In this perspective article, we highlight the possible applicability of genetic testing in Parkinson's disease and dystonia patients treated with deep brain stimulation (DBS). DBS, a neuromodulatory ...technique employing electrical stimulation, has historically targeted motor symptoms in advanced PD and dystonia, yet its precise mechanisms remain elusive. Genetic insights have emerged as potential determinants of DBS efficacy. Known PD genes such as GBA, SNCA, LRRK2, and PRKN are most studied, even though further studies are required to make firm conclusions. Variable outcomes depending on genotype is present in genetic dystonia, as DYT-TOR1A, NBIA/DYTPANK2, DYT-SCGE and X-linked dystonia-parkinsonism have demonstrated promising outcomes following GPi-DBS, while varying outcomes have been documented in DYT-THAP1. We present two clinical vignettes that illustrate the applicability of genetics in clinical practice, with one PD patient with compound GBA mutations and one GNAL dystonia patient. Integrating genetic testing into clinical practice is pivotal, particularly with advancements in next-generation sequencing. However, there is a clear need for further research, especially in rarer monogenic forms. Our perspective is that applying genetics in PD and dystonia is possible today, and despite challenges, it has the potential to refine patient selection and enhance treatment outcomes.
Parkinson's disease (PD) is neurodegenerative disease with a multifactorial etiopathogenesis with accumulating evidence identifying microbiota as a potential factor in the earliest, prodromal phases ...of the disease. Previous research has already shown a significant difference between gut microbiota composition in PD patients as opposed to healthy controls, with a growing number of studies correlating gut microbiota changes with the clinical presentation of the disease in later stages, through various motor and non-motor symptoms. Our aim in this systematic review is to compose and assess current knowledge in the field and determine if the findings could influence future clinical practice as well as therapy in PD.
We have conducted a systematic review according to PRISMA guidelines through MEDLINE and Embase databases, with studies being selected for inclusion via a set inclusion and exclusion criteria.
20 studies were included in this systematic review according to the selected inclusion and exclusion criteria. The search yielded 18 case control studies, 1 case study, and 1 prospective case study with no controls. The total number of PD patients encompassed in the studies cited in this review is 1,511.
The link between gut microbiota and neurodegeneration is a complex one and it depends on various factors. The relative abundance of various microbiota taxa in the gut has been consistently shown to have a correlation with motor and non-motor symptom severity. The answer could lie in the products of gut microbiota metabolism which have also been linked to PD. Further research is thus warranted in the field, with a focus on the metabolic function of gut microbiota in relation to motor and non-motor symptoms.
Parkinson's disease is a neurological disorder that affects motor function, autonomic functions, and cognitive abilities. It is likely that both genetic and environmental factors, along with age, ...contribute to the cause. However, there is no comprehensive guideline for genetic testing for Parkinson's disease, and more research is needed to understand genetic variations in different populations. There has been no research on the genetic background of Parkinson's disease in Croatia so far. Therefore, with the GiOPARK project, we aimed to investigate the genetic variants responsible for Parkinson's disease in 153 Croatian patients with early onset, familial onset, and sporadic late-onset using whole-exome sequencing, along with multiplex ligation-dependent probe amplification and Sanger sequencing in select patients. We found causative variants in 7.84% of the patients, with GBA being the most common gene (4.58%), followed by PRKN (1.96%), ITM2B (0.65%), and MAPT (0.65%). Moreover, variants of uncertain significance were identified in 26.14% of the patients. The causative variants were found in all three subgroups, indicating that genetic factors play a role in all the analyzed Parkinson's disease subtypes. This study emphasizes the need for more inclusive research and improved guidelines to better understand the genetic basis of Parkinson's disease and facilitate more effective clinical management.
Our aim was to determine the frequency and characteristics of neurological post-COVID-19 syndrome and the diagnostic and therapeutic measures that were used for the treatment of these patients. Data ...were collected for 243 patients examined during the period of 11 May 2021 to 22 June 2022. The inclusion criteria were COVID-19 illness and neurological symptoms associated with COVID-19. The exclusion criteria were non-neurological symptoms, patients who did not suffer from COVID-19, and symptoms that occurred after vaccination against the SARS-CoV-2 virus. Data for 227 patients with neurological post-COVID-19 symptoms were analyzed. Most patients presented with multiple symptoms, most often headache, cognitive impairment, loss of smell, paresthesia, fatigue, dizziness, and insomnia. Patients were most often referred for consultative examinations, neuroradiological imaging, and EEG. The therapy was mostly symptomatic. Most patients had no change in their symptoms on follow-up visits (53.21%), while positive outcome was found in 44.95% of patients. This study found that neurological post-COVID-19 syndrome appears to be more common in women, and generally, the most common symptoms are headache and cognitive impairment. The gender distribution of symptoms was clearly visible and should be further investigated. There is a need for longitudinal follow-up studies to better understand the disease dynamic.
Cilj: Prikazati ishod duboke moždane stimulacije (engl. Deep brain stimulation, DBS), tijekom vremenskog razdoblja od 2,5 godine, u sedamdeset osmogodišnje pacijentice koja boluje od Parkinsonove ...bolesti (PB) rezistentne na lijekove. Prikaz slučaja: Prikazujemo slučaj pacijentice u dobi od 74 godine koja je bila zainteresirana za DBS zbog PB-a rezistentnog na lijekove. Bolest se manifestirala u obliku tremora lijeve ruke i noge te je uvelike narušavala njezinu kvalitetu života. U dobi od 75 godina ugrađen joj je DBS u suptalamičke jezgre (engl. subthalamic nucleus, STN) obostrano. Na prvom poslijeoperacijskom kontrolnom pregledu ustanovljeno je da nakon stimulacije gotovo nije bilo tremora i govor je bio uredan. Stimulacije elektroda bile su postavljene desno (D 0- 2.1 V 90 μs 130 Hz) i lijevo (L 8- 0.8 V 90 μs 130 Hz). Tijekom 2,5 godine pacijentica je redovito kontrolirana i stimulacija elektroda bila je izmijenjena u dva navrata. Na zadnjem kontrolnom pregledu navela je da je nesmetano obavljala svakodnevne aktivnosti te se čak i bavila pletenjem, što prije nije mogla. Također, pacijentica je bila dobro kognitivno očuvana. Razina stimulacije elektroda iznosila je desno – D 0- 2.4 V 90 μs 130 Hz i lijevo – L 8- 1.0 V 90 μs 130 Hz. Zaključak: Kod pažljivo odabranih kandidata, koji duže godina boluju od PB-a rezistentnog na medikamentoznu terapiju, dob iznad 70 godina ne bi trebala predstavljati kontraindikaciju za DBS STN. Prikazani slučaj pokazuje da DBS STN može biti koristan u smanjenju simptoma i time značajno poboljšati kvalitetu života takvih pacijenata.
Aim: To present the outcome of deep brain stimulation (DBS) through a time period of 2.5 years, in a seventy-eight-year-old female suffering from drug-resistant Parkinson’s disease (PD). Case report: We present the case of a 74-year-old patient who was interested in DBS due to drug-resistant PD. The disease manifested itself in the form of tremor of the left arm and leg and greatly impaired her quality of life. At the age of 75, she was embedded with DBS in the subthalamic nuclei (STN) bilaterally. At the first postoperative check-up, it was found that there was almost no tremor after stimulation and the speech was orderly. Electrode stimulations were placed on the right (D 0- 2.1 V 90 μs 130 Hz) and on the left (L 8- 0.8 V 90 μs 130 Hz). Over a period of 2.5 years, the patient was regularly monitored and electrode stimulation was changed twice. At the last check-up, she stated that she performed her daily activities without hindrance and in her free time she was even knitting, what she couldn’t do before. Also, the patient was well cognitively preserved. The level of electrode stimulation was right (D 0– 2.4 V 90 μs 130 Hz) and left (L 8- 1.0 V 90 μs 130 Hz). Conclusion: In carefully selected candidates, who have been suffering from drug-resistant PD for many years, age over 70 years should not be a contraindication for DBS STN. The presented case shows that DBS STN can be useful in reducing symptoms and thus significantly improve the quality of life in such patients.
To assess the effect of social isolation due to the coronavirus disease 2019 (COVID-19) pandemic on physical and mental health of Parkinson's disease patients treated at the University Hospital ...Center Rijeka.
This cross-sectional telephone study involved Parkinson's disease patients who had at least one control examination at University Hospital Center Rijeka in 2020 and were Croatian citizens. A questionnaire was used to obtain data on the socio-demographic characteristics and the severity of motor, anxiety, depression, and non-motor symptoms.
The final sample included 87 patients. Most patients reported subjective worsening of motor symptoms. Patients who lived alone had worse motor scores than those not living alone. The majority of patients reported worsening of anxiety symptoms. Significant worsening of anxiety symptoms was found in patients who lived alone, had a longer disease duration, and had avoided check-ups. Fewer patients had depression symptoms than motor and anxiety symptoms. Significantly higher Hamilton Depression Rating Scale scores were observed in patients with a longer disease duration. Significant worsening of non-motor symptoms was identified in patients who lived alone, were less educated, had a longer disease duration, and had a higher Charlson comorbidity index.
Patients who live alone, have longer disease duration, are less educated, avoid check-ups, and have more comorbidities are more vulnerable to the negative effects of social isolation.
Emergencies in movement disorders Hero, Mario; Rački, Valentino; Vuletić, Vladimira
Rad Hrvatske akademije znanosti i umjetnosti (1991). Medicinske znanosti,
12/2021, Volume:
548, Issue:
56-57
Journal Article
Open access
Movement disorders constitute a large group of diseases that affect the control of voluntary motor activity without a direct impact on sensation and strength. Usual clinical course is slow, ...progressive and can be treated in an outpatient clinic. However, there are several emergencies regarding movement disorders that are serious medical conditions and may result in death if not recognized and treated promptly. Every neurologist should be aware of these states because they can develop during the course of a patient’s illness. The aim of this review is to provide key features of the most common emergen- cies in movement disorders, including drug-induced emergencies, emergencies in Parkinson’s disease, chorea and ballismus, tics, myoclonus and dystonia.
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions, leading to abnormal involuntary movements or postures. Although the pathogenesis of dystonia is not ...entirely understood, lack of intracortical inhibition, aberrant sensory integration and derangement of neural plasticity are known to contribute. Etiologically, dystonia can be idiopathic, acquired or heredi- tary, most commonly occurring with TOR1A, THAP1, GCH1, and KMT2B mutations. The clas- sification of dystonia is based on two main axes: clinical features (Axis I) and etiology (Axis II). When it comes to treatment a variety of therapeutic options are available, including oral medication therapy, intramuscular injections of botulinum neurotoxins (BoNTs), physical and occupational therapy and invasive neurosurgical treatment. Deep brain stimulation (DBS) is an established neurosurgical treat- ment for medication-refractory dystonia. As more evidence suggests that DBS treatment outcomes may be related to a hereditary basis, genotype determination is an important factor to consider in patient selection and prognostic counselling.
Emergencies in movement disorders Hero, Mario; Rački, Valentino; Vuletić, Vladimira
Rad Hrvatske akademije znanosti i umjetnosti (1991). Medicinske znanosti,
2021, Volume:
56-57
Journal Article
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