Search results for "SPAST"
showing 10 items of 67 documents
A controlled study comparing salivary osmolality, caries experience and caries risk in patients with cerebral palsy
2018
Background Cerebral palsy (CP) is a permanent neurological disorder accompanied by secondary musculoskeletal masticatory disorder, with repercussion on chewing and deglutition functions. In these conditions, the liquids ingestion is compromised resulting in salivary osmolality alteration. The objective of this study was to compare salivary osmolality, caries experience and caries risk between normoreactive individuals and patients with CP. Material and Methods The participants were 4-20 years old: 52 patients with CP treated at a reference rehabilitation centre (study group, SG), and 52 normoreactive individuals (control group, CG). Saliva was collected for five minutes using cotton rolls. …
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
2010
Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) accounting for up to 40% of autosomal dominant (AD) forms and 12-18% of sporadic cases. The phenotype associated with HSP due to mutations in the SPG4 gene tends to be pure. There is increasing evidence, however, of patients with complicated forms of spastic paraplegia in which SPG4 mutations were identified. A cohort of 38 unrelated Italian patients with spastic paraplegia, of which 24 had a clear dominant inheritance and 14 were apparently sporadic, were screened for mutations in the SPG4 gene.We identified 11 different mutations, six of which were novel (p.Glu143GlyfsX8, p.Tyr415X, p.Asp548Asn, c…
Does single-event multilevel surgery enhance physical functioning in the real-life environment in children and adolescents with cerebral palsy (CP)?:…
2013
Orthopedic procedures are a method of treating gait deviations and musculoskeletal pathology that develop with age in cerebral palsy (CP). Recently single-event multilevel surgery (SEMLS) has become common practice. Although there is evidence that SEMLS could improve gait, it is unclear whether it will enhance overall physical functioning and coping strategies in the real-life environment. It is unclear how improved walking capacity affects actual functioning and enables greater independence. The aim of this study was to examine the perceptions of adolescents concerning the results of surgery on personal physical functioning in the environment five or more years after SEMLS. In this study, …
Stimulus Evaluation, Event Preparation, and Motor Action Planning in Young Patients With Mild Spastic Cerebral Palsy: An Event-Related Brain Potentia…
2012
The study investigated stimulus evaluation time, event preparation, and motor action planning of patients with mild spastic cerebral palsy and a peer control group in the age range of 9 to 18 years. To this end, participants were carrying out a stimulus recognition task. Findings indicated an overall slowness and inaccurate reaction time performance of the patient group. An event-related potential analysis revealed that the stimulus evaluation processing, indexed by the parietal P300, was intact in the group of patients. Also event preparation and action planning, indexed by respectively the frontal late contingent negative variation and the frontal P2, were intact in the group of patients…
Slackline Training in Children with Spastic Cerebral Palsy: A Randomized Clinical Trial
2020
Objective: To assess whether a slackline intervention program improves postural control in children/adolescents with spastic cerebral palsy (CP). Design: Randomized controlled trial. Setting: Patients&rsquo
The effects of phorbol 12,13-diacetate on responses of guinea-pig isolated trachea to methylxanthines, isoprenaline and ryanodine
1994
1. Using guinea-pig isolated trachea, we have studied how phorbol 12,13-diacetate (PDA) modulates mechanical responses of the tissue to methylxanthines, isoprenaline and ryanodine. 2. Caffeine (10 microM-5 mM), theophylline (10 microM-5 mM) and isoprenaline (1 nM-1 microM), each inhibited the spontaneous tone of the trachea. Pretreatment with PDA (0.1-10 microM) converted relaxant responses to high concentrations of the methylxanthines into contractions. PDA produced no equivalent effect against isoprenaline. Pretreatment with verapamil (1 or 10 microM), nifedipine (0.1 microM) or incubation with Ca(2+)-free, EGTA (0.1 mM)-containing physiological salt solution (PSS) suppressed the contract…
Visual Attention Study in Youth With Spastic Cerebral Palsy Using the Event-Related Potential Method
2011
Youth with mild spastic cerebral palsy (n = 14) and a peer control group were compared on an oddball paradigm. Here, visual stimuli were presented with low and high probability and participants were instructed to count in silence the number of rare stimuli. The infrequent stimulus typically elicits an enhanced frontal central N2 and a centroparietal P300 event-related brain potential, reflecting orientation and evaluation of stimulus novelty. No differences in latency and amplitude of the N2–P300 complex were found between the 2 groups, indicating that some fundamental attention processes are intact in youth with mild spastic cerebral palsy.
Glial expression of Swiss cheese (SWS), the Drosophila orthologue of neuropathy target esterase (NTE), is required for neuronal ensheathment and func…
2016
ABSTRACT Mutations in Drosophila Swiss cheese (SWS) or its vertebrate orthologue neuropathy target esterase (NTE), respectively, cause progressive neuronal degeneration in Drosophila and mice and a complex syndrome in humans that includes mental retardation, spastic paraplegia and blindness. SWS and NTE are widely expressed in neurons but can also be found in glia; however, their function in glia has, until now, remained unknown. We have used a knockdown approach to specifically address SWS function in glia and to probe for resulting neuronal dysfunctions. This revealed that loss of SWS in pseudocartridge glia causes the formation of multi-layered glial whorls in the lamina cortex, the firs…
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy
2020
Diseases associated with acquired or genetic defects in members of the chaperoning system (CS) are increasingly found and have been collectively termed chaperonopathies. Illustrative instances of genetic chaperonopathies involve the genes for chaperonins of Groups I (e.g., Heat shock protein 60, Hsp60) and II (e.g., Chaperonin Containing T-Complex polypeptide 1, CCT). Examples of the former are hypomyelinating leukodystrophy 4 (HLD4 or MitCHAP60) and hereditary spastic paraplegia (SPG13). A distal sensory mutilating neuropathy has been linked to a mutation [p.(His147Arg)] in subunit 5 of the CCT5 gene. Here, we describe a new possibly pathogenic variant [p.(Leu224Val)] of the same subunit b…
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome
2021
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