Results 1 to 10 of about 1,452,519 (228)

European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy

Journal of Internal Medicine, EarlyView.
Abstract Lipodystrophy comprises a heterogeneous group of disorders characterized by reduced adipose tissue often associated with severe metabolic complications. Lipodystrophy may be genetic, acquired, or secondary to medical therapies initiated for other conditions.
Robert K. Semple, Martin Wabitsch, Baris Akinci, Saif Alyaarubi, Marjoleine F. Broekema, Rebecca J. Brown, Giovanni Ceccarini, Carolina Cecchetti, Solaf M. Elsayed, Antía Fernández‐Pombo, Alessandra Gambineri, Ingrid M. Jazet, Lotte Kleinendorst, Konstanze Miehle, Elif A. Oral, Flavia Prodam, Ferruccio Santini, David B. Savage, Nadia Shaukat Ali, Ekaterina Sorkina, Magdalena Szopa, Marie‐Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Julia von Schnurbein, David Araújo‐Vilar   +25 more
wiley   +1 more source

Activation of AMPK/OPA1 pathway alleviates traumatic brain damage by regulating mitophagy

Acta Cirúrgica Brasileira
Purpose: Mitophagy is an important process in brain damage, and the precise impact on a traumatic brain injury (TBI) model remains unclear. AMP-activated protein kinase (AMPK) regulates mitochondrial homeostasis and mitophagy, which are closely related ...
Hao Wei, Jiushan Liao, Wei Gao, Xiangzhong He   +3 more
doaj   +1 more source

Decoding neuronal vulnerability: Multidimensional analysis of D1R‐ and D2R‐ medium‐sized spiny neurons in Huntington's disease

Brain Pathology, Volume 36, Issue 6, November 2026.
D1R and D2R MSNs show distinct responses to Huntington's pathology. G&T‐sequencing of pre‐symptomatic MSNs reveals global LINE‐1 downregulation. While D1R‐MSNs display early transcriptomic changes (OXPHOS/translation upregulation) and reduced mutant huntingtin aggregation, D2R‐MSNs exhibit higher nuclear mHTT accumulation and greater CAG somatic ...
Guendalina Bergonzoni, Miguel Pellegrini, Aurora Savino, Martina Lazioli, Sarah Geurs, Lorenzo Graziani, Denise Ferrarini, Solaleh Khoramian Tusi, Esaria Oliver, Jarne Geurts, Sara Vinciguerra, Michele Tebaldi, Takshashila Tripathi, Isabella Pesce, Valeria Poli, Alessandro Romanel, Rosario Moratalla, Thierry Voet, Jasmin Morandell, Remo Sanges, Vanessa C. Wheeler, Erik Dassi, Marta Biagioli   +22 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2002-2016, October 2026.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants

Stem Cell Research
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder caused by mutations or deletions in NR2F1, leading to intellectual disability, developmental delay, visual impairments, epilepsy, hypotonia ...
Michele Bertacchi, Romain Desprat, Gaetan Lesca, Chloé Quelin, Marjolaine Willems, Catherine Vincent-Delorme, Laurence Faivre, Christian Jorgensen, Michèle Studer   +8 more
doaj   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2166-2171, October 2026.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Targeting DRP1 with Mdivi-1 to correct mitochondrial abnormalities in ADOA+ syndrome

JCI Insight
Autosomal dominant optic atrophy plus (ADOA+) is characterized by primary optic nerve atrophy accompanied by a spectrum of degenerative neurological symptoms.
Yan Lin, Dongdong Wang, Busu Li, Jiayin Wang, Ling Xu, Xiaohan Sun, Kunqian Ji, Chuanzhu Yan, Fuchen Liu, Yuying Zhao   +9 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

A Rare Case of Fatty Acid Hydroxylase‐Associated Neurodegeneration in a Pakistani Boy With a Homozygous FA2H Variant

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Fatty acid hydroxylase‐associated neurodegeneration (FAHN) is an ultra‐rare neurological disorder caused by a mutation in the FA2H gene. Defective production of this gene leads to abnormal myelin formation, which subsequently causes neurodegeneration and brain iron accumulation.
Araj Naveed Siddiqui, Yamna Naveed Siddiqui, Noor ul Huda Abbasi, Raman Kumar, Hermann Yokolo   +4 more
wiley   +1 more source

Progressive Cognitive Decline and Pyramidal Signs in a Patient With a Novel Homozygous c.395A>T; p.Lys132Met Mutation in CHCHD2

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Biallelic CHCHD2 variants are rare. We report a consanguineous man with a novel homozygous CHCHD2 c.395A>T (p.Lys132Met) variant who developed progressive cognitive decline, apraxia, oculomotor impairment, and pyramidal signs without parkinsonism.
Mehri Salari, Arash Soltani, Masoud Etemadifar, Kamran Rezaei   +3 more
wiley   +1 more source