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JOURNAL ARTICLE
Nobutaka Hattori, Manabu Funayama, Yuzuru Imai, Taku Hatano
Twenty-five years have passed since the causative gene for familial Parkinson's disease (PD), Parkin (now PRKN), was identified in 1998; PRKN is the most common causative gene in young-onset PD. Parkin encodes a ubiquitin-protein ligase, and Parkin is involved in mitophagy, a type of macroautophagy, in concert with PTEN-induced kinase 1 (PINK1). Both gene products are also involved in mitochondrial quality control. Among the many genetic PD-causing genes discovered, discovering PRKN as a cause of juvenile-onset PD has significantly impacted other neurodegenerative disorders...
March 13, 2024: Journal of Neural Transmission
#22
JOURNAL ARTICLE
Arif Abdulbaki, Johannes C Wöhrle, Christian Blahak, Ralf Weigel, Katja Kollewe, H Holger Capelle, Hansjörg Bäzner, Joachim K Krauss
The different peaks of somatosensory-evoked potentials (SEP) originate from a variety of anatomical sites in the central nervous system. The origin of the median nerve subcortical N18 SEP has been studied under various conditions, but the exact site of its generation is still unclear. While it has been claimed to be located in the thalamic region, other studies indicated its possible origin below the pontomedullary junction. Here, we scrutinized and compared SEP recordings from median nerve stimulation through deep brain stimulation (DBS) electrodes implanted in various subcortical targets...
March 8, 2024: Journal of Neural Transmission
#23
JOURNAL ARTICLE
Monserrat Avila-Zozaya, Venetia Zachariou
Synthetic and semi-synthetic opioids are prescribed for the management of severe pain conditions, but their long-term use is often leading to physical dependence and addiction disorders. Understanding the complex neurobiology of the opioid system in preclinical models will be essential for the development of safe and efficacious analgesics. With rising numbers of synthetic opioid users and overdose cases, a better understanding of the neuroanatomical and cellular pathways associated with physical dependence and addiction is expected to guide treatment approaches for opioid use disorders...
March 4, 2024: Journal of Neural Transmission
#24
JOURNAL ARTICLE
Shweta Prasad, Jitender Saini, Rose Dawn Bharath, Pramod Kumar Pal
Tremor dominant Parkinson's disease (TDPD) and essential tremor plus (ETP) syndrome are commonly encountered tremor dominant neurological disorders. Although the basal ganglia thalamocortical (BGTC) and cerebello thalamocortical (CTC) networks are implicated in tremorogenesis, the extent of functional connectivity alterations across disorders is uncertain. This study aims to evaluate functional connectivity of the BGTC and CTC in TDPD and ETP. Resting state functional MRI was acquired for 25 patients with TDPD, ETP and 22 healthy controls (HC)...
March 2, 2024: Journal of Neural Transmission
#25
JOURNAL ARTICLE
André Wannemueller, Jürgen Margraf, Martin Busch, Hans-Peter Jöhren, Boris Suchan
Hyperactivation of brain networks conferring defensive mobilization is assumed to underlie inappropriate defensive-preparation in patients with Specific Phobia. However, studies targeting Dental Phobia (DP) yielded quite heterogeneous results and research concerning the effects of exposure treatments on phobic brain activation so far is missing. This functional Magnetic Resonance Imaging (fMRI) study aimed to investigate activation patterns in DP patients during exposure to phobia-related stimuli and the effects of an exposure-based fear treatment on phobia-related activation...
March 1, 2024: Journal of Neural Transmission
#26
JOURNAL ARTICLE
Radim Krupička, Christiane Malá, Slávka Neťuková, Tereza Hubená, Filip Havlík, Ondrej Bezdicek, Petr Dušek, Evžen Růžička
In Parkinson's disease (PD), impaired gait and cognition affect daily activities, particularly in the more advanced stages of the disease. This study investigated the relationship between gait parameters, cognitive performance, and brain morphology in patients with early untreated PD. 64 drug-naive PD patients and 47 healthy controls (HC) participated in the study. Single- and dual-task gait (counting task) were examined using an expanded Timed Up & Go Test measured on a GaitRite walkway. Measurements included gait speed, stride length, and cadence...
February 28, 2024: Journal of Neural Transmission
#27
JOURNAL ARTICLE
Sergio Perez-Oliveira, Daniel Vazquez-Coto, Sara Pardo, Marta Blázquez-Estrada, Manuel Menéndez-González, Pablo Siso, Esther Suárez, Ciara García-Fernández, Beatriz de la Casa Fages, Eliecer Coto, Victoria Álvarez
The NF-κB pathway is involved in the pathogenesis of neurological disorders that have inflammation as a hallmark, including Parkinson's disease (PD). Our objective was to determine whether common functional variants in the NFKB1, NFKBIA and NFKBIZ genes were associated with the risk of PD. A total of 532 Spanish PD cases (61% male; 38% early-onset, ≤ 55 years) and 300 population controls (50% ≤55 years) were genotyped for the NFKB1 rs28362491 and rs7667496, NFKBIA rs696, and NFKBIZ rs1398608 polymorphisms...
February 28, 2024: Journal of Neural Transmission
#28
JOURNAL ARTICLE
Raluca Ștefania Badea, N Grecu, A C Ribigan, F Antochi, C Tiu, B O Popescu
Patent foramen ovale (PFO) is a common cardiac anomaly linked with cryptogenic strokes and migraine, particularly migraine with aura. This study aims to explore the spectrum of headache disorders in PFO patients, focusing on identifying patterns beyond the well-established migraine-PFO connection. A retrospective observational study was conducted on patients diagnosed with PFO. Headache types were classified using the International Classification of Headache Disorders, 3rd edition. The study analyzed headache prevalence and patterns in PFO patients, comparing those with and without a history of stroke...
February 28, 2024: Journal of Neural Transmission
#29
REVIEW
Luana Carvalho, Amy W Lasek
Alternative splicing is a co-transcriptional process that significantly contributes to the molecular landscape of the cell. It plays a multifaceted role in shaping gene transcription, protein diversity, and functional adaptability in response to environmental cues. Recent studies demonstrate that drugs of abuse have a profound impact on alternative splicing patterns within different brain regions. Drugs like alcohol and cocaine modify the expression of genes responsible for encoding splicing factors, thereby influencing alternative splicing of crucial genes involved in neurotransmission, neurogenesis, and neuroinflammation...
February 24, 2024: Journal of Neural Transmission
#30
JOURNAL ARTICLE
Sarah Idrissi, Vittorio Velucci, Marcello Esposito, Assunta Trinchillo, Francesco Habestwallner, Daniele Belvisi, Giovanni Fabbrini, Gina Ferrazzano, Vincenzo Rizzo, Carmen Terranova, Paolo Girlanda, Roberta Pellicciari, Laura Avanzino, Francesca Di Biasio, Roberta Marchese, Francesco Bono, Giovanni Idone, Vincenzo Laterza, Christian Lettieri, Sara Rinaldo, Roberto Eleopra, Anna Castagna, Maria Concetta Altavista, Vincenzo Moschella, Roberto Erro, Paolo Barone, Pierangelo Barbero, Roberto Ceravolo, Sonia Mazzucchi, Marcello Mario Mascia, Tommaso Ercoli, Antonella Muroni, Maurizio Zibetti, Leonardo Lopiano, Cesa Lorella Maria Scaglione, Anna Rita Bentivoglio, Martina Petracca, Luca Magistrelli, Maria Sofia Cotelli, Giovanni Cossu, Giovanna Maddalena Squintani, Tiziana De Santis, Tommaso Schirinzi, Salvatore Misceo, Antonio Pisani, Alfredo Berardelli, Giovanni Defazio
A few earlier observations and recent controlled studies pointed to the possible contribution of thyroid diseases in idiopathic adult-onset dystonia (IAOD). The aim of this study was to investigate the association between thyroid status and clinical characteristics of IAOD, focusing on dystonia localization, spread, and associated features such as tremors and sensory tricks. Patients were identified from those included in the Italian Dystonia Registry, a multicentre dataset of patients with adult-onset dystonia...
February 20, 2024: Journal of Neural Transmission
#31
JOURNAL ARTICLE
Michela Ferrucci, Paola Lenzi, Gloria Lazzeri, Carla L Busceti, Alessandro Frati, Stefano Puglisi-Allegra, Francesco Fornai
Methamphetamine (METH) produces a cytopathology, which is rather specific within catecholamine neurons both in vitro and ex vivo, in animal models and chronic METH abusers. This led some authors to postulate a sort of parallelism between METH cytopathology and cell damage in Parkinson's disease (PD). In fact, METH increases and aggregates alpha-syn proto-fibrils along with producing spreading of alpha-syn. Although alpha-syn is considered to be the major component of aggregates and inclusions developing within diseased catecholamine neurons including classic Lewy body (LB), at present, no study provided a quantitative assessment of this protein in situ, neither following METH nor in LB occurring in PD...
February 17, 2024: Journal of Neural Transmission
#32
JOURNAL ARTICLE
Alexandra Rhally, Giulia Bommarito, Marjolaine Uginet, Gautier Breville, Patrick Stancu, Alice Accorroni, Frédéric Assal, Patrice H Lalive, Karl-Olof Lövblad, Gilles Allali
OBJECTIVES: Acute encephalopathy (AE) has been described as a severe complication of COVID-19. Inflammation has been suggested as a pathogenic mechanism, with high-dose glucocorticoids (GC) showing a beneficial effect. Here, we retrospectively analyzed the clinical and radiological features in a group of COVID-19 AE patients who received GC treatment (GT) and in a non-treated (NT) group. METHOD: Thirty-six patients with COVID-19 AE (mean age 72.6 [Formula: see text] 11 years; 86...
February 16, 2024: Journal of Neural Transmission
#33
JOURNAL ARTICLE
Johanna Engel, Beatrice Haack, Oliver Zolk, Timo Greiner, Martin Heinze, Sermin Toto, Johanna Seifert, Stefan Bleich, Catherine Glocker, Renate Grohmann, Michael Schneider, Susanne Stübner
Edema as an adverse drug reaction is a commonly underestimated yet potentially debilitating condition. This study analyzes the incidence of severe psychotropic drug-induced edema (e.g., edema affecting the face, legs, or multiple body parts and lasting for more than 1 week, or in any case necessitating subsequent diuretic use) among psychiatric inpatients. The cases under examination are derived from an observational pharmacovigilance program conducted in German-speaking countries ("Arzneimittelsicherheit in der Psychiatrie", AMSP) from 1993 to 2016...
February 14, 2024: Journal of Neural Transmission
#34
REVIEW
Kurt A Jellinger
Huntington's disease (HD) is an autosomal-dominant progressive neurodegenerative disease that manifests with a triad of symptoms including motor dysfunctions, cognitive deficits, and prominent neuropsychiatric symptoms, the most common of which is depression, with a prevalence between 30 and 70%. Depressive symptoms occur in all stages of HD, beginning in presymptomatic HD gene carriers, and are strongly associated with suicidal ideation and suicidality, but their relationship with other clinical dimensions in HD is controversial and the underlying pathophysiology is poorly understood...
February 13, 2024: Journal of Neural Transmission
#35
REVIEW
Juliane K Mueller, Walter E Müller
Cognitive impairment, depression and (mental) fatigue represent the most frequent neuropsychiatric symptoms of the post-COVID syndrome. Neuroinflammation, oxidative stress and mitochondrial dysfunction have been identified as common pathophysiological mechanisms underlying these symptoms. Attempts to treat post-COVID-associated cognitive impairment and fatigue with different drugs available for other diseases have not yet been successful. One probable explanation could be that these drugs work by one specific mechanism of action only and not in a broad multi-target way...
February 12, 2024: Journal of Neural Transmission
#36
REVIEW
Kurt A Jellinger
Depression is one of the most frequent neuropsychiatric symptoms in corticobasal degeneration (CBD), a rare, sporadic, and late-onset progressive neurodegenerative disorder of unknown etiology. It is clinically characterized by a levodopa-poorly responsible akinetic-rigid syndrome, apraxia, limb dystonia, cognitive, mood, behavioral, and language disorders. This 4-repeat (4R) tauopathy is morphologically featured by asymmetric frontoparietal atrophy, neuronal loss, and gliosis in cortex and subcortex including substantia nigra, ballooned/achromatic neurons with filamentous 4R tau aggregates in cortex and striatum, widespread thread-like structures, pathognomonic "astroglial plaques", "tufted astrocytes", and numerous "coiled bodies" (in astrocytes and oligodendroglia) in cerebral white matter...
March 2024: Journal of Neural Transmission
#37
JOURNAL ARTICLE
Seoyeon Kim, Ji-Hyun Choi, Kyung Ah Woo, Jae Young Joo, Beomseok Jeon, Jee-Young Lee
Visuoperceptual dysfunction is common in Parkinson's disease (PD) and is also reported in its prodromal phase, isolated REM sleep behavior disorder (iRBD). We aimed to investigate color discrimination ability and complex visual illusions known as pareidolias in patients with iRBD and PD compared to healthy controls, and their associating clinical factors. 46 iRBD, 43 PD, and 64 healthy controls performed the Farnsworth-Munsell 100 hue test and noise pareidolia tests. Any relationship between those two visual functions and associations with prodromal motor and non-motor manifestations were evaluated, including MDS-UPDRS part I to III, Cross-Cultural Smell Identification Test, sleep questionnaires, and comprehensive neuropsychological assessment...
February 2024: Journal of Neural Transmission
#38
RANDOMIZED CONTROLLED TRIAL
Clara Simonetta, Jacopo Bissacco, Matteo Conti, Roberta Bovenzi, Chiara Salimei, Rocco Cerroni, Mariangela Pierantozzi, Alessandro Stefani, Nicola Biagio Mercuri, Tommaso Schirinzi
Early-onset Parkinson's Disease (EOPD) demands tailored treatments. The younger age of patients might account for a higher sensitivity to transcranial direct current stimulation (tDCS) based non-invasive neuromodulation, which may raise as an integrative therapy in the field. Accordingly, here we assessed the safety and efficacy of the primary left motor cortex (M1) anodal tDCS in EOPD. Ten idiopathic EOPD patients received tDCS at 2.0 mA per 20 min for 10 days within a crossover, double-blind, sham-controlled pilot study...
February 2024: Journal of Neural Transmission
#39
JOURNAL ARTICLE
Giovanni Palermo, Alessandro Galgani, Gabriele Bellini, Francesco Lombardo, Nicola Martini, Riccardo Morganti, Davide Paoli, Sara De Cori, Francesca Frijia, Gabriele Siciliano, Roberto Ceravolo, Filippo Sean Giorgi
Locus coeruleus (LC) is the main noradrenergic nucleus of the brain, and degenerates early in Parkinson's disease (PD). The objective of this study is to test whether degeneration of the LC is associated with orthostatic hypotension (OH) in PD. A total of 22 cognitively intact PD patients and 52 age-matched healthy volunteers underwent 3 T magnetic resonance (MRI) with neuromelanin-sensitive T1-weighted sequences (LC-MRI). For each subject, a template space-based LC-MRI was used to calculate LC signal intensity (LC contrast ratio-LCCR ) and the estimated number of voxels (LCVOX ) belonging to LC...
February 2024: Journal of Neural Transmission
#40
REVIEW
Ute Hidding, Tina Mainka, Carsten Buhmann
The use of medical Cannabis has increased in recent years due to changing legal circumstances in many countries. Approval exists only for a few neurological conditions such as rare forms of epilepsy or spasticity in multiple sclerosis. Beyond that, however, medical Cannabis is used for a wide range of neurological conditions and symptoms. In Germany, in parallel with new legislation that has simplified the prescription of medical Cannabis, an accompanying survey has been implemented for which initial data are now available...
February 2024: Journal of Neural Transmission
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