Dystonia and parkinsonism: Not an easy combo
THAP1 gene variations have been classically associated with autosomal dominant focal, segmental and generalized dystonia with variable age at onset. The most frequently described sites of onset are arms and neck, being the latter the most frequently affected anatomical site. In over half of the patients dystonia can spread to the larynx or face, while isolated limb tremor, lower limb dystonia at onset, myoclonus, blepharospasm or isolated laryngeal dystonia are less commonly described [1]. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 14, 2024 Category: Neurology Authors: Marcela Montiel, Alfonso Fasano Source Type: research
Identifying the prevalence of Parkinson's disease in Denmark using healthcare registries and self-reported survey data
Existing estimates of PD prevalence in Denmark are lower than those in the rest of Europe and are based on identification via single registries. Hence, are aim was to use a combined registry/self-report survey approach to identify people with PD and also investigate whether using different registry methods led to differences in the accuracy, completeness and characteristics of the identified cohorts. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 13, 2024 Category: Neurology Authors: Vicky L. Joshi, Knud Juel, Jette Thuesen, Tina Backmann, Kristian Winge, Lars H. Tang, Ann-Dorthe Zwisler, Tina B. Mikkelsen Source Type: research
Functional ataxia in a specialized ataxia center
Functional gait is a disorder of ambulation and balance internally inconsistent and incongruent with the phenotypic spectrum of neurological gait disorders. Objectives: This paper aims to clinically characterize patients with functional ataxia. Methods: Patients with functional ataxia were analyzed out of 1350 patients in Ataxia Unit of the Federal University of S ão Paulo circa 2008 to 2022. Results: Thirteen patients (1 %) presented with functional ataxia; all female, with a median age of 34.8 years. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 12, 2024 Category: Neurology Authors: Lu íza Alves Corazza, Augusto Bragança Reis Rosa, Thiago Yoshinaga Tonholo Silva, Flávio Moura Rezende Filho, Péricles Andrade Maranhão-Filho, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Alberto J. Espay Tags: Short communication Source Type: research
Towards therapeutic electrophysiological neurofeedback in Parkinson's disease
Neurofeedback (NF) techniques support individuals to self-regulate specific features of brain activity, which has been shown to impact behavior and potentially ameliorate clinical symptoms. Electrophysiological NF (epNF) may be particularly impactful for patients with Parkinson's disease (PD), as evidence mounts to suggest a central role of pathological neural oscillations underlying symptoms in PD. Exaggerated beta oscillations (12 –30 Hz) in the basal ganglia-cortical network are linked to motor symptoms (e.g., bradykinesia, rigidity), and beta is reduced by successful therapy with dopaminergic medication and Deep Brai...
Source: Parkinsonism and Related Disorders - January 12, 2024 Category: Neurology Authors: Elena Ubeda Matzilevich, Pria Lauren Daniel, Simon Little Tags: Review article Source Type: research
Tai Chi improves non-motor symptoms of Parkinson's disease: One-year randomized controlled study with the investigation of mechanisms
Tai Chi was found to improve motor symptoms in Parkinson's disease (PD). Whether long-term Tai Chi training could improve non-motor symptoms (NMS) and the related mechanisms were unknown. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 12, 2024 Category: Neurology Authors: Gen Li, Pei Huang, Shishuang Cui, Yachao He, Qinying Jiang, Binyin Li, Yuxin Li, Jin Xu, Zheng Wang, Yuyan Tan, Shengdi Chen Source Type: research
Perceptions of palliative care in Huntington's disease: A qualitative study
This study aims to identify perceptions of palliative care in Huntington's Disease (HD), palliative care needs of people living with HD, and at what point they feel they would benefit from these resources. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 12, 2024 Category: Neurology Authors: B. Heffernan, E. Forbes, L. Seeberger, J. Shattuck, M. Cook, R. Ayele, B.M. Kluger Tags: Short communication Source Type: research
Are LRRK2 p.G2019S or GBA1 variants associated with long-term outcomes of deep brain stimulation for Parkinson's disease?
Deep brain stimulation (DBS) is a well-established treatment option for individuals with advanced Parkinson's disease (PD). The potential influence of the LRRK2 p.G2019S or GBA1 variants on its lasting efficacy and adverse effects should be better characterized. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 12, 2024 Category: Neurology Authors: Saar Anis, Tomer Goldberg, Ethan Shvueli, Yuval Kozlov, Yonatan Redlich, Naama Lavi, Inbar Lavie, Yuri Ludwig Sosero, Ziv Gan-Or, Lior Ungar, Zion Zibly, Lior Greenbaum, Tsvia Fay-Karmon, Sharon Hassin-Baer Tags: Short communication Source Type: research
Corrigendum to “Risk of Parkinson's disease-related death in cancer survivors: A population-based study in Japan” [Park. Relat. Disord. 119 (2024) 105966]
The authors regret that there is an error in Table 3. The correct Table 3 is as follows. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 10, 2024 Category: Neurology Authors: Eri Hayano, Yasufumi Gon, Yasuyoshi Kimura, Ling Zha, Toshitaka Morishima, Yuko Ohno, Hideki Mochizuki, Tomotaka Sobue, Isao Miyashiro Tags: Corrigendum Source Type: research
Keep your eyes peeled for VPS16
Monoallelic and biallelic pathogenic variants in the VPS16 gene (vacuolar protein sorting 16 homolog) are responsible for VPS16-related early-onset dystonia (DYT-VPS16) (OMIM ID: 619291) [1,2]. More severe dystonic phenotype were related to homozygous mutations [3]. Most patients with monoallelic variants have dystonia starting in childhood or young adulthood (mean age 14 years old, range 3 –50) with focal (cervical, upper limb, oromandibular), or generalized dystonia sometimes with a myoclonic component [1,2,4]. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 10, 2024 Category: Neurology Authors: Cl ément Desjardins, Cécile Delorme, Aurélie Méneret, Emmanuel Roze, Bertrand Gaymard, Marie Vidailhet Tags: Correspondence Source Type: research
Real or imagined: We need a new scale for psychosis in Parkinson's disease
The scope and underlying mechanisms of Parkinson's disease psychosis (PDP) are often debated. For instance, does the PDP spectrum include attenuated symptoms like illusions, passage hallucinations, and false sense of presence? [1] Given the striking difference in the prevalence of hallucinations versus delusions, to what extent should delusions be clinically or mechanistically dissociated from hallucinations and other perceptual disturbances? Considering the prominence of visuospatial impairments in PD, how is misperception differentiated from “positive” hallucinatory phenomena? The natural history of PDP is poorly und...
Source: Parkinsonism and Related Disorders - January 10, 2024 Category: Neurology Authors: Gregory M. Pontone, Kelly A. Mills, Roseanne D. Dobkin, Jared T. Hinkle, Melissa J. Nirenberg, Ruth B. Schneider, the PSG Cognitive Psychiatric Working Group Source Type: research
The sound of Parkinson's disease: A model of audible bradykinesia
The objective is to evaluate whether audio signals derived during four MDS-UPDRS tasks can be used to detect and grade bradykinesia, using two machine learning models. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 9, 2024 Category: Neurology Authors: Debbie de Graaf, Rui Ara újo, Madou Derksen, Koos Zwinderman, Nienke M. de Vries, Joanna IntHout, Bastiaan R. Bloem Source Type: research
The association between plasma GPNMB and Parkinson's disease and multiple system atrophy
Parkinson's disease (PD), as the second most common neurodegenerative disorder, often presents diagnostic challenges in differentiation from other forms of Parkinsonism. Recent studies have reported an association between plasma glycoprotein nonmetastatic melanoma protein B (pGPNMB) and PD. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 8, 2024 Category: Neurology Authors: Kai Li, Puzhi Wang, Wen Li, Jia-Hui Yan, Yi-Lun Ge, Jin-Ru Zhang, Fen Wang, Cheng-Jie Mao, Chun-Feng Liu Source Type: research
Abnormal cortical excitability in patients with spinocerebellar ataxia type 12
Spinocerebellar ataxia type 12 (SCA-12) is an uncommon autosomal dominant cerebellar ataxia characterized by action tremors in the upper limbs, dysarthria, head tremor, and gait ataxia. We aimed to evaluate the motor cortical excitability in patients with SCA-12 using transcranial magnetic stimulation (TMS). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 8, 2024 Category: Neurology Authors: Amitabh Bhattacharya, Albert Stezin, Nitish Kamble, Sujas Bhardwaj, Ravi Yadav, Pramod Kumar Pal Source Type: research
Update: Descriptive epidemiology of Parkinson disease
We review the descriptive epidemiology of Parkinson disease (PD). PD is a prevalent neurologic disorder in high Sociodemographic Index (SDI) nations with rising prevalence in low and middle SDI nations. PD became a prevalent disorder in high SDI nations during the 20th century. Population growth, population aging, and increased disease duration are major drivers of rising PD prevalence. Exposure to industrial toxicants may also be a contributor to rising PD prevalence. PD is an aging-related disorder with incidence likely peaking in the 8th decade of life and prevalence in the 9th decade of life. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 8, 2024 Category: Neurology Authors: Nikolas Grotewold, Roger L. Albin Tags: Review article Source Type: research
Increasing Parkinson's disease related mortality through the pandemic and beyond: An update
An increase in mortality from Parkinson's disease (PD) as the underlying cause of death (UCOD) has been reported in the US from March 2020 to March 2022, with a larger excess in the first compared to the second year of the pandemic [1]. In a previous analysis of mortality records from the Veneto region (4.9 million inhabitants, Northeastern Italy), sharp peaks in PD-related mortality were observed during COVID-19 epidemic waves in 2020. The increase in PD-related deaths was more evident in analyses extended to any mention of the disease in death certificates (multiple causes of death – MCOD). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 4, 2024 Category: Neurology Authors: Ugo Fedeli, Giacomo Danieli, Claudio Barbiellini Amidei, Veronica Casotto Tags: Correspondence Source Type: research
