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Source: Journal of the Neurological Sciences
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Total 73 results found since Jan 2013.
Reversible cerebral artery constriction accompanied with stroke-like episode in MELAS: A case series
The pathophysiology of stroke-like episode (SLE) in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) was uncertain, though mitochondrial metabolic crisis of cortical neurons and mitochondrial proliferation in small vessels of brain have been considered. However, the involvement of major cerebral vessels was debated. We aimed to investigate whether major cerebral vessels participate in SLE.
Source: Journal of the Neurological Sciences - July 19, 2022 Category: Neurology Authors: Yuying Zhao, Xiaolin Yu, Kunqian Ji, Yan Lin, Xuebi Xu, Wei Wang, Chuanzhu Yan Source Type: research
Functional and enzymatic improvement during pregnancy in McArdle's disease
McArdle's disease (glycogen storage disease type V) is an inherited metabolic myopathy with an estimated prevalence of 1 in 50,000 –200,000 in the United States. The aetiology results from genetic mutations of the glycogen phosphorylase enzyme (PGYM) - on chromosome 11q13, resulting in a lack or dysfunction of the muscle glycogen phosphorylase (myophosphorylase), which metabolizes glycogen stored in the muscle and provides gl ucose-1-phosphate to generate energy in the form of ATP during exercise [1].
Source: Journal of the Neurological Sciences - January 21, 2022 Category: Neurology Authors: Andr é Luiz Pereira Martins, Stefany Elias, Alexandra Latini, Maria Luiza Benevides, Jean Costa Nunes Source Type: research
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy
We present the case of an Italian family, whose affected members showed different degrees of muscle involvement and histopathological features compatible with congenital myopathies (CM), in the presence of a rare CACNA1S heterozygous mutation. CMs are a heterogeneous group of genetic muscle disorders ranging from severe and life-threatening neonatal manifestations to adult-onset milder forms [1] and classified according to specific histological and ultrastructural muscle biopsy features [2]. Main clinical characteristics include hypotonia and weakness of proximal and facial muscles, often associated with respiratory failur...
Source: Journal of the Neurological Sciences - November 3, 2021 Category: Neurology Authors: Eleonora Mauri, Daniela Piga, Serena Pagliarani, Francesca Magri, Arianna Manini, Monica Sciacco, Michela Ripolone, Laura Napoli, Linda Borellini, Claudia Cinnante, Denise Cassandrini, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi, Alessandra Govoni Tags: Letter to the Editor Source Type: research
Glucocorticoids for therapeutic immunosuppression: Clinical pearls for the practicing neurologist
Given widespread use of glucocorticoid therapy in neurologic disease, understanding glucocorticoid pharmacology and risk is paramount for the practicing neurologist. While dosing and tapering regimens vary depending on the neurological disease and indication being treated, there are important general principles of glucocorticoid prescribing and monitoring that can guide clinical decision-making. Glucocorticoid-related toxicities can occur across multiple organ systems, including hypertension; dyslipidemia; weight gain; hyperglycemia; osteoporosis and avascular necrosis; myopathy; gastrointestinal bleeding; infection; and n...
Source: Journal of the Neurological Sciences - September 23, 2021 Category: Neurology Authors: Alexandra Galati, E. Sherwood Brown, Riley Bove, Anand Vaidya, Jeffrey Gelfand Tags: Review Article Source Type: research
The clinical spectrum of multisystem proteinopathy: Data from a neurodegenerative cohort.
“Multisystemic Proteinopathy” (MSP) is a genetic disorder that can affect muscle, bone, central and peripheral nervous system [1–3], associated with four causative genes, namely Valosin Containing Protein (VCP), Heterogeneous Nuclear Ribonucleoprotein A2/B1 (HNRNPA2B1), Heterogeneous Nuclear R ibonucleoprotein A1 (HNRNPA1) and Sequestosome 1 (SQSTM1). Classical phenotypes include Frontotemporal dementia (FTD), Paget disease of the bone (PBD) and inclusion body myopathy (IBM), mentioned together in the acronym “IBMPFD”, that share common pathophysiology.
Source: Journal of the Neurological Sciences - May 3, 2021 Category: Neurology Authors: Veria Vacchiano, Nicola Mometto, Anna Bartoletti-Stella, Giovanni Rizzo, Samir Abu-Rumeileh, Fabrizio Salvi, Piero Parchi, Rocco Liguori, Sabina Capellari Tags: Letter to the Editor Source Type: research
The clinical spectrum of multisystem proteinopathy: Data from a neurodegenerative cohort
“Multisystemic Proteinopathy” (MSP) is a genetic disorder that can affect muscle, bone, central and peripheral nervous system [1–3], associated with four causative genes, namely Valosin Containing Protein (VCP), Heterogeneous Nuclear Ribonucleoprotein A2/B1 (HNRNPA2B1), Heterogeneous Nuclear R ibonucleoprotein A1 (HNRNPA1) and Sequestosome 1 (SQSTM1). Classical phenotypes include Frontotemporal dementia (FTD), Paget disease of the bone (PBD) and inclusion body myopathy (IBM), mentioned together in the acronym “IBMPFD”, that share common pathophysiology.
Source: Journal of the Neurological Sciences - May 3, 2021 Category: Neurology Authors: Veria Vacchiano, Nicola Mometto, Anna Bartoletti-Stella, Giovanni Rizzo, Samir Abu-Rumeileh, Fabrizio Salvi, Piero Parchi, Rocco Liguori, Sabina Capellari Tags: Letter to the Editor Source Type: research
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency
Muscle phosphorylase kinase b deficiency (PhK) is a rare disorder of glycogen metabolism characterized by exercise-induced myalgia and cramps, myoglobinuria and progressive muscle weakness. PhK deficiency is due to mutations in the PHKA1 gene inherited in an X-linked manner and is associated to glycogenosis type VIII (GSD VIII also called GSD IXd). PHKA1 gene codes for the αM subunit of the PhK, a multimeric protein complex responsible for the control of glycogen breakdown in muscle. Until now, few patients have been reported with X-linked recessive muscle PhK deficiency due to PHKA1 mutations.
Source: Journal of the Neurological Sciences - March 17, 2021 Category: Neurology Authors: Michela Bisciglia, Roseline Froissart, Anne Laure Bedat-Millet, Norma Beatriz Romero, Magali Pettazzoni, Jean-Yves Hogrel, Fran çois M. Petit, Tanya Stojkovic Tags: Clinical short communication Source Type: research
Peculiar muscle imaging findings in a patient with alphaB-crystallinopathy and axial myopathy
Myofibrillar myopathies (MFM) are muscle disorders characterized by myofibrillar disruption beginning at the Z-discs and abnormal accumulation of sarcoplasmic proteins [1]. Mutations in the gene encoding for alphaB-crystallin (CRYAB) are a rare cause of MFM.
Source: Journal of the Neurological Sciences - June 22, 2020 Category: Neurology Authors: Sara Bortolani, Fabiana Fattori, Mauro Monforte, Enzo Ricci, Giorgio Tasca Tags: Letter to the Editor Source Type: research
Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families
Autophagic vacuolar myopathies are a group of X-linked muscular disorders first described as X-linked myopathy with excessive autophagy (XMEA), an early onset myopathy that affects male patients, with slowly progressive, proximal limbs weakness, with normal cardiac function [1]. It is related to pathogenic variants of the VMA21 gene [2]. This gene codifies an assembly chaperone of the vacuolar ATPase, that is a proton pump complex fundamental for the process of autophagy under low lysosomal pH [2].
Source: Journal of the Neurological Sciences - June 4, 2020 Category: Neurology Authors: Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Junior, Monica M. Navarro, Miriam M. Menezes, Julia F. Paim, Jaquelin Valicek, Maria Isabel Lima, Roberto Velloso-Filho, Maria Henriqueta Freire-Lyra, Reinaldo I. Takata, Michio Inoue, Mariko Okubo, Arito Tags: Letter to the Editor Source Type: research
Distal myopathy and thrombocytopenia due to a novel GNE mutation
We describe a case of childhood-onset refractory thrombocytopenia and early adult-onset distal weakness due to compound known and novel heterozygous mutations in GNE gene that encodes bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.
Source: Journal of the Neurological Sciences - May 29, 2020 Category: Neurology Authors: Pritikanta Paul, Teerin Liewluck Tags: Letter to the Editor Source Type: research
Pathogenicity of the m.15043G > A variant
We appreciate the criticism raised by Dr. Alston and colleagues questioning the pathogenicity of the m.15043G > A variant [1]. Irrespective of the question if the variant was responsible for the phenotype or not, there was clinical evidence that the described patient had indeed a mitochondrial disorder. The patient presented with a multisystem phenotype, including focal/generalized seizures, moderate cognit ive decline, choreo-ballism, sensori-neural hearing loss (SNHL), primary hypoparathyroidism, myopathy (ptosis), neuropathy, and elevated serum / cerebrospinal fluid (CSF) lactate and pyruvate.
Source: Journal of the Neurological Sciences - May 27, 2020 Category: Neurology Authors: Ritwik Ghosh, Souvik Dubey, Subhankar Chatterjee, Josef Finsterer, Rakesh Biswas, Durjoy Lahiri, Biman Kanti Ray Tags: Response to letter to the Editor Source Type: research
Pathogenicity of the m15043G > A variant
We appreciate the criticism raised by Dr. Alston and colleagues questioning the pathogenicity of the m.15043G > A variant [1]. Irrespective of the question if the variant was responsible for the phenotype or not, there was clinical evidence that the described patient had indeed a mitochondrial disorder. The patient presented with a multisystem phenotype, including focal/generalized seizures, moderate cogni tive decline, choreo-ballism, sensori-neural hearing loss (SNHL), primary hypoparathyroidism, myopathy (ptosis), neuropathy, and elevated serum / cerebrospinal fluid (CSF) lactate and pyruvate.
Source: Journal of the Neurological Sciences - May 27, 2020 Category: Neurology Authors: Ritwik Ghosh, Souvik Dubey, Subhankar Chatterjee, Josef Finsterer, Rakesh Biswas, Durjoy Lahiri, Biman Kanti Ray Tags: Response to letter to the Editor Source Type: research
Response to Letter regarding case report, “Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes due to m.3243A > G mutation in a 76-year-old woman ”
We appreciate Dr. Finsterer's comments [1] regarding our case report in which we described a previously healthy 76-year-old woman who developed non-convulsive status epilepticus (NCSE) as a stroke-like episode [2]. Her son, who had developed mitochondrial encephalopathy due to m.3243A > G at the age of 40 before her, presented with similar neurological symptoms and MRI findings. Using a quantitative digital PCR method, we detected 1.3% of the m.3243A > G mutation in mitochondrial DNA prepared from peripheral leukocytes in our case.
Source: Journal of the Neurological Sciences - May 18, 2020 Category: Neurology Authors: Tetsuro Ago, Kana Ueki, Yoshinobu Wakisaka, Kuniyuki Nakamura, Takanari Kitazono Tags: Response to letter to the Editor Source Type: research
Relation between intra-mitochondrial inclusions and pathophysiology of mitochondrial myopathy remains unprecise
with interest we read the article by Lu et al. about a study on the frequency of intra-mitochondrial lipofuscin aggregates (IMLAs), spherical dense bodies (SDBs), and paracristalline inclusions (PCIs) in 24 patients with mitochondrial myopathy on histopathology or progressive external ophthalmoplegia (PEO) on clinical examination, 10 patients with inclusion body myopathy (IBM), and 21 young respectively old patients with minimal myopathic changes [1]. IMLAs were more frequent in old compared to young patients with minimal myopathic changes [1].
Source: Journal of the Neurological Sciences - May 9, 2020 Category: Neurology Authors: Josef Finsterer Tags: Letter to the Editor Source Type: research
Response to “Relation between intra-mitochondrial inclusions and pathophysiology of mitochondrial myopathy remains unprecise”
In the Letter regarding our recently published article “Increased intra-mitochondrial lipofuscin aggregates with spherical dense body” [1], Josef Finsterer has made a few comments with questions to which we happy to respond.
Source: Journal of the Neurological Sciences - May 9, 2020 Category: Neurology Authors: Jian-Qiang Lu, Mark A. Tarnopolsky Tags: Letter to the Editor Source Type: research
