Results 171 to 180 of about 830,352 (306)

Minimally Clinically Important Difference of the Clinical Assessment Scale in Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The Clinical Assessment Scale in Autoimmune Encephalitis (CASE) tracks disease severity in autoimmune encephalitis (AE), but no threshold for significant change exists. We aimed to determine the minimally clinically important difference (MCID) for CASE.
Yihui Goh, Yoon Hee Shin, Soo Hyun Ahn, Su Yee Mon, Soo Jean Shin, Woo‐Jin Lee, Yoonhyuk Jang, Myoung‐Jin Jang, Soon‐Tae Lee   +8 more
wiley   +1 more source

Motor and non-motor symptoms in cervical dystonia

, 2017
In this thesis, we detected a high frequency of non motor symptoms (NMS) in patients with cervical dystonia (CD) , with a high impact on quality of life (HR-QoL). Psychiatric co-morbidity and fatigue are most likely primary symptoms and part of the phenotype of CD, while excessive daytime sleepiness and impaired sleep quality were highly related to ...
openaire   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Gender differences in non-motor symptoms in Parkinson's disease: a multicenter longitudinal study. [PDF]

Neurol Sci
Cuoco S, Russo M, Picillo M, Ricciardi C, Russillo MC, Amboni M, Arabia G, Avanzino L, Canesi M, Catania A, Ceravolo R, Cicero CE, Cilia R, Colangelo I, Dati G, De Micco R, De Rosa A, Di Fonzo A, Eleopra R, Fetoni V, Garavaglia B, Giglio A, Giuntini M, Invernizzi F, Lazzeri G, Marchese R, Nicoletti A, Pacchetti C, Panteghini C, Pilleri M, Radicati FG, Reale C, Scaglione C, Soricelli A, Stocchi F, Tessitore A, Vacca L, Volontè MA, Volpi G, Zangaglia R, Amato F, Barone P, Pellecchia MT, SIN Gender Neurology Study Group.   +43 more
europepmc   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Tilting the balance toward motor symptoms: Determinants of caregiver burden in late-stage Parkinson's disease. [PDF]

IBRO Neurosci Rep
Culicetto L, Triolo G, Lombardo R, Ivaldi D, Bonanno L, Giambò FM, Di Lorenzo G, Sorbera C, Quartarone A, Marino S, Buono VL.   +10 more
europepmc   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Expert perspectives on the use of safinamide for Parkinson’s disease in Portugal: insights from a Portuguese Delphi Consensus

Journal of Comparative Effectiveness Research
Aim: Safinamide is an approved medication for managing motor fluctuations in Parkinson’s disease (PD). However, limited data exist regarding its application in clinical practice in Portugal and the perspectives of Portuguese neurologists on its use. To
Ana Margarida Rodrigues, Cristina Costa, Miguel Gago, Miguel Grunho, Leonor Correia Guedes, Ana Morgadinho, Maria Jose Rosas, Rita Simoes, Ana Graca Velon   +8 more
doaj   +1 more source