Search results for "SPAST"
showing 10 items of 67 documents
Identification of novel mutations in L1CAM gene by a DHPLC-based assay
2016
X-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia Type I, and X-linked partial agenesis of the corpus callosum are rare diseases mainly affecting male population and broadly referred as L1 syndrome, caused by mutations in the L1CAM gene. In the present study 36 boys and a male fetus whose clinical features were consistent with L1 syndrome were analyzed by dHPLC assay and direct sequencing of L1CAM gene. Sequence analysis of the 14 different aberrant dHPLC elution profiles demonstrated that six of them were associated with already reported polymorphisms, four with previously described causative variants while the remaining four represented novel L1CAM mutations. …
Oxidative Stress-Induced Axon Fragmentation Is a Consequence of Reduced Axonal Transport in Hereditary Spastic Paraplegia SPAST Patient Neurons
2020
Hereditary spastic paraplegia (HSP) is a group of inherited disorders characterized by progressive spasticity and paralysis of the lower limbs. Autosomal dominant mutations in SPAST gene account for ∼40% of adult-onset patients. We have previously shown that SPAST patient cells have reduced organelle transport and are therefore more sensitive to oxidative stress. To test whether these effects are present in neuronal cells, we first generated 11 induced pluripotent stem (iPS) cell lines from fibroblasts of three healthy controls and three HSP patients with different SPAST mutations. These cells were differentiated into FOXG1-positive forebrain neurons and then evaluated for multiple aspects …
Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells
2020
Mutations in SPG7 and SPAST are common causes of hereditary spastic paraplegia (HSP). While some SPG7 mutations cause paraplegin deficiency, other SPG7 mutations cause increased paraplegin expression. Mitochondrial function has been studied in models that are paraplegin-deficient (human, mouse, and Drosophila models with large exonic deletions, null mutations, or knockout models) but not in models of mutations that express paraplegin. Here, we evaluated mitochondrial function in olfactory neurosphere-derived cells, derived from patients with a variety of SPG7 mutations that express paraplegin and compared them to cells derived from healthy controls and HSP patients with SPAST mutations, as …
Treatment with albumin-hydroxyoleic acid complex restores sensorimotor function in rats with spinal cord injury: Efficacy and gene expression regulat…
2017
Sensorimotor dysfunction following incomplete spinal cord injury (SCI) is often characterized by paralysis, spasticity and pain. Previously, we showed that intrathecal (i.t.) administration of the albumin-oleic acid (A-OA) complex in rats with SCI produced partial improvement of these symptoms and that oral 2-hydroxyoleic acid (HOA, a non-hydrolyzable OA analogue), was efficacious in the modulation and treatment of nociception and pain-related anxiety, respectively. Here we observed that intrathecal treatment with the complex albumin-HOA (A-HOA) every 3 days following T9 spinal contusion injury improved locomotor function assessed with the Rotarod and inhibited TA noxious reflex activity in…
GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathw…
2017
Contains fulltext : 177350.pdf (Publisher’s version ) (Closed access) The molecular genetics of panic disorder (PD) with and without agoraphobia (AG) are still largely unknown and progress is hampered by small sample sizes. We therefore performed a genome-wide association study with a dimensional, PD/AG-related anxiety phenotype based on the Agoraphobia Cognition Questionnaire (ACQ) in a sample of 1370 healthy German volunteers of the CRC TRR58 MEGA study wave 1. A genome-wide significant association was found between ACQ and single non-coding nucleotide variants of the GLRB gene (rs78726293, P=3.3 x 10-8; rs191260602, P=3.9 x 10-8). We followed up on this finding in a larger dimensional AC…
HUMAN T-LYMPHOTROPIC VIRUS 1 (HTLV-1) AND HUMAN T-LYMPHOTROPIC VIRUS 2 (HTLV-2): GEOGRAPHICAL RESEARCH TRENDS AND COLLABORATION NETWORKS (1989-2012)
2016
Publications are often used as a measure of research work success. Human T-lymphotropic virus (HTLV) type 1 and 2 are human retroviruses, which were discovered in the early 1980s, and it is estimated that 15-20 million people are infected worldwide. This article describes a bibliometric review and a coauthorship network analysis of literature on HTLV indexed in PubMed in a 24-year period. A total of 7,564 documents were retrieved, showing a decrease in the number of documents from 1996 to 2007. HTLV manuscripts were published in 1,074 journals. Japan and USA were the countries with the highest contribution in this field (61%) followed by France (8%). Production ranking changed when the numb…
Robotic Rehabilitation and Multimodal Instrumented Assessment of Post-stroke Elbow Motor Functions-A Randomized Controlled Trial Protocol.
2020
Background: The reliable assessment, attribution, and alleviation of upper-limb joint stiffness are essential clinical objectives in the early rehabilitation from stroke and other neurological disorders, to prevent the progression of neuromuscular pathology and enable proactive physiotherapy toward functional recovery. However, the current clinical evaluation and treatment of this stiffness (and underlying muscle spasticity) are severely limited by their dependence on subjective evaluation and manual limb mobilization, thus rendering the evaluation imprecise and the treatment insufficiently tailored to the specific pathologies and residual capabilities of individual patients. Methods: To ad…
The Current State of Knowledge on the Clinical and Methodological Aspects of Extracorporeal Shock Waves Therapy in the Management of Post-Stroke Spas…
2021
In many patients after stroke, spasticity develops over time, resulting in a decrease in the patient’s independence, pain, worsening mood, and, consequently, lower quality of life. In the last ten years, a rich arsenal of physical agents to reduce muscle tone such as extracorporeal shock therapy (ESWT) wave has come through. The aim of this narrative review article is to present the current state of knowledge on the use of ESWT as a supplement to the comprehensive rehabilitation of people after stroke suffering from spasticity. The PubMed and PEDro databases were searched for papers published in English from January 2000 to December 2020, 22 of which met inclusion criteria for clinical stud…
Effectiveness of Shock Wave Therapy as a Treatment for Spasticity: A Systematic Review
2021
Background: The purpose of this study was to collect and analyse the available scientific evidence on the effectiveness of shock wave therapy as a treatment for spasticity. Methods: the search was performed in the following databases: PubMed, PEDro, Cochrane, Embase, and the Virtual Health Library. All publications from November 2009 to November 2019 were selected that included a sample of patients with spasticity and prior suspension of botulinum toxin, to whom shock wave therapy was applied. The methodological quality of the articles was evaluated using the Jadad scale and the pyramid of quality of scientific evidence. Results: 25 studies involving 866 participants with spasticity were se…
Medial gastrocnemius muscle and tendon interaction during gait in typically developing children and children with cerebral palsy
2020
1. IntroductionEfficient gait is dependent on optimal interaction between musclesand tendons [1]. Pathological changes in the extensibility of the MGmuscle fascicles, whole muscle-belly and Achilles tendon have beenreported in children with spastic cerebral palsy (CP) [2]. Studying therelative length of these tissues during gait can improve our understandingof their dynamics and, inferably, the control strategies used inCP. In-vivo dynamic ultrasound imaging has been used to visualise theinteraction between the MG muscle and tendon during 3D gait analysis.However, most studies combined ultrasound imaging of one variable(either fascicles or muscle-belly and tendon) with some form ofmusculosk…