Results 101 to 110 of about 25,306 (274)

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

Epilepsia Open, EarlyView.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Francesca Madia, Maria Margherita Mancardi, Stefania Fornarino, Luca Bosisio, Zahra Hoseini Tavassol, Mir Davood Omrani, Federico Zara, Marcello Scala   +10 more
wiley   +1 more source

Serious Illness Conversation in the Care of Atypical Parkinsonian Disorders: A Practical Guide for Neurology Clinicians

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Compared to Parkinson's disease, atypical parkinsonian disorders (APD) are characterized by a more rapidly progressive course, often leading to profound disability. Effective communication between clinicians, patients, and care partners is essential to support patient‐centered care and shared decision‐making.
Michiko K. Bruno, Jocelyn Jiao, Neha M. Kramer, Margaret Ivancic, Claudia Chou, Jessica Shurer, Thomas Carroll, on behalf of CurePSP Centers of Care Palliative Care Working Group   +7 more
wiley   +1 more source

Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease [PDF]

, 2010
Objective To report the rare but distinct clinical and neuropathological phenotype of non-familial, rapidly progressive parkinsonism and dementia associated with frontotemporal lobar degeneration with motor neuron disease (FTLD-MND).
de Courten-Myers, Gabrielle M., Espay, Alberto J., Ghetti, Bernardino, Houghton, David J., Litvan, Irene, Murrell, Jill R., Spina, Salvatore   +6 more
core   +1 more source

Vestibular Dysfunction in Parkinson's Disease: A Systematic Review of Signs and Symptoms

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Despite the growing interest in the link between Parkinson's disease (PD) neuropathology and vestibular system, there is still a lack of consensus about the presence of vestibular dysfunctions in PD. Objective This review aims to identify vestibular signs and symptoms reported in PD patients and to summarize and critically appraise ...
Francisco Rosado‐Martins, Beatriz Santos, Cláudia M. Costa, Tiago Eça, Raquel Bouça‐Machado, Joaquim J. Ferreira   +5 more
wiley   +1 more source

Neurotoxicity [PDF]

, 2014
Neurotoxicity refers to the direct or indirect effect of chemicals that disrupt the nervous system of humans or animals. Numerous chemicals can produce neurotoxic diseases in humans, and many more are used as experimental tools to disturb or damage the ...
Brust, Creeley, Feldman, Grandjean, Herken, Panzica, Parent, Pessah, Rice, Román, Spencer, Spencer, Tu, Vinken, Yasui, Zawia   +15 more
core   +2 more sources

Olfaction in Parkin single and compound heterozygotes in a cohort of young onset Parkinson's disease patients [PDF]

, 2016
Background Parkin related Parkinson's disease (PD) is differentiated from idiopathic PD by absent or sparse Lewy bodies, and preserved olfaction. The significance of single Parkin mutations in the pathogenesis of PD is debated.
Bajaj, N. P., Barker, R. A., Ben-Shlomo, Y., Bresner, Catherine, Burn, D. J., Foltynie, T., Grosset, D. G., Grosset, K. A., Lawton, M. A., Malek, N., Morris, H. R., Smith, C. R., Swallow, D. M. A., Williams, Nigel, Wood, N. W.   +14 more
core   +2 more sources

Is Dysphagia in Multiple System Atrophy Responsive to Levodopa? Results from a Retrospective Study

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dysphagia remains a major clinical concern in multiple system atrophy (MSA), and so far, lacks relevant treatment options. Objective To systematically assess levodopa‐responsiveness of dysphagia in MSA. Methods 19 MSA‐patients underwent endoscopic swallowing evaluation in Off‐ and On‐state, following an adapted FEES‐levodopa‐test ...
Florin Gandor, Luise Berger, Vera Jäger, Katharina Demmin, Doreen Gruber, Katja Schimming, Paulina Thimm, Georg Ebersbach, Stefanie Schreiber, Dominic Rowe, Annemarie Vogel   +10 more
wiley   +1 more source

Diagnoses behind patients with hard-to-classify tremor and normal DaT-SPECT: a clinical follow up study [PDF]

, 2014
The [(123)I]ioflupane—a dopamine transporter radioligand—SPECT (DaT-SPECT) has proven to be useful in the differential diagnosis of tremor. Here, we investigate the diagnoses behind patients with hard-to-classify tremor and normal DaT-SPECT.
Arias Carrión, Óscar, Menéndez González, Manuel, Salas Pacheco, José M., Tavares Sánchez, Francisco José, Zeidan, Nahla   +4 more
core   +1 more source

Nonmotor Features in Atypical Parkinsonism

, 2017
Atypical parkinsonism (AP) comprises mainly multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD), which are distinct pathological entities, presenting with a wide phenotypic spectrum. The classic syndromes are now called MSA-parkinsonism (MSA-P), MSA-cerebellar type (MSA-C), Richardson's syndrome, and
Bhatia, Kailash P., Stamelou, Maria
openaire   +4 more sources

High Cerebrospinal DOPA Decarboxylase Level Predicts Cognitive Decline in Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background DOPA decarboxylase (DDC) in cerebrospinal fluid (CSF) is an emerging Parkinson's disease (PD) biomarker, but its association with nonmotor symptoms is unclear. Objectives We aimed to determine if baseline DDC was associated with future cognitive decline in PD.
Andrea Sturchio, Wojciech Paslawski, Shervin Khosousi, Ioanna Markaki, Michael A. Nalls, Andrew B. Singleton, Hirotaka Iwaki, Per Svenningsson   +7 more
wiley   +1 more source