Results 61 to 70 of about 5,681 (206)

Impairment of Proteasome and Autophagy Underlying the Pathogenesis of Leukodystrophy

Cells, 2020
Impairment of the ubiquitin-proteasome-system (UPS) and autophagy causing cytoplasmic aggregation of ubiquitin andp62 have been implicated in the pathogenesis of most neurodegenerative disorders, yet, they have not been fully elucidated in ...
Dar-Shong Lin, Che-Sheng Ho, Yu-Wen Huang, Tsu-Yen Wu, Tsung-Han Lee, Zo-Darr Huang, Tuan-Jen Wang, Shun-Jie Yang, Ming-Fu Chiang   +8 more
doaj   +1 more source

Disease‐specific body composition patterns in children with cerebral palsy and spinal muscular atrophy

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Spinal muscular atrophy (SMA) and cerebral palsy (CP) are severe neurological conditions characterized by neurodegeneration and non‐progressive brain injury, respectively, both profoundly affecting the nutritional status in children.
Giulia Fiore, Sara Vizzuso, Ramona De Amicis, Barbara Borsani, Mireia Escudero‐Marín, Alessandra Mari, Francesca Destro, Hatim Azaryah, Chiara Mastella, Anna Mandelli, Laura Stabilini, Alessandra Bosetti, Francesca Izzo, Elena Zoia, Eleonora Bonaventura, Lorenzo Norsa, Davide Tonduti, Gloria Pelizzo, Cristina Campoy, Simona Bertoli, Gianvincenzo Zuccotti, Elvira Verduci   +21 more
wiley   +1 more source

Normal cholestanol in a genetically confirmed cerebrotendious xanthomatosis case presenting as neonatal jaundice

JPGN Reports, EarlyView.
Abstract Cerebrotendinous xanthomatosis (CTX) is a treatable genetic disorder associated with deficiency of the sterol 27‐hydroxylase enzyme (CYP27A1), important in bile acid synthesis. CTX may present in the newborn period as hepatic jaundice/cholestasis, that can resolve or can progress to fatal liver disease.
Andrea E. DeBarber, Maya Fowler, P. Barton Duell, Eric Dybbro   +3 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India

Annals of Indian Academy of Neurology, 2016
Objective: The objective of this study is to retrospectively collect and then describe the clinico-radiographical profile of confirmed cases of leukodystrophy who presented over a 5-year period to a tertiary care teaching hospital in North India ...
Sheffali Gulati, Puneet Jain, Biswaroop Chakrabarty, Atin Kumar, Neerja Gupta, Madhulika Kabra   +5 more
doaj   +1 more source

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

Ethical management in the constitution of a European database for leukodystrophies rare diseases. [PDF]

, 2014
International audienceBACKGROUND: The EU LeukoTreat program aims to connect, enlarge and improve existing national databases for leukodystrophies (LDs) and other genetic diseases affecting the white matter of the brain.
Boespflug-Tanguy, Odile, Darquy, Sylviane, Moutel, Grégoire, Duchange, Nathalie, d'Audiffret, Diane, Callies, Ingrid, Lapointe, Anne-Sophie, Loeve, Boris   +7 more
core   +1 more source

Microbiota gut-brain axis: implications for pediatric-onset leukodystrophies

Frontiers in Nutrition
Neurodegenerative disorders are a group of diseases characterized by progressive degeneration of the nervous system, leading to a gradual loss of previously acquired motor, sensory and/or cognitive functions.
Ylenia Vaia, Ylenia Vaia, Fabio Bruschi, Fabio Bruschi, Veronica Maria Tagi, Veronica Maria Tagi, Martina Tosi, Martina Tosi, Chiara Montanari, Chiara Montanari, Gianvincenzo Zuccotti, Gianvincenzo Zuccotti, Davide Tonduti, Davide Tonduti, Elvira Verduci, Elvira Verduci   +15 more
doaj   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source