Results 91 to 100 of about 7,923 (198)

Possible Contribution of Multiple Sclerosis Pathology to Treatment‐Resistant Schizophrenia: A Case Study

Neuropsychopharmacology Reports, Volume 46, Issue 3, September 2026.
A case of multiple sclerosis detected by brain MRI during evaluation for modified electroconvulsive therapy in the long‐term course of schizophrenia. This case discusses the clinical overlap between multiple sclerosis pathology and treatment‐resistant schizophrenia. ABSTRACT Multiple sclerosis (MS) can present with neurological and psychiatric symptoms
Sho Miura, Atsuko Nagaoka, Mizuki Hino, Risa Shishido, Masataka Hatano, Yuto Hosogai, Kazusa Miyahara, Yuta Oba, Kimihiko Kaneko, Yasuto Kunii, Hiroaki Tomita   +10 more
wiley   +1 more source

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, Volume 110, Issue 3, Page 369-373, September 2026.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Neck and mind: exploring emotion processing in cervical dystonia

Frontiers in Neuroscience
ObjectiveA wide range of non-motor symptoms such as pain, mood disorders, insomnia, and executive dysfunction may occur in focal dystonia. Little is known, however, about emotional processing.
Federico Carbone, Marina Peball, Philipp Ellmerer, Beatrice Heim, Wolfgang Nachbauer, Elisabetta Indelicato, Matthias Amprosi, Philipp Mahlknecht, Anna Hussl, Anna Hotter, Roberta Granata, Klaus Seppi, Klaus Seppi, Atbin Djamshidian, Sylvia Boesch   +14 more
doaj   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

ADCY5-related dyskinesias: An amalgamation of various hyperkinetic movement disorders

Annals of Movement Disorders
Adenylyl cyclase 5 (ADCY5)-related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination thereof, primarily involving the limbs, face, and neck.
Dinesh Khandelwal, Neha Pemassini, Ashish Pemawat, Vaibhav Mathur   +3 more
doaj   +1 more source

Consensus‐based follow‐up and treatment registry for GNAO1‐associated disorder

Developmental Medicine &Child Neurology, Volume 68, Issue 9, Page 1316-1324, September 2026.
This original article is commented on by Domínguez‐Carral and Ortigoza‐Escobar on pages 1182–1183 of this issue. Abstract Aim To establish consensus‐based recommendations on relevant domains of functioning and assessment instruments for an GNAO1‐associated disorder follow‐up and treatment registry.
Larissa R. Heideman, Nicole I. Wolf, Moritz Thiel, Jolanda H. Schieving, Chris De Kruiff, Suzanne van den Bos, Eva Van Heeringen‐Broekhuizen, J. Jasper Deuring, Annemieke I. Buizer, Laura A. Van De Pol   +9 more
wiley   +1 more source

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1581-1590, August 2026.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee, Jeffrey Lambe, Scott Johnson, Akua Abrah, Jennifer Bullen, Jeffrey A. Cohen, Tatchaporn Ongphichetmetha, Amy Kunchok   +7 more
wiley   +1 more source

Regression, Ataxia, and Nystagmus in a Toddler: Unraveling a Rare Neurodegenerative Disorder

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Infantile neuroaxonal dystrophy (INAD) should be considered in any toddler presenting with psychomotor regression and cerebellar atrophy, even when basal ganglia iron deposition is absent on initial MRI. Molecular genetic testing of PLA2G6 is essential for definitive diagnosis, enabling accurate genetic counseling and timely multidisciplinary ...
K. Venkataramana Reddy, Agasthya Daggu, Sumanth Reddy Mudiyala, Siddartha Reddy Gangapuram, M. Geethika, Lakshya Nehal Samineni   +5 more
wiley   +1 more source

Isolated orofacial dystonia and facial pain as the inaugural manifestation of anti-NMDAR encephalitis: a case report and literature review

Frontiers in Immunology
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis typically presents with psychiatric symptoms, seizures, and cognitive dysfunction. Movement disorders, when present, usually coexist with these features.
Youjia Liu, Sihui Chen, Yanyun Wu, Wenting Zhou, Huifang Shang, Xueping Chen, Ruwei Ou   +6 more
doaj   +1 more source