Journal of the Neurological Sciences This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Diaphragm weakness in late-onset Pompe disease: A complex interplay between lower motor neuron and muscle fibre degeneration
Late-onset Pompe disease (LOPD) patients may still need ventilation support at some point of their disease course, despite regular recombinant human alglucosidase alfa treatment. This suggest that other pathophysiological mechanisms than muscle fibre lesion can contribute to the respiratory failure process. We investigate through neurophysiology whether spinal phrenic motor neuron dysfunction could contribute to diaphragm weakness in LOPD patients. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 18, 2024 Category: Neurology Authors: Miguel Oliveira Santos, Sara Domingues, Catarina Falc ão de Campos, Susana Moreira, Mamede de Carvalho Tags: Clinical short communication Source Type: research

Novel findings in a Swedish primary familial brain calcification cohort
Brain calcifications are frequent findings on imaging. In a small proportion of cases, these calcifications are associated with pathogenic gene variants, hence termed familial brain calcification (PFBC). The clinical penetrance is incomplete and phenotypic variability is substantial. This paper aims to characterize a Swedish PFBC cohort including 25 patients: 20 from seven families and five sporadic cases. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 17, 2024 Category: Neurology Authors: Stefan Sennf ält, Peter Gustavsson, Helena Malmgren, Eric Gilland, Håkan Almqvist, Mikael Oscarson, Martin Engvall, Ingemar Björkhem, Daniel Nilsson, Kristina Lagerstedt-Robinson, Per Svenningsson, Martin Paucar Source Type: research

Ten-year fracture risk in Japanese patients with myasthenia gravis: A comprehensive assessment using the fracture risk assessment tool
Myasthenia gravis (MG) is an immune disorder that causes muscle weakness with an increasing prevalence, particularly among the elderly in Japan. Glucocorticoid treatment for MG is problematic for bone health because of reduced bone density and increased fracture risk. The fracture risk assessment tool (FRAX ®) can estimate fracture risk, but its applicability in patients with MG remains uncertain. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 16, 2024 Category: Neurology Authors: Shingo Konno, Takafumi Uchi, Hideo Kihara, Hideki Sugimoto Source Type: research

Emotion recognition in amyotrophic lateral sclerosis in a dynamic environment
The aim of our study was to measure the ability of ALS patients to process dynamic facial expressions as compared to a control group of healthy subjects and to correlate this ability in ALS patients with neuropsychological, clinical and neurological measures of the disease. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 16, 2024 Category: Neurology Authors: Marco Ceccanti, Laura Libonati, Federica Moret, Edoardo D'Andrea, Maria Cristina Gori, Francesco Saverio Bersani, Maurizio Inghilleri, Chiara Cambieri Source Type: research

Adalimumab as treatment for neurosarcoidosis: A case series
Sarcoidosis is a disease characterized by non-caseating granulomas that can involve the central nervous system as neurosarcoidosis. This challenging disease is currently managed with high dose steroids, and sometimes the addition of infliximab. Other TNA-alpha inhibitors have not been studied as rigorously. We discovered ten neurosarcoidosis patients who were on an alternative TNA-alpha inhibitor, adalimumab. Eight patients had a positive response clinically and radiographically to adalimumab. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 15, 2024 Category: Neurology Authors: Jeffrey Shen, Megumi Sugita, Andrea Linares-Lopez, Suma Shah, Christopher Eckstein, Elijah Lackey Tags: Clinical short communication Source Type: research

Editorial Board
(Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 13, 2024 Category: Neurology Source Type: research

Serum Neurofilament light chain, inflammatory markers, and kynurenine metabolites in patients with persistent post-concussion symptoms: A cohort study
This study aims to investigate these biomarkers in PPCS patients, elucidating their relevance in the prolonged phase of concussion. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 13, 2024 Category: Neurology Authors: Peter Preben Eggertsen, Johan Palmfeldt, Asger Roer Pedersen, Oana-Veronica Frederiksen, Rikke Katrine Jentoft Olsen, J ørgen Feldbæk Nielsen Source Type: research

Clinical and genetic features of dominant Essential Tremor in Tuscany, Italy: FUS, CAMTA1, ATXN1 and beyond
Essential Tremor (ET) is one of the most common neurological disorders. In most instances ET is inherited as an autosomal dominant trait with age-related penetrance (virtually complete in advanced age); however, ET genetics remains elusive. The current study aims to identify possibly pathogenic genetic variants in a group of well-characterized ET families. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 12, 2024 Category: Neurology Authors: D. Orsucci, A. Tessa, E. Caldarazzo Ienco, R. Trovato, G. Natale, G. Bilancieri, M. Giuntini, A. Napolitano, S. Salvetti, M. Vista, F.M. Santorelli Tags: Clinical short communication Source Type: research

Clinical significance of intracranial hemorrhage after thrombectomy detected solely by magnetic resonance imaging and not by computed tomography
This study investigated the clinical features of ICH after MT detected solely by MRI. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 12, 2024 Category: Neurology Authors: Kentaro Suzuki, Takehiro Katano, Shinichiro Numao, Yuji Nishi, Akihito Kutsuna, Takuya Kanamaru, Tomonari Saito, Junya Aoki, Yasuhiro Nishiyama, Kazumi Kimura Source Type: research

The search for blood-biomarkers of persistent post-concussion symptoms
Prolonged symptoms following concussion, commonly called persistent post-concussion symptoms (PPCS), are a major public health burden that occur in up to an estimated 30% of all individuals that experience a concussion (a form of mild traumatic brain injury; mTBI) [1]. Despite this prevalence, the underlying pathophysiology and mechanism of PPCS are still unknown. This lack of knowledge significantly impairs clinician's abilities to identify patients at risk for developing PPCS and objectively monitor patients with PPCS and has also prevented development of therapeutics to reduce symptoms and thus limit the significant per...
Source: Journal of the Neurological Sciences - April 12, 2024 Category: Neurology Authors: Timothy B. Meier Source Type: research

Corrigendum to “Incorporating health equity in the neurology curriculum: Our experience” [Journal of the Neurological Science (2023) 120665]
The authors regret that we neglected to include LaShyra Nolen as an author. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 11, 2024 Category: Neurology Authors: Tamara B. Kaplan, Christopher Doughty, LaShyra Nolan, Joshua Budhu Source Type: research

Body representation after a stroke in the brainstem
The objective of this study was to determine the effects of a brainstem stroke on body representation in horizontal and frontal plane, and links with impaired posture and neuroanatomy. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 11, 2024 Category: Neurology Authors: Chlo é Émard-Lamy, Laura Bergé, Arnaud Saj Tags: Clinical short communication Source Type: research

Comparative analysis of energy expenditure and costs in neuroimaging
Over the past several years there has been a growing awareness of energy usage in industrial and household devices, leading to the adoption of both energy-saving modes as well as implementation of regulations to set energy efficiency standards [1,4]. Despite strides in energy efficiency in the residential and office sectors, the healthcare sector has lagged in implementation of similar initiatives [1]. One such area that has seen a rapid increase in healthcare-associated energy usage and spending without a focus on resource saving initiatives is the use of advanced imaging like CT and MRI [1]. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 11, 2024 Category: Neurology Authors: William J. Signorile, Amit Mahajan, Robert K. Fulbright, Adeel S. Zubair Source Type: research

Neurological advocacy: Empowering the next generation of neurologists
In light of last month's publication of the Global Burden of Neurological Disease [1], and in consideration of the 2022 WHO Intersectoral Global Action Plan (IGAP) [2,3], the mandate to act on neurological disorders has never been greater. The World Federation of Neurology has just published twelve recommendations on strengthening neurological advocacy: the way of transitioning from evidence to action [4]. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 11, 2024 Category: Neurology Authors: Arina A. Tamborska, Justin T. Jordan, Benedict D. Michael, Mayowa O. Owolabi Source Type: research

Use of the concussion check protocol for concussion assessment in a female soccer team over two consecutive seasons in New Zealand
Address deficiencies in access to sports sideline medical care by using a Concussion Check Protocol (CCP) for non-medically-trained people. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 10, 2024 Category: Neurology Authors: D. King, P.A. Hume, T.N. Clark, J.V. Wethe Source Type: research