Simultaneous Robotic-Assisted Laser Thermal Ablation of Multiple Cortical Tubers for Drug-Resistant Epilepsy in a 17-Year-Old Patient with Tuberous Sclerosis Complex.

Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) is a new minimally invasive treatment for tuberous sclerosis complex (TSC)-associated epilepsy in children. This video describes a case of a 17-year-old girl with TSC-associated drug-resistant epilepsy treated with robotic-assisted MRgLITT. In our case, MRgLITT was safe and effective in simultaneous targeting of multiple epileptic tubers in 1 single procedure, leading to a marked decrease in seizure frequency.

Low-grade epilepsy-associated tumors: Epilepsy outcome and antiseizure medication discontinuation after lesionectomies as first-line surgical approach in pediatric population.

Objective: This study aimed to evaluate epilepsy outcome and antiseizure medication (ASM) discontinuation after lesionectomies as first surgical approach in pediatric population diagnosed with low-grade epilepsy-associated neuroepithelial tumors (LEATs).

Methods: We conducted a retrospective study. Thirty-six consecutive patients with histological diagnoses of LEATs who underwent surgery between 2018 and 2021 at our institution were included.

Immediate and progressive neurological damage after electrical injury: A pediatric case report.

Background: An electrical injury can cause multiple consequences, especially to the nervous system, both peripheral and central. Such consequences may present immediately as well as later on.

Aims Of The Study: To report on a case of a 5-year-old boy with focal refractory status epilepticus after an electrical injury.

Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease.

Variants in , encoding an assembly factor of mitochondrial respiratory chain complex IV, cause Leigh syndrome (LS) and Charcot-Marie-Tooth type 4K in children and young adolescents. Magnetic resonance imaging (MRI) appearance of enlarged nerve roots with postcontrastographic enhancement is a distinctive feature of hypertrophic neuropathy caused by onion-bulb formation and it has rarely been described in mitochondrial diseases (MDs). Spinal nerve roots abnormalities on MRI are novel findings in LS associated with variants .

DNA methylation of the 5'-UTR DAT 1 gene in Parkinson's disease patients.

Objectives: The involvement of epigenetics mechanisms in the transcriptional regulation of key genes has been investigated in the initiation and progression of neurodegenerative disorders, including Parkinson's disease (PD). Among others, we, here, focused the attention on the dopamine transporter (DAT) gene playing a critical role in maintaining the integrity of dopaminergic neurons.

Materials And Methods: We performed bisulfite pyrosequencing to examine DNA methylation levels of six CpG sites in the 5'-UTR of DAT1 gene in human peripheral blood mononuclear cells (PBMCs) obtained from 101 sporadic PD patients and 59 healthy controls.

DAT gene polymorphisms (rs28363170, rs393795) and levodopa-induced dyskinesias in Parkinson's disease.

L-dopa-induced dyskinesias (LID) is a common motor side effect of levodopa therapy of Parkinson's disease (PD). The identified predictors may only partially account for the risk of developing LID and genetic factors may contribute to this variability. The present study is aimed to investigate whether polymorphisms in the dopamine transporter gene (DAT) are associated with the risk of developing LID.

Genetic Architecture of MAPT Gene Region in Parkinson Disease Subtypes.

The microtubule-associated protein tau (MAPT) region has been conceptualized as a model of the interaction between genetics and functional disease outcomes in neurodegenerative disorders, such as Parkinson disease (PD). Indeed, haplotype-specific differences in expression and alternative splicing of MAPT transcripts affect cellular functions at different levels, increasing susceptibility to a range of neurodegenerative processes. In order to evaluate a possible link between MAPT variants, PD risk and PD motor phenotype, we analyzed the genetic architecture of MAPT in a cohort of PD patients.

Is cognitive stability in Parkinson's disease a predictable phenomenon? A 5-year follow-up study.

Cognitive disturbances are integral to the course of PD but the rate of cognitive decline remains largely unpredictable. The aim of this study was to determine the clinical features associated with "cognitive stability". Fifty-four patients (32 with normal cognition and 22 featuring MCI) were recruited in 2009 and re-evaluated after a mean time of 4.

Does a volume reduction of the parietal lobe contribute to freezing of gait in Parkinson's disease?

Background: Freezing of gait (FOG) is as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk. Structural neuroimaging studies on FOG in PD using volumetric techniques yielded variable and partially conflicting findings, probably reflecting the heterogeneity and complexity of the phenomenon. The aim of this study was to further explore the differences in local gray matter (GM) volume in patients with PD with and without FOG by using Voxel-Based Morphometry (VBM).

Excessive daytime sleepiness in multiple system atrophy (SLEEMSA study).

Background: Sleep disorders are common in multiple system atrophy (MSA), but the prevalence of excessive daytime sleepiness (EDS) is not well known.

Objective: To assess the frequency and associations of EDS in MSA.

Design: Survey of EDS in consecutive patients with MSA and comparison with patients with Parkinson disease (PD) and individuals without known neurologic disease.

Bladder symptoms assessed with overactive bladder questionnaire in Parkinson's disease.

In Parkinson's disease (PD) the urinary dysfunction manifests primarily with symptoms of overactive bladder (OAB). The OAB questionnaire (OAB-q) is a measure designed to assess the impact of OAB symptoms on health-related quality of life. In this study, we quantified the urinary symptoms in a large cohort of PD patients by using the OAB-q short form.

Sexual dysfunction in Parkinson's disease.

Sexual dysfunction is one of the more disabling and poorly investigated aspects of PD. Several variables should be considered when evaluating sexual dysfunction in a disease in which physical, psychological, neurobiological and pharmacological features merge and are not easily distinguishable. Although sexual dysfunction is common in Parkinson's disease, the development of hypersexuality and aberrant sexual behaviour, probably due to dopamine replacement therapy, calls into question the role of dopamine in sexual behaviour.

High prevalence of extrapyramidal signs and symptoms in a group of Italian dental technicians.

Background: Occupational and chronic exposure to solvents and metals is considered a possible risk factor for Parkinson's disease and essential tremor. While manufacturing dental prostheses, dental technicians are exposed to numerous chemicals that contain toxins known to affect the central nervous system, such as solvents (which contain n-hexane in particular) and metals (which contain mercury, iron, chromium, cobalt and nickel).

Methods: We performed an epidemiological and clinical study on all 27 dental technicians working in a school for dental technicians.