Search results for "SPAST"

Primary lateral sclerosis and hereditary spastic paraplegia in sporadic patients. An important distinction in descriptive studies.

2016

Abstract Differentiating between primary lateral sclerosis and apparently sporadic hereditary spastic paraplegia patients is an important but difficult issue in transversal studies. Consequently, these patients have been indistinctly classified as primary lateral sclerosis or sporadic HSP in different publications, further contributing to the confusion between both diseases. In our opinion, Schule et al have not reliably excluded PLS in their cohort of simplex HSP, what could affect their reported results. We think that a clearer distinction should be made between both diseases and we propose new definitions and criteria to facilitate this differentiation. This article is protected by copyr…

Blindness, tetraspasticity, and other signs of irreversible brain damage in hereditary angioedema

2017

AP5Z1/SPG4 8 frequency in autosomal recessive and sporadic spastic paraplegia

2014

Hereditary spastic paraplegias (HSP) constitute a rare and highly heterogeneous group of neurodegenerative disorders, defined clinically by progressive lower limb spasticity and pyramidal weakness. Autosomal recessive HSP as well as sporadic cases present a significant diagnostic challenge. Mutations in AP5Z1, a gene playing a role in intracellular membrane trafficking, have been recently reported to be associated with spastic paraplegia type 48 (SPG48). Our objective was to determine the relative frequency and clinical relevance of AP5Z1 mutations in a large cohort of 127 HSP patients. We applied a targeted next-generation sequencing approach to analyze all coding exons of the AP5Z1 gene. …

4D paleoenvironmental evolution of the Early Triassic Sonoma Foreland Basin (western USA)

2017

In the wake of the Mesozoic, the Early Triassic (~251.95 Ma) corresponds to the aftermath of the most severe mass extinction of the Phanerozoic: the end-Permian crisis, when life was nearly obliterated (e.g., 90% of marine species disappeared). Consequences of this mass extinction are thought to have prevailed for several millions of years, implying a delayed recovery lasting the whole Early Triassic, if not more. Several paradigms have been established and associated to a delayed biotic recovery scenario expected to have resulted from harsh and deleterious paleoenvironments. These paradigms include a global anoxia in the marine realm, a “Lilliput” effect, and the presence of “disaster” tax…

Update on mechanism and therapeutic implications of spinal cord stimulation and cerebral hemodynamics: A narrative review

2017

Spinal cord stimulation (SCS) is well known for its early role in the management of chronic pain, mainly failed back surgery syndrome (FBSS), spasticity, and bowel and bladder dysfunction. In more recent years, SCS has been proposed for patients suffering from refractory angina or peripheral vasculopathies in order to gain symptom relief, thus indicating some hemodynamic effect on the peripheral circulation. Taking into account this scientific observation, since the late1980s, researchers have started to investigate the potential effect of SCS on cerebral blood flow (CBF) regulation and its possible application in certain pathological settings dealing with vascular pattern dysfunction, such…

Leczenie poudarowej spastyczności z uwzględnieniem wybranych metod fizjoterapeutycznych i usprawniania kontroli motorycznej - przegląd aktualnych dow…

2017

Choroby naczyniowe mózgu o podłożu udarowym dotyczą milionów osób na całym świecie, a roczny odsetek zachorowalności stale rośnie. W dobie społeczeństwa starzejącego się i cierpiącego na liczne czynniki ryzyka, w szczególności te modyfikowalne, udary mózgu oraz następowe porażenie mięśni w wyniku uszkodzenia struktur składowych górnego neuronu ruchowego będzie coraz to poważniejszym problem dla całego systemu opieki zdrowotnej. Skuteczne postępowanie lecznicze i fizjoterapeutyczne w przypadku utrwalonej spastyczności poudarowej, zarówno w okresie ostrym, jak i przewlekłym, stanowi nadal istotny problem medyczny o charakterze interdyscyplinarnym. Opieka nad tego typu pacjentem staje się swoi…

Mūsdienu un paleoklimata rekonstruēšana, izmantojot līdzāspastāvēšanas iespējamības novērtējuma metodi

2021

Mūsdienās aizvien aktuālāka kļūst augu makroskopisko atlieku izmantošana paleoklimatoloģijā. Maģistra darbs saistīts ar klimata rekonstruēšanu pēc līdzāspastāvēšanas iespējamības novērtējuma (CRACLE) metodes. Pētījuma izstrādes laikā tika veiktas Ziemeļeiropas mūsdienu klimata un Latvijas paleoklimata rekonstrukcijas, izmantojot nogulumos esošo augu makroskopisko, kā arī mikroskopisko atlieku uzskaites datus. Rekonstruētie klimata parametri tika novērtēti ar līdz šim zināmo teoriju un instrumentālajiem mērījumiem. Maģistra darbā iegūtie rezultāti ļauj secināt, ka mūsdienu klimata rekonstrukcijas sniedz mainīgas pareizības rezultātus, kā arī paleoklimata rekonstrukcijās uzrādās nozīmīgākie p…

Disease severity affects quality of life of hereditary spastic paraplegia patients

2011

Background and purpose: Hereditary spastic paraplegia (HSP) causes progressive gait disturbance because of degeneration of the corticospinal tract. To assess its impact on Health-Related Quality of Life (HRQoL), we analyzed the correlation of HRQoL with disease severity and clinical symptoms in HSP. Methods: HRQoL was assessed by the Short-Form 36 (SF-36) Mental and Physical Component summary scores (MCS and PCS) in 143 German patients with HSP. Disease severity was assessed by the Spastic Paraplegia Rating Scale (SPRS) and landmarks of walking ability. Patients with ! pure" or ! complicated" HSP were compared. Results: Higher SPRS scores indicating higher disease severity correlated signif…

Interests of medical hypnosis during toxin botulinic injections: Preliminary study

2014

Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.

2021

Spastic paraplegia type 7 (SPG7) is one of the most common hereditary spastic paraplegias. SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes. We sought to clinically and genetically characterize a Spanish cohort of SPG7 patients. Patients were recruited from our HCA and HSP cohorts. We identified twenty-one patients with biallelic pathogenic SPG7 mutations. Mean age at onset was 37.4 years (SD ± 14.3). The most frequent phenotype was spastic ataxia (57%), followed by pure spastic paraplegia (19%) and complex phenotypes (19%). Isolated patients presented with focal or multifocal dystonia, subclinical myopat…