhibited violations of transitivity when comparing different motives in terms of their importance to learning. However, an ordinal structure of motivation can be found only when levels of motives differ noticeably.
FRONTIERS IN PSYCHOLOGY
(2021)
Review
Clinical Neurology
Stefano Tamburin, Mirko Filippetti, Elisa Mantovani, Nicola Smania, Alessandro Picelli
Summary: Spasticity is a common sequela of brain and spinal cord injury, impacting quality of life. Recent studies have proposed new definitions of spasticity, but further research is needed. Treatment-wise, cannabinoids are effective in multiple sclerosis spasticity, while botulinum neurotoxin injection is the first-line therapy for focal spasticity.
CURRENT OPINION IN NEUROLOGY
(2022)
Review
Psychiatry
Aparna Das, Kalpana P. Padala, Christina G. Crawford, Alan Teo, Diana M. Mendez, Olive A. Phillips, Benjamin C. Wright, Samuel House, Prasad R. Padala
Summary: The COVID-19 pandemic has exacerbated social isolation and loneliness, with the UCLA 3-item loneliness scale being the most commonly used in research studies on these constructs in the past two decades.
PSYCHIATRY RESEARCH
(2021)
Article
Clinical Neurology
Christian Rummey, Ian H. Harding, Martin B. Delatycki, Geneieve Tai, Thiago Rezende, Louise A. Corben
Summary: The ever-growing body of research on ataxia presents opportunities for large-scale meta-analyses, systematic reviews, and data aggregation. This study applied different standardized scales to assess the severity of Friedreich's ataxia, providing regression coefficients for interconversion between scales and discussing the reliability of this approach as well as the different sensitivities of the scales to disease progression.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Review
Medicine, General & Internal
Cristina Morelli, Gessica Ingrasciotta, Daniel Jacoby, Ahmad Masri, Iacopo Olivotto
Summary: The progress in science and technologies has allowed for the development of innovative drug molecules targeting the underlying pathophysiology of diseases. This has led to potential applications in heart muscle disease, heart failure, and skeletal muscle conditions. Several drugs, such as omecamtiv mecarbil, mavacamten, and aficamten, have shown promise in clinical trials, demonstrating efficacy in improving cardiac function and reducing heart failure-related events.
EUROPEAN JOURNAL OF INTERNAL MEDICINE
(2022)
Article
Medicine, General & Internal
Allison Lamond, David Buckley, Jennifer O'Dea, Lesley Turner
Summary: This report examines two unrelated patients with a rare form of presynaptic congenital myasthenic syndrome, showing diverse clinical presentations. Whole exome sequencing revealed that both patients had the same likely pathogenic biallelic variants in the SLC18A3 gene, which have not been previously described in the literature. The study highlights the variability in clinical manifestations and disease progression in children with mutations in SLC18A3, leading to presynaptic congenital myasthenic syndrome through VAChT deficiency.
Article
Food Science & Technology
Sukanya Wichchukit, Sean LaFond, Michael O'Mahony
Summary: The study found that subjects performed significantly better using the rank-rating protocol than the serial monadic protocol when evaluating their ability to use numerical scales. Penalization occurred when using 9-point scales, due to insufficient categories to represent the heights of all 12 columns, introducing the concept of 'sufficient space'.
FOOD RESEARCH INTERNATIONAL
(2021)
Article
Anesthesiology
Pramote Euasobhon, Raviwon Atisook, Kulsiri Bumrungchatudom, Nantthasorn Zinboonyahgoon, Nattha Saisavoey, Mark P. P. Jensen
Summary: This study examined the stability and validity of four commonly used pain intensity scales (VAS, VRS-6, NRS-11, FPS-R). The results showed that NRS-11 and VAS had better test-retest stability, and NRS-11 demonstrated the highest sensitivity. FPS-R could be considered as an alternative for individuals who may have difficulty understanding or using NRS-11.
Review
Clinical Neurology
Davide Martino, Vikram Karnik, Roongroj A. Bhidayasiri, Deborah A. A. Hall, Robert A. Hauser, Antonella M. Macerollo, Tamara M. Pringsheim, Daniel A. Truong, Stewart A. Factor, Matej Skorvanek, Anette Schrag, IPMDS Rating Scales Review Comm
Summary: An International Parkinson and Movement Disorder Society subcommittee aimed to rate the psychometric quality of severity and screening instruments for antipsychotic-associated movement disorders. They identified 23 instruments, of which 7 severity rating instruments and 3 screening instruments were recommended with caveats due to insufficient psychometric properties and long duration of administration. New psychometric studies and revision of existing instruments are recommended to address these caveats and improve the clarity of their nomenclature.
MOVEMENT DISORDERS
(2023)