Search results for "PARAPLEGIA"
showing 10 items of 48 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 …
The influence of regular physical activity on lung function in paraplegic people
2015
Cross-sectional study. The main goal of this study was to examine the influence of regular physical activity (PA) on lung volumes and flows. The study was conducted in the Vall d’Hebron Hospital, Barcelona (Spain), and La Fe Hospital, Valencia (Spain). Spirometric tests were performed to 67 paraplegics, and differences were established between the active group (AG) (n=37) that performed >60 min per week of moderate-to-vigorous PA (MVPA) and 30 non-AG (NAG). Further, we established the relationship between the spirometric and PA variables and between being active and reaching the lower limit of normal (LLN) of the spirometric variables. AG had greater values than the NAG: FVC (P 0.05). The p…
Active paraplegics are protected against exercise-induced oxidative damage through the induction of antioxidant enzymes
2016
Exercise improves functional capacity in spinal cord injury (SCI). However, exhaustive exercise, especially when sporadic, is linked to the production of reactive oxygen species that may have a detrimental effect on SCI. We aimed to study the effect of a single bout of exhaustive exercise on systemic oxidative stress parameters and on the expression of antioxidant enzymes in individuals with paraplegia. The study was conducted in the Physical Therapy department and the Physical Education and Sports department of the University of Valencia. Sixteen paraplegic subjects were submitted to a graded exercise test (GET) until volitional exhaustion. They were divided into active or non-active group…
Comorbidity and physical activity in people with paraplegia: a descriptive cross-sectional study.
2017
Descriptive cross-sectional study. The study was conducted in the Spinal Cord Injury Unit of the University Vall d’Hebron Hospital and in the Physical Education and Sports Department of the University of Valencia. The aim of this study was to quantify the presence of comorbidities in spinal cord injury (SCI) subjects who did or did not perform regular physical activity (PA) and to identify the relationship between PA and the level of comorbidity. The sample consisted of patients with complete motor SCI (T2–T12), who were fitted with an accelerometer attached to the non-dominant wrist for a period of 1 week. The clinical and blood analytic variables were selected by an expert panel. In the e…
Accelerometer assessment of physical activity in individuals with paraplegia who do and do not participate in physical exercise
2018
OBJECTIVE: Our main goal was to measure physical activity (PA) in people with paraplegia. Secondarily, we aimed to establish the relationship between being engaged in physical exercise (PE) and reaching the recommended moderate-to-vigorous physical activity (MVPA) level. We further analyzed the effect of being engaged in PE on the PA levels. DESIGN: Descriptive cross-sectional. SETTING: Spanish associations for individuals with spinal cord injury. PARTICIPANTS: Ninety-six manual wheelchair users with chronic paraplegia. INTERVENTIONS: Participants wore a wrist accelerometer for one week. OUTCOME MEASURES: Levels of PA and sedentary behavior. In addition, participants were classified into tw…
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia
2009
Background: Hereditary spastic paraplegias (HSP) are clinically and genetically highly heterogeneous. Recently, two novel genes, SPG11 ( spatacsin ) and SPG15 ( spastizin ), associated with autosomal recessive HSP, were identified. Clinically, both are characterised by complicated HSP and a rather similar phenotype consisting of early onset spastic paraplegia, cognitive deficits, thin corpus callosum (TCC), peripheral neuropathy and mild cerebellar ataxia. Objective: To compare the frequency of SPG11 and SPG15 in patients with early onset complicated HSP and to further characterise the phenotype of SPG11 and SPG15. Results: A sample of 36 index patients with early onset complicated HSP and …
Emotional Factors and Subjective Quality of Life in Subjects with Spinal Cord Injuries
2002
Benony H, Daloz L, Bungener C, Chahraoui K, Frenay C, Auvin J: Emotional factors and subjective quality of life in subjects with spinal cord injuries. Am J Phys Med Rehabil 2002;81:437- 445. Objective: To compare depression, subjective perception of quality of life, and social support in patients with spinal cord injuries 4 yr or more after trauma vs. controls. Design: The Rorschach inkblot method, the Diagnostic Interview Schedule Self-Administered, the Progressive Matrix 38, the Social Support Appraisals, and the Subjective Quality of Life Profile were used to assess 33 patients with spinal cord injuries and 33 matched controls. Results: No significant difference was observed for levels o…
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
2008
Contains fulltext : 71291.pdf (Publisher’s version ) (Closed access) Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients by direct sequencing analysis. Twelve out of 16 mutations were small insertions, deletions or splice site mutations. These changes would result in shifts of the open-reading-frame followed by premature termination of translation and haploins…