Illustration of the Long-Term Efficacy of Pallidal Deep Brain Stimulation in a Patient with PKAN Dystonia
Pantothenate kinase-associated neurodegeneration (PKAN, PANK2, OMIM ID: 234200) represents the most common subtype of neurodegeneration associated with brain iron accumulation (NBIA). Treatment could be challenging due to the combination of severe motor and nonmotor features. Deep Brain Stimulation (DBS) may be a promising treatment for dystonia in selected PKAN patients [1]; however, due to the rarity of this genetic condition, the long-term efficacy of DBS on symptoms and disease evolution is unclear, as is its impact on patient independence. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 24, 2024 Category: Neurology Authors: Luigi M. Romito, Fabiana Colucci, Giovanna Zorzi, Barbara Garavaglia, Ahmet Kaymak, Alberto Mazzoni, Celeste Panteghini, Nico Golfr è Andreasi, Sara Rinaldo, Vincenzo Levi, Miryam Carecchio, Roberto Eleopra Source Type: research
Combined blood Neurofilament light chain and third ventricle width to differentiate Progressive Supranuclear Palsy from Parkinson's Disease: a machine learning study
In this study, we explored the performance of machine learning models based on MR imaging and blood molecular biomarkers in distinguishing between these two neurodegenerative diseases. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 24, 2024 Category: Neurology Authors: Maria Giovanna Bianco, Costanza Maria Cristiani, Luana Scaramuzzino, Alessia Sarica, Antonio Augimeri, Ilaria Chimento, Jolanda Buonocore, Elvira Immacolata Parrotta, Andrea Quattrone, Gianni Cuda, Aldo Quattrone Source Type: research
Surgicogenomics in GBA1-Related Parkinson Disease: Is the Glass Half Full or Half Empty?
Genetic markers have been instrumental in our pursuit to fully understand Parkinson disease (PD), and “surgicogenomics” offers a promising new approach to further improve our decision-making for deep brain stimulation (DBS). But could this emerging knowledge be a game-changer in our clinical practice? So far, expectations seem to exceed applicability. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 23, 2024 Category: Neurology Authors: Philippe A. Salles, Hubert H. Fern ández, Ignacio M. Mata Source Type: research
Unveiling the nexus: Understanding post-COVID parkinsonism and its neurological ramifications
This article explores the potential link between COVID-19 and parkinsonism, synthesizing existing evidence and recent research findings. It highlights limitations in current understanding, emphasizes the direct impact of the virus on dopamine neurons, and calls for continued research to elucidate long-term neurological implications and optimize patient care strategies. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 22, 2024 Category: Neurology Authors: Chia Siang Kow, Dinesh Sangarran Ramachandram, Syed Shahzad Hasan, Kaeshaelya Thiruchelvam Source Type: research
PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: a case report
We report the clinical evaluation and neuroimaging studies of a woman with intellectual disability and levodopa-responsive akinetic rigid parkinsonism. Whole-genome sequencing of family trio identified a de novo missense variant in PPP2R5D in the proband. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 22, 2024 Category: Neurology Authors: Wai Yan Yau, Srimathy Vijayan, Gianina Ravenscroft Source Type: research
Combined Diagnosis for Parkinson ’s Disease via Gait and Eye Movement Disorders
With the discovery of the potential role of gait and eye movement disorders in Parkinson ’s disease (PD) recognition, we intend to investigate the combined diagnostic value of gait and eye movement disorders for PD. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 22, 2024 Category: Neurology Authors: Han Li, Wenqi Ma, Chengqian Li, Qiqing He, Yuting Zhou, Anmu Xie Source Type: research
Orthostatic Hypotension in Parkinson's disease: Sit-to-Stand vs. Supine-to-Stand Protocol and Clinical Correlates
Screening for orthostatic hypotension (OH) is integral in Parkinson ’s disease (PD) management, yet evidence-based guidelines on best practice methods for diagnosing OH in PD are lacking. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 22, 2024 Category: Neurology Authors: Kai Bin Lim, Shen-Yang Lim, Jia Wei Hor, Heamah Krishnan, Firdaus Mortadza, Jia Lun Lim, Karuthan Chinna, Nor Izzati Saedon, Ai Huey Tan Source Type: research
The p.Val234Met LRP10 likely pathogenic variant associated with Parkinson ’s Disease: possible molecular implications.
the LRP10 gene has been associated with Lewy Body Diseases, including PD, Parkinson ’s Disease Dementia (PDD) and Dementia with Lewy Bodies (DLB) and it is characterised by autosomal dominant inheritance. In recent years, multiple studies have linked LRP10 pathogenic variants to PD, but the role played by the protein in the pathogenetic process is still unclear [1, 2]. Studies on patients carrying LRP10 pathological variants showed co-staining between LRP10 and α-synuclein in Levi’s Bodies present Substantia nigra pars compacta and in the core of brainstem type, but functional significance of this interaction remains ...
Source: Parkinsonism and Related Disorders - April 17, 2024 Category: Neurology Authors: Andrea Pilotto, Mattia Carini, Alessandro Lupini, Alessio di Fonzo, Eugenio Monti, Roberto Bresciani, Alessandro Padovani, Giorgio Biasiotto Source Type: research
Cerebellar blood perfusion is a diagnostic, but not a prognostic, marker for parkinsonian-dominant type multiple system atrophy.
Multiple system atrophy (MSA) is clinically characterized by various neurological symptoms. According to the diagnostic criteria, MSA is classified into parkinsonian-dominant type (MSA-P) or cerebellar ataxia-dominant type (MSA-C) based on the predominant signs displayed. Recently, N-isopropyl-p-[123I] iodoamphetamine (123I-IMP) single-photon emission computed tomography (SPECT), a radiological examination evaluating brain perfusion, has been successful in detecting cerebellar hypoperfusion in MSA-P patients, demonstrating its utility in the early detection of cerebellar dysfunction. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 16, 2024 Category: Neurology Authors: Kenta Shiina, Taiji Tsunemi, Nobutaka Hattori Source Type: research
Mild Cognitive Impairment among LRRK2 and GBA1 patients with Parkinson's Disease
Mild cognitive impairment (MCI) is common in Parkinson ’s disease (PD). We aimed to assess the incidence of MCI among patients with PD, carriers of mutations in LRRK2 and GBA1 genes, based on the movement disorder society (MDS) criteria for the diagnosis of MCI in early-stage PD. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 16, 2024 Category: Neurology Authors: Avner Thaler, Vered Livne, Einat Rubinstein, Nurit Omer, Achinoam Socher, Batsheva Cohen, Nir Giladi, Julia C. Shirvan, Jesse M. Cedarbaum, Mali Gana-Weisz, Orly Goldstein, Avi Orr-Urtreger, Roy N. Alcalay, Anat Mirelman Source Type: research
Ethnic background and distribution of clinical phenotypes in patients with probable progressive supranuclear palsy
We describe the ethnic and racial background of PSP patients in the Greater Toronto Area (GTA), Canada. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 15, 2024 Category: Neurology Authors: Blas Couto, Daniel G. Di Luca, Jeffrey Antwi, Puja Bhakta, Susan Fox, Maria Carmela Tartaglia, Gabor G. Kovacs, Anthony E. Lang Tags: Short communication Source Type: research
Can symptoms or signs of cervical dystonia occur without abnormal movements of the head or neck?
Cervical dystonia is defined by excessive contraction of muscles that produce abnormal postures and movements of the head, neck, and sometimes the shoulders. Many affected individuals also have pain, local muscle hypertrophy, and/or abnormally increased EMG activity. However, abnormal movements are considered the defining feature. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 15, 2024 Category: Neurology Authors: Mehreen Thayani, H.A. Jinnah Tags: Short communication Source Type: research
Parkinsonism outcomes in different settings: how the type of care matters
Parkinson ’s disease (PD) is the second most prevalent neurodegenerative disease worldwide and probably in the next years the number of individuals affected with PD over age 50 will double [1]. Moreover, there are other neurodegenerative conditions, such as progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA), that along with PD are parkinsonisms (PKM) [2]. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 11, 2024 Category: Neurology Authors: Berta Solano, Ana C ámara, Yaroslau Compta Source Type: research
Spinocerebellar ataxia subtype 40: Report of a case and review of literature
Spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders and are clinically and genetically heterogeneous. Based on the genetic variation, SCAs are grouped into three main categories: i. SCAs caused by expansion of trinucleotides (CAG/polyQ) repeats in the coding region of genes, ii. SCAs caused by repetitive amplification of non-coding regions, and ii. SCAs caused by conventional sequence variants [1]. SCA40 (OMIM # 616053), which is one of the recently described types of autosomal dominant (AD) SCA, belongs to the third category and is caused by heterozygous pathogenic variants in the CCDC88C gene (OMIM *...
Source: Parkinsonism and Related Disorders - April 11, 2024 Category: Neurology Authors: Gautam Kale, Prajnya Rangnathan, Pradeep Divate, M.K. Murthy Jagarlapudi Tags: Correspondence Source Type: research
Longitudinal assessment of blepharospasm severity in patients with long disease duration
Blepharospasm (BSP) represents one of the most common idiopathic adult-onset dystonia. A few longitudinal observations indicated progression and worsening of BSP severity within 16 years of onset. Information is lacking about the trend of BSP severity in the later stages of the disease. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 9, 2024 Category: Neurology Authors: Martino Gentile, Martina Caccamo, Barbara Vitucci, Roberta Pellicciari, Vittorio Velucci, Antonella Muroni, Giovanni Defazio Tags: Short communication Source Type: research
