Smartphone applications for Movement Disorders: Towards collaboration and re-use
Numerous smartphone and tablet applications (apps) are available to monitor movement disorders, but an overview of their purpose and stage of development is missing. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - January 1, 2024 Category: Neurology Authors: Ilse H.J. Willemse, Sabine Schootemeijer, Robin van den Bergh, Helen Dawes, Jorik H. Nonnekes, Bart P.C. van de Warrenburg Tags: Review article Source Type: research
Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India
The genetics of dystonia have varied across different ethnicities worldwide. Its significance has become more apparent with the advent of deep brain stimulation. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - December 31, 2023 Category: Neurology Authors: Debjyoti Dhar, Vikram V. Holla, Riyanka Kumari, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal Source Type: research
Spinocerebellar ataxia type 2 has multiple ancestral origins
Spinocerebellar ataxia type 2 (SCA2) is a dominant neurodegenerative disorder due to expansions of a CAG repeat tract (CAGexp) at the ATXN2 gene. Previous studies found only one ancestral haplotype worldwide, with a C allele at rs695871. This homogeneity was unexpected, given the severe anticipations related to SCA2. We aimed to describe informative ancestral haplotypes found in South American SCA2 families. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - December 31, 2023 Category: Neurology Authors: Lucas Schenatto Sena, Gabriel Vasata Furtado, Jos é Luiz Pedroso, Orlando Barsottini, Mario Cornejo-Olivas, Paulo Ribeiro Nóbrega, Pedro Braga Neto, Danyela Martins Bezerra Soares, Fernando Regla Vargas, Clecio Godeiro, Paula Frassinetti Vasconcelos de Source Type: research
The association of CSF biomarkers and cognitive decline with choroid plexus volume in early Parkinson's disease
This study aims to determine the link between choroid plexus (CP) volume and cognitive decline in patients with early-stage Parkinson's disease (PD) and to test whether pathological proteins in the cerebrospinal fluid (CSF) are involved in the modulation of any detrimental effects from CP volume. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - December 31, 2023 Category: Neurology Authors: Peikun He, Yuyuan Gao, Lin Shi, Yanyi Li, Yihui Qiu, Shujun Feng, Zihui Tie, Liangxu Gong, Guixian Ma, Yuhu Zhang, Kun Nie, Lijuan Wang Source Type: research
Late adult-onset Niemann Pick type C (NPC): An “atypical” typical presentation at the age of 62. Expert commentary
In a recently Movement Disorders Rounds, Dr. Mario Sousa and colleagues describe a challenging case of a late onset Niemann Pick Type C (NPC) disease [1]. The patient was a 67-year-old woman that started at the age of 62 with a progressive gait and balance disorder, cognitive impairment and speech affection. Summarizing main findings in neurological examination the patient presented a vertical supra-nuclear gaze palsy (VSGP) in combination with a mild cerebellar ataxia, slight slowness without decreasing of amplitude in finger tapping test, absence of rigidity and a wide based gait. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - December 28, 2023 Category: Neurology Authors: Sergio Rodriguez-Quiroga Source Type: research
Expert commentary for: Late adult-onset Niemann Pick type C (NPC): An “atypical” typical presentation at the age of 62
In a recently Movement Disorders Rounds, Dr. Mario Sousa and colleagues describe a challenging case of a late onset Niemann Pick Type C (NPC) disease [1]. The patient was a 67-year-old woman that started at the age of 62 with a progressive gait and balance disorder, cognitive impairment and speech affection. Summarizing main findings in neurological examination the patient presented a vertical supra-nuclear gaze palsy (VSGP) in combination with a mild cerebellar ataxia, slight slowness without decreasing of amplitude in finger tapping test, absence of rigidity and a wide based gait. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - December 28, 2023 Category: Neurology Authors: S. Rodriguez-Quiroga Source Type: research
Cognitive dysfunction in de novo Parkinson disease: Remitting vs. progressive cognitive impairment
This study aimed to examine the clinical features of patients with different long-term cognitive trajectories in de novo PD over a five-year follow-up. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - December 28, 2023 Category: Neurology Authors: Kazuya Kawabata, Atbin Djamshidian, Epifanio Bagarinao, Daniel Weintraub, Klaus Seppi, Werner Poewe Source Type: research
18F-FP-DTBZ PET/CT detectable associations between monoaminergic depletion in the putamen with rigidity and the pallidus with tremor in Parkinson's disease
In this study, we explore the monoaminergic denervation features of the striatal and extra-striatal areas in patients with different subtypes of PD with 18F-9-fluoropropyl-(+)-dihydrotetrabenazine (18F-FP-DTBZ) PET/CT. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - December 27, 2023 Category: Neurology Authors: An-Qi Huang, Shu-Ying Liu, Olivier Barret, Hong-Wen Qiao, Gilles D. Tamagnan, Xiu-Lin Liu, Cheng-Cheng Fan, Ze Li, Jie Lu, Piu Chan, Er-He Xu Source Type: research
Focal task-specific hand dystonia related to esports in a rhythm gamer: A case report
Herein, we report a novel case of focal task-specific dystonia of the upper extremity that occurred in a 27-year-old man who presented with flexion of the left third, fourth, and fifth fingers exclusively during rhythm gameplay. Dystonia during electronic sports should be recognized as a new type of occupational dystonia. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - December 27, 2023 Category: Neurology Authors: Kentaro Kawama, Jun Ikezawa, Yuji Saitoh, Kazushi Takahashi Tags: Correspondence Source Type: research
Parkinson disease patients' and carepartners ’ perceptions of palliative care
Outpatient palliative care offers an opportunity to improve the quality of life of Parkinson's disease (PD) patients and families. While there are efforts to improve clinicians' palliative care knowledge and skills, there is limited knowledge on patients and carepartners' knowledge and perceptions of palliative care. As part of a larger study on implementing outpatient palliative care, this study aimed to understand patients' and carepartners' knowledge and perceptions of palliative care, and their palliative care needs and preferences prior to the implementation. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - December 27, 2023 Category: Neurology Authors: Sandhya Seshadri, Megan Dini, Jennifer Corcoran, Anna Job, Angela Contento, Sally A. Norton, Jodi Summers Holtrop, Benzi M. Kluger Tags: Short communication Source Type: research
Fluid and tissue biomarkers in Parkinson ’s disease: Immunodetection or seed amplification? Central or peripheral?
Over the last two decades there have been meaningful developments on biomarkers of neurodegenerative diseases, extensively (but not solely) focusing on their proteinopathic nature. Accordingly, in Alzheimer's disease determination of levels of total and phosphorylated tau ( τ and p-τ, usually p-τ181) along with amyloid-beta1-42 (Aβ1-42) by immunodetection in cerebrospinal fluid (CSF) and currently even in peripheral blood, have been widely accepted and introduced to routine diagnosis. In the case of Parkinson's disease, α-synuclein as a potential biomarker (both f or diagnosis and progression tracking) has proved more...
Source: Parkinsonism and Related Disorders - December 27, 2023 Category: Neurology Authors: Celia Painous, Manel Fern ández, Jesica Pérez, Lorena de Mena, Ana Cámara, Yaroslau Compta Tags: Review article Source Type: research
Intrinsic auricular muscle zone stimulation for Parkinson disease: The EARSTIM-PD Phase II multi-center pilot study results
Studies have suggested that intrinsic auricular muscle zones (IAMZ) stimulation alleviates motor features of Parkinson disease (PD). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - December 26, 2023 Category: Neurology Authors: Hubert H. Fernandez, Eric A. Macklin, Robert A. Hauser, Kelvin L. Chou, Yusuf O. Cakmak, Burak Ozsoy, Stanley Fahn, the Parkinson Study Group EARSTIM-PD Investigators Source Type: research
Intrinsic auricular muscle zone stimulation for Parkinson disease EARSTIM-PD Phase II multi-center pilot study results
Studies have suggested that intrinsic auricular muscle zones (IAMZ) stimulation alleviates motor features of Parkinson disease (PD). (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - December 26, 2023 Category: Neurology Authors: Hubert H. Fernandez, Eric A. Macklin, Robert A. Hauser, Kelvin L. Chou, Yusuf O. Cakmak, Burak Ozsoy, Stanley Fahn, the Parkinson Study Group EARSTIM-PD Investigators, Steering Committee, Stanley Fahn, Hubert H. Fernandez, Eric A. Macklin, Robert A. Hause Source Type: research
The history of deep brain stimulation
Deep brain stimulation (DBS) surgery is an established and effective treatment for several movement disorders (tremor, Parkinson's disease, and dystonia), and under investigation in numerous other neurological and psychiatric disorders. However, the origins and development of this neurofunctional technique is not always well understood and recognized. In this mini-review, we review the history of DBS, highlighting the milestones and the most remarkable protagonists (neurosurgeons, neurologists, and neurophysiologists) who pioneered and fostered this therapy throughout the 20th and early 21st century. (Source: Parkinsonism ...
Source: Parkinsonism and Related Disorders - December 25, 2023 Category: Neurology Authors: Francesco Cavallieri, Eoin Mulroy, Elena Moro Tags: Review article Source Type: research
Fragile X premutation mimicking late onset hereditary spastic paraplegia
A 60-year-old man presented with a six-year history of slowly progressive gait impairment and postural instability. Over the last 2 years, he had developed progressive weakness in his lower limbs. Urinary function was normal, and there were no sensory complaints. His parents were non-consanguineous, and his previous medical history was unremarkable. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - December 24, 2023 Category: Neurology Authors: Pedro Henrique Almeida Fraiman, Thiago Yoshinaga Tonholo Silva, Victor Hugo Rocha Marussi, Jo ão Bosco de Oliveira, Orlando G.P. Barsottini, José Luiz Pedroso Source Type: research
