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
Influence of Anosognosia on Patient-Reported Outcomes for Psychiatric Symptoms and Quality of Life in Huntington ’s Disease
Anosognosia, defined as reduced awareness of one ’s deficit or symptom, is common in Huntington’s disease (HD) and detectable at each disease stage. The impact of anosognosia on self-reporting in HD populations is critical to understand given growing use of patient-reported outcomes in HD clinical care and research. We aimed to determine the i nfluence of anosognosia on patient-reported outcome measures assessing psychiatric symptoms and quality of life in HD. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 8, 2024 Category: Neurology Authors: David A. Isaacs, Kaitlyn R. Hay, Jennifer Hoadley, Katherine E. McDonell, Amy E. Brown, Amy Wynn, Daniel O. Claassen, Jessie Gibson Source Type: research
OFF-Times Before, During, and After Nighttime Sleep Periods in Parkinson ’s Disease Patients with Motor Fluctuations and the Effects of Opicapone: A Post Hoc Analysis of Diary Data from BIPARK-1 and -2
In BIPARK-1 and BIPARK-2, addition of once-daily opicapone to levodopa/carbidopa significantly reduced daily “OFF”-time relative to placebo in adults with Parkinson’s disease (PD) and motor fluctuations. Diary data from these studies were pooled and analyzed post hoc to characterize “OFF”-times around nighttime sleep and to explore the effects of opicapone 50 mg. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 8, 2024 Category: Neurology Authors: Robert A. Hauser, Aleksandar Videnovic, Patr ício Soares-da-Silva, Grace S. Liang, Kurt Olson, Eric Jen, José-Francisco Rocha, Olga Klepitskaya Source Type: research
Fine-Tuning the Brain: The Role of Local Field Potentials in DBS Programming
Since its introduction in 1987, Deep Brain Stimulation (DBS) of the subthalamic nucleus (STN) and globus pallidus (GPi) has become an established surgical treatment for patients with Parkinson ’s disease (PD) who suffer from medically refractory tremor or motor fluctuations. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 4, 2024 Category: Neurology Authors: Mustafa S. Siddiqui, Zoltan Mari Source Type: research
The prevalence of non-troublesome dyskinesia in Parkinson's disease
This study investigated prevalence and severity of dyskinesia, particularly non-troublesome dyskinesia, to provide insights into its significance for long-term PD management. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 3, 2024 Category: Neurology Authors: Hee Jin Chang, Mihee Jang, Kyung Ah Woo, Jung Hwan Shin, Han-Joon Kim, Beomseok Jeon Tags: Short communication Source Type: research
Early-onset levodopa responsive parkinsonism in PPP2R5D mutation
The gene PPP2R5D encodes the regulatory subunit B56 of PP2A, a serine-threonine phosphatase that plays an important regulatory role in cellular processes, including proliferation, apoptosis, and signal transduction, and is primarily expressed in the brain. The de novo missense variants in the gene PPP2R5D are reported to be associated with neurodevelopmental delay, intellectual disability, macrocephaly, motor and coordination deficits, epilepsy, visual impairment, and autism spectrum disorders [1]. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 3, 2024 Category: Neurology Authors: Rohan Mahale, Gautham Arunachal, Deepak Chadha, Hansashree Padmanabha, Pooja M, Mathuranath Pavagada Tags: Correspondence Source Type: research
CSF N-acylethanolamine acid amidase level and Parkinson's disease risk: A mendelian randomization study
This study aimed to explore the causal effect of CSF NAAA levels on PD risk through Mendelian randomization (MR) analysis. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 1, 2024 Category: Neurology Authors: Youjie Zeng, Ren Guo, Si Cao, Chunxia Liu, Heng Yang Source Type: research
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(Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 1, 2024 Category: Neurology Source Type: research
The utility of the irritability scale in Huntington's disease patients with evidence of irritability or aggression
Irritability, a common neuropsychiatric symptom in Huntington's disease (HD), lacks a standardized measurement. The Irritability Scale (IS), tailored for HD, has patient and informant versions, but variable interrater agreement has been reported frequently in previous studies. To enhance the clinical utility of the IS, this study aimed to identify the most reliable components estimating the underlying construct and develop a shortened version for time-limited contexts. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - March 29, 2024 Category: Neurology Authors: Joyce En-Hua Wang, Neal G. Simon, Michael Brownstein, Hilda T. Maibach, Jacob Maibach, Karen Elta Anderson Source Type: research
Predicting slight freezing of gait in Parkinson's disease with anticipatory postural adjustments and limits of stability
We examined the effects of automatic movements (anticipatory postural adjustments [APAs]) and voluntary movements (limits of stability [LOS]) on the first step (first-step duration and first-step range of motion), along with their early recognition and prediction of slight FOG. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - March 29, 2024 Category: Neurology Authors: Weijia Hou, Fan Wu, Yue Wang, Weihua Li, Yuanyuan Cheng, Zhizhong Zhu, Siquan Liang, Peipei Liu, Yang Yu, Jialing Wu Tags: Short communication Source Type: research
Impaired glymphatic clearance in multiple system atrophy: A diffusion spectrum imaging study
Impaired α-synuclein clearance is pivotal in the pathogenesis of neurodegenerative diseases. We evaluated glymphatic clearance in multiple system atrophy (MSA) patients using advanced imaging. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - March 29, 2024 Category: Neurology Authors: Chuanying Shi, Guifang Guo, Weifei Wang, Haiyan Yu, Hua Fan, Peng Wu, Peiji Song, Dianrong Gong Tags: Short communication Source Type: research
