Results 111 to 120 of about 107,412 (210)

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

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Persistent Bilateral [18F]THK5351 and Migrating Unilateral [18F]FDG Uptake in Anti‐LGI1 Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Anti–leucine‐rich glioma‐inactivated 1 encephalitis (LGI1‐E) can cause persistent cognitive deficits, but the mechanisms remain unclear. A 40‐year‐old woman with LGI1‐E presented with subacute cognitive deficits and showed mild left medial temporal lobe (MTL) swelling and fluid‐attenuated inversion recovery (FLAIR) hyperintensity on initial ...
Yusuke Akitomi, Kenichiro Taira, Masanori Kurihara, Kenji Ishibashi, Kenji Ishii, Fumio Suzuki, Aya Midori Tokumaru, Makoto Hara, Atsushi Iwata   +8 more
wiley   +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

A Scoping Review and Content Analysis of Available Chronic Pain Education Programs and Resources for Children, Adolescents and Young Adults with Diverse Abilities. [PDF]

J Pain Res
Smith MG, Schaly S, Berryman C, Khillan A, Ostojic K, Harvey A.   +5 more
europepmc   +1 more source

The Tale of the Residual Tail: Insights From Continuous Intracranial Monitoring From Post‐Hippocampectomy Dynamics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Subtotal hippocampal resection can leave residual hippocampal tissue, yet the immediate postoperative electrophysiologic evolution of such remnants is unknown. We describe a patient with drug‐resistant temporal lobe epilepsy in whom a hippocampal remnant was continuously monitored using a responsive neurostimulator (RNS) following subtotal ...
Patrick Hartnett, Syeda Amrah Hashmi, Amaan Qureshi, Heather Spader, Shayan Moosa, Ifrah Zawar   +5 more
wiley   +1 more source

Anti‐CD19 CAR T Cells in Autoimmune Encephalitis: Inflammation Controlled, Neurodegeneration Unchecked?

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Just recently, successful chimeric antigen receptor (CAR) T cell therapy was reported in the first patient with refractory, anti‐diacylglycerol lipase alpha (DAGLA) antibody‐mediated autoimmune encephalitis, achieving partial clinical remission.
Dimitrios Mougiakakos, Marwa Al‐Dubai, Denise Walther, Dominic Borie, Jan D. Lünemann, Marc Pawlitzki, Sven G. Meuth, Solveig Henneicke, Stefan Vielhaber, Stefanie Schreiber   +9 more
wiley   +1 more source

CAR T‐Cell Therapy in Neurology: A Scoping Review of Neuro‐Oncology, Autoimmune Diseases & Neurotoxicity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Chimeric antigen receptor (CAR) T‐cell therapy has been investigated in neurological diseases, encompassing both central nervous system malignancies and autoimmune disorders, thereby extending its application beyond hematological cancers.
Omar Alqaisi, Mohammed Dibas, Patricia Tai, Ala Dibas, Osama Souied, Suhair Al‐Ghabeesh   +5 more
wiley   +1 more source

Exploration of experience and sustained engagement with a web-based cognitive rehabilitation intervention amongst patients with aggressive lymphoma: a qualitative sub-study. [PDF]

Support Care Cancer
Gates P, Carlon-Garbutt S, Dhillon HM, Green HJ, Gough K, Dickinson M, Dryden T, Guarnera J, Caeyenberghs K.   +8 more
europepmc   +1 more source

Problematic Internet Use in Frontotemporal Dementia: A Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The present study investigated problematic internet use (PIU) among 61 patients with frontotemporal dementia (FTD) compared to a cohort of 354 patients with mild cognitive impairment (MCI) and Alzheimer's dementia. PIU was identified in 22.9% of FTD patients compared to only 0.8% of AD patients (p < 0.001). Behaviors included compulsive social
Daniele Urso, Giuseppe Volpe, Agnese Valguarnera, Davide Vilella, Alessandra Vitulli, Valentina Gnoni, Alessia Giugno, Eleonora Rollo, Mark D. Griffiths, Giancarlo Logroscino   +9 more
wiley   +1 more source