Results 31 to 40 of about 49,154 (213)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Deficits in the activation of human oculomotor nuclei in chronic traumatic brain injury

Frontiers in Neurology, 2015
Binocular eye movements form a finely-tuned system that requires accurate coordination of the oculomotor dynamics of the brainstem control nuclei when tracking the fine binocular disparities required for 3D vision.
Christopher W Tyler, Lora T Likova, Spero C Nicholas, kristyo N Mineff   +3 more
doaj   +1 more source

Evolution of eye movement abnormalities in Huntington’s disease

Annals of Movement Disorders, 2022
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder. Eye movement abnormalities are characteristic manifestations of HD. The clinical manifestations and eye movement disturbances progress with the natural course of illness.
Khushboo Patel, Nitish Kamble, Vikram V Holla, Pramod K Pal, Ravi Yadav   +4 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Altered GABAergic signaling and chloride homeostasis in eye movement circuits during late neurodevelopment: implications for Alzheimer’s disease therapy

Frontiers in Pharmacology
Eye movement deficits, including abnormal saccades and impaired smooth pursuits, are among the earliest observable indicators of neurodegenerative diseases, particularly Alzheimer’s disease (AD).
Christophe Porcher, Claudio Rivera, Claudio Rivera, Igor Medina, Lejla Koric, Lejla Koric   +5 more
doaj   +1 more source

The Limitations of Reward Effects on Saccade Latencies: An Exploration of Task-Specificity and Strength

Vision, 2019
Saccadic eye movements are simple, visually guided actions. Operant conditioning of specific saccade directions can reduce the latency of eye movements in the conditioned direction. However, it is not clear to what extent this learning transfers from the
Stephen Dunne, Amanda Ellison, Daniel T. Smith   +2 more
doaj   +1 more source

Isolated Oculomotor Cranial Nerve Palsy as Unusual Presentation of Primary High-Grade Burkitt’s Cell Lymphoma in HIV Patient: Case Report and Literature Review

Case Reports in Oncology, 2021
Burkitt lymphoma (BL) is a highly aggressive B-cell neoplasm that is well known to be associated with HIV. The presentation usually reflects the underline immunodeficiency state (like opportunistic infections and chronic diarrhea, and enlarged lymph ...
Elabbass A. Abdelmahmuod, Mohammed Abdulgayoom, Mohammed Elhadi, Hiba Magboul, Mouhammad Z. Sharaf Eldean, Sali Alatasi   +5 more
doaj   +1 more source

Global Rather Than Vertical‐Selective Saccadic Abnormalities in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To test whether vertical saccades are preferentially affected in Progressive Supranuclear Palsy (PSP). Methods PSP patients (n = 24) were compared to age‐matched controls (n = 94) and two degenerative groups (Alzheimer's disease, n = 20; Lewy body disease, n = 50).
Duy Duan Nguyen, Mark Paine, Soohyun Lee, Amir Fazlollahi, Baibin (Ben) Wang, John D. O'Sullivan, Peter J. Nestor   +6 more
wiley   +1 more source

Parkinsonism: heterogeneity of a common neurological syndrome

Swiss Medical Weekly, 2011
Parkinsonism refers to a neurological syndrome embracing bradykinesia, muscle rigidity, tremor at rest and impaired postural reflexes, and involving a broad differential diagnosis.
G Kaegi
doaj   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source