Results 71 to 80 of about 5,960 (193)

Severe Abdominal Pain as a Prominent Clinical Manifestation of Anti‐DPPX Autoimmune Encephalitis: A Case Report and Systematic Review

Immunity, Inflammation and Disease, Volume 14, Issue 6, June 2026.
ABSTRACT Background Anti‐dipeptidyl‐peptidase‐like protein 6 encephalitis (DPPXE) is an exceptionally rare form of autoimmune encephalitis characterized by a highly heterogeneous clinical phenotype. Methods In this study, we report a Chinese patient presenting with severe abdominal pain as a prominent symptom; furthermore, we conducted a systematic ...
Difang Shi, Haohao Wu, Baogang Huang, Yan Zheng, Jia Liu, Jianjian Bao, Fengming Xu, Kang Du   +7 more
wiley   +1 more source

GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant

Neurobiology of Disease, 2017
Progressive myoclonus epilepsies (PMEs) are disorders characterized by myoclonic and generalized seizures with progressive neurological deterioration. While several genetic causes for PMEs have been identified, the underlying causes remain unknown for a ...
Michelle M. Giddens, Jennifer C. Wong, Jason P. Schroeder, Emily G. Farrow, Brilee M. Smith, Sharon Owino, Sarah E. Soden, Rebecca C. Meyer, Carol Saunders, J.B. LePichon, David Weinshenker, Andrew Escayg, Randy A. Hall   +12 more
doaj   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, Volume 13, Issue 6, Page 1399-1417, June 2026.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Late infantile neuronal ceroid lipofuscinosis: A case report with review of literature

Annals of Indian Academy of Neurology, 2013
Neuronal ceroid lipofuscinosis (NCL) are a group of genetically mediated neurodegenerative disorders affecting children and young adults. They are characterized by global mental and motor deterioration, vision loss, and epilepsy ultimately resulting in ...
Rajesh Verma, Tushar Premraj Raut, Navin Tiwari, Kiran Preet Malhotra, Nuzhat Hussain, Hardeep Singh Malhotra   +5 more
doaj   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, Volume 13, Issue 6, Page 1383-1398, June 2026.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Lafora Disease and Congenital Generalized Lipodystrophy: A Case Report

Kaohsiung Journal of Medical Sciences, 2009
We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood.
Chih-Fan Tseng, Che-Sheng Ho, Nan-Chang Chiu, Shuan-Pei Lin, Chi-Yuan Tzen, Yu-Hung Wu   +5 more
doaj   +1 more source

An Open‐Label Phase 1b Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Clinical Activity of ANX005 in Patients with Huntington's Disease

Movement Disorders, Volume 41, Issue 6, Page 1492-1501, June 2026.
Complement activation is implicated in Huntington's disease; ANX005 is a potent inhibitor of component C1q. ANX005 exhibited a generally manageable safety profile with rapid reduction in C1q in the cerebrospinal fluid. Functional ability on composite Unified Huntington's Disease Rating Scale and total functional capacity was maintained, with potential ...
Rajeev Kumar, Pinky Agarwal, Karen Anderson, Daniel Claassen, Marissa Dean, Andrew Duker, Burton Scott, Benjamin Hoehn, Ann Mongan, Ping Lin, Ellen Cahir‐McFarland, Lori Taylor, Glenn Morrison, Ted Yednock, Sanjay Keswani, Henk‐Andre Kroon   +15 more
wiley   +1 more source

When the Scale Drops: Pathways to Weight Loss in Parkinson's Disease and Future Directions

Movement Disorders, Volume 41, Issue 6, Page 1337-1348, June 2026.
Abstract Although Parkinson's disease (PD) is classically defined by its motor features, non‐motor symptoms exert a substantial and often under‐recognized influence on disease trajectory. Among these, weight loss has long been observed in PD and other neurodegenerative disorders, yet the mechanisms remain incompletely understood.
Ellie D. Gabriel, Robert S. Eisinger, Joyce M. Lee, Sarah Hamimi, Hope Kim, Susanna D. Howard, Casey H. Halpern   +6 more
wiley   +1 more source

EPILEPSY IN INBORN ERRORS OF METABOLISM

Эпилепсия и пароксизмальные состояния, 2016
Epilepsy is a frequent and sometimes leading symptom in inborn errors of metabolism, especially in neonatal or infantile ones. Early myoclonic encephalopathy and myoclonus as a seizure type are the prototypes of epilepsy in inherited metabolic diseases ...
E. D. Belousova
doaj   +1 more source

Long‐Term Outcomes of Deep Brain Stimulation in Woodhouse–Sakati Syndrome

Movement Disorders, Volume 41, Issue 6, Page 1427-1433, June 2026.
Abstract Background Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disease with distinctive neuroendocrine manifestations, with dystonia being the most common. No clear guidelines are available for the treatment of dystonia in WSS. Objective The aim was to analyze the impact of deep brain stimulation (DBS) on WSS‐associated dystonia ...
Hend Alhodaif, Yara Alkhodair, Faisal Alotaibi, Salma Alqahtani, Saeed Bohlega, Amaal Aldakheel   +5 more
wiley   +1 more source