SPG11 is one of the most frequent autosomal recessively inherited types of hereditary spastic paraplegias (HSP or SPG). We describe the first seven patients from the Czech Republic with biallelic pathogenic variants in the SPG11. The typical HSP neurological findings are present in all the described patients in that the signs of a complicated phenotype develop slowly. The speed of disease progression, and the severity of gait impairment, was fast in all patients but the phenotype varied from patient to patient. Thin corpus callosum was not observed in two patients. Two Czech SPG11 patients had unusual late onset of disease and both were compound heterozygotes for the c.5381T>C variant. Therefore, we looked for a potential ralationship between the type of variant in the SPG11 gene and the age of disease onset. By reviewing all described SPG11 patients carrying at least one missense pathogenic variant in the SPG11 gene we did not found any relationship between the age of onset and the type of variant. Together twelve pathogenic variants, including gross deletions, were found in the SPG11 gene the Czech SPG11 patients, the c.3454-2A>G variant is novel.
Aplikace botulotoxinu do musculus piriformis je jednou z možností terapie syndromu musculus piriformis. Tato poměrně kontroverzní klinická jednotka zahrnuje příznaky vysvětlované zvýšeným napětím musculus piriformis, některé tyto příznaky souvisejí s těsným anatomickým vztahem tohoto svalu s nervus ischiadicus. V terapii syndromu musculus piriformis mají významnou úlohu fyzioterapie a režimová opatření, dále jsou užívána analgetika a myorelaxancia; v případech, kdy předchozí terapie selhává, přichází do úvahy aplikace lokálního anestetika či botulotoxinu. K přesnému zacílení injekce do tohoto poměrně hluboko uloženého svalu lze aplikaci provést pod ultrasonografickou kontrolou. Cílem sdělení je přiblížit techniku takové aplikace; popisujeme, jak byla provedena aplikace botulotoxinu u našeho pacienta, o kterém je pak dále pojednáno v krátké kazuistice.
The administration of botulinum toxin into the piriformis muscle is one of the treatment options for piriformis syndrome. This relatively controversial clinical entity involves symptoms explained by an increased tone of the piriformis muscle, with some of them being related to the close anatomical relationship of this muscle with the sciatic nerve. Physiotherapy and lifestyle measures, followed by the use of analgesics and muscle relaxants, play an important role in treating piriformis syndrome; in the case of failure of a previous treatment, the administration of a local anaesthetic or botulinum toxin is considered. In order to precisely target the injection into this relatively deeply embedded muscle, the administration can be done under ultrasound guidance. The aim of the article is to introduce the technique of such administration; we describe the administration of botulinum toxin in our patient who is then presented in a short case report.
- MeSH
- botulotoxiny * aplikace a dávkování terapeutické užití MeSH
- diferenciální diagnóza MeSH
- dospělí MeSH
- injekce intramuskulární metody MeSH
- lidé MeSH
- nervus ischiadicus patofyziologie MeSH
- pánevní bolest etiologie terapie MeSH
- syndrom musculus piriformis * diagnóza etiologie terapie MeSH
- ultrasonografie metody MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
The aim of this study was to investigate the functional anatomy of decision-making during the Iowa Gambling Task in patients with Parkinson's disease. We used event-related functional magnetic resonance imaging (fMRI) during a computerized version of IGT to compare 18 PD patients on dopaminergic medication in the ON state and 18 healthy control subjects. Our analyses focused on outcome evaluation following card selection, because we expected this aspect of decision-making to be impaired in PD patients. The PD patients exhibited lower activation of the left putamen than the control group as a reaction to penalty. Using psychophysiological interaction analysis, we identified decreased functional connectivity between the right globus pallidus internus and the left anterior cingulate gyrus in the PD group. In contrast, increased connectivity between these structures was observed after penalty in the control group. Our results suggest altered functioning of the basal ganglia and their connections with the cortical structures involved in the limbic loop (e.g., the limbic fronto-striatal circuit of the basal ganglia) during decision-making in PD patients. Differences in the response to loss could be associated with insufficient negative reinforcement after a loss in PD patients in the ON state in comparison to a healthy population.
- MeSH
- cingulární gyrus patofyziologie MeSH
- globus pallidus patofyziologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- mapování mozku MeSH
- neuropsychologické testy MeSH
- Parkinsonova nemoc patofyziologie MeSH
- putamen patofyziologie MeSH
- rozhodování fyziologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
The aim of our study was to analyse decision making in early-onset Parkinson's disease (PD) patients performing the Iowa Gambling Task (IGT). We compared 19 patients with early-onset PD (≤ 45 years) on dopaminergic medication (no evidence of depression, dementia, executive dysfunction according to the Tower of London test and the Stroop test, or pathological gambling) with 20 age-matched controls. A computer version of the IGT was employed. The PD patients achieved slightly lower IGT scores than the control group. A detailed analysis based on 'shift frequencies' between the individual decks showed that the patients tended to change their preferences for the decks more frequently, with a higher preference for the 'disadvantageous' deck B. Control subjects seemed to develop a more effective strategy. These differences could be caused by the poorer ability of the patients to develop any strategy at all. We observed changes in decision making during IGT performance in patients with early-onset PD, although they had no executive dysfunction as measured by established neuropsychological tests. The more detailed analysis employed in the present study could lead to a more accurate study of IGT performance and application of IGT in clinical practice.
- MeSH
- dospělí MeSH
- exekutivní funkce fyziologie MeSH
- hráčství psychologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- neuropsychologické testy normy MeSH
- Parkinsonova nemoc diagnóza epidemiologie psychologie MeSH
- psychomotorický výkon fyziologie MeSH
- rozhodování fyziologie MeSH
- věk při počátku nemoci MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
In patients with Parkinson's disease with higher prevalence than in current population there appear pathological behaviours characterized by compulsion, repetitiveness and impulsivity, which are connected with material profit or pleasurable experience. They are, in particular, pathological gambling, hypersexuality, compulsive shopping and compulsive eating (in the literature they are collectively referred to as impulse control disorders). Pathological preoccupation with repeated mechanical activities (so-called punding) and excessive compulsive intake of dopaminergic medication (so-called dopamine dysregulation syndrome or also syndrome of hedonistic homeostatic dysregulation) are of similar nature. The paper treats briefly the risk factors and prevalence of these pathological behaviours. In current clinical practice, these psychiatric complications frequently escape doctors' attention, they are underdiagnosed. Although no generally valid recommendations for their therapy are currently available, they can be influenced medically. Of advantage can be modified dopaminergic medication (usually dose reduction ofdopaminergic agonists); multidisciplinary approach to the problem is appropriate. The pathological behaviours given above can frequently lead to considerable material losses and markedly aggravate patients' handicap in the social sphere; it can be expected that in the future they can become a problem also from the ethical and legal points of view.
- MeSH
- hráčství etiologie psychologie MeSH
- impulzivní poruchy diagnóza epidemiologie etiologie prevence a kontrola MeSH
- kvalita života MeSH
- lidé MeSH
- Parkinsonova nemoc komplikace epidemiologie psychologie MeSH
- rizikové faktory MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
