Results 91 to 100 of about 55,413 (307)

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Fibronectin1‐Expressing Subicular Circuits Selectively Govern the Retrieval of Novel Object Recognition

Advanced Science, EarlyView.
Fibronectin 1 (FN1)‐expressing subicular subpopulations encode novel object preference and selectively govern retrieval of novel object recognition (NOR) via affecting excitability of entorhinal‐projecting circuit through large conductance Ca2+‐activated potassium (BK) channel. ABSTRACT Novel object recognition (NOR), referring to the cognitive ability
Fan Fei, Jiaying Shi, Jing Xi, Yixiang Xu, Shuye Ying, Xukun Fan, Wangjialu Lu, Zhisheng Li, Menghan Li, Yu Wang, Li Cheng, Lin Yang, Lingyu Xu, Zhong Chen, Cenglin Xu, Yi Wang   +15 more
wiley   +1 more source

Investigating ITM2B‐associated ataxia in a Taiwanese cerebellar ataxia cohort

Annals of Clinical and Translational Neurology
Objective The genetic causes of a significant number of patients with cerebellar ataxia remain unsolved. Variations in the ITM2B gene, typically linked to dominantly inherited dementia, can sometimes present with cerebellar ataxia as an early symptom ...
Shih‐Yu Fang, Cheng‐Tsung Hsiao, Kang‐Yang Jih, Yu‐Sheun Tsai, Kuan‐Lin Lai, Cheng‐Ta Chou, Yi‐Chu Liao, Yi‐Chung Lee   +7 more
doaj   +1 more source

Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies

Arquivos de Neuro-Psiquiatria
The enzyme glutamic acid decarboxylase (GAD), present in GABAergic neurons and in pancreatic beta cells, catalyzes the conversion of gamma-aminobutyric acid (GABA).
Tiago Silva Aguiar, Andrea Fragoso, Carolina Rouanet de Albuquerque, Patrícia de Fátima Teixeira, Marcus Vinícius Leitão de Souza, Lenita Zajdenverg, Soniza Vieira Alves-Leon, Melanie Rodacki, Marco Antônio Sales Dantas de Lima   +8 more
doaj   +1 more source

Genetic screening for SACS, ABHD12 and PRICKLE1 mutations in ataxia patients from Southern Italy

, 2011
Genetic screening for SACS, ABHD12 and PRICKLE1 mutations in ataxia patients from Southern Italy. INTRODUCTION Autosomal recessive (AR) spinocerebellar ataxias constitute a heterogeneous group of neurodegenerative disorders mainly characterized by ...
De Leva, Maria Fulvia
core  

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

Advanced Science, EarlyView.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak, David Okoh, William Scotton, Shanika Samarasekera, Vikram Patil, Suresh Renukappa, Andrew Macduff, Subashini Suresh, Rajeev Krishnadas, Tonny Veenith   +9 more
wiley   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families

Clinics, 2012
OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene.
Hélio A. G. Teive, Renato P. Munhoz, Walter O. Arruda, Iscia Lopes-Cendes, Salmo Raskin, Lineu C. Werneck, Tetsuo Ashizawa   +6 more
doaj   +1 more source

Mechanisms and consequences of reduced dendritic growth of cerebellar Purkinje cells [PDF]

, 2012
The cerebellum is a brain region crucial for coordination and motor learning. Being the principal output cell of the cerebellar cortex, Purkinje cell loss and degeneration play an important role in many cerebellar diseases.
Gugger, Olivia S.
core   +1 more source

Noninvasive Focal Gene Delivery into the Cerebellum of Non‐Human Primates using Focused Ultrasound

Advanced Science, EarlyView.
Focal and non‐invasive viral vector delivery in non‐human primates remains a major challenge in translational neuroscience. Low‐intensity focused ultrasound was used to transiently open the blood–brain barrier and enable targeted gene delivery to the cerebellum.
Noelia Esteban‐García, José A. Pineda‐Pardo, Inés Trigo‐Damas, Marta Gutiérrez, Marta Castillo‐Ortiz, Megan Carrillo, Alejandro Reinares‐Sebastian, Víctor Medina‐Chavarrías, Itay Rachmilevitch, Masahiko Takada, José A. Obeso, Javier Blesa   +11 more
wiley   +1 more source