Results 11 to 20 of about 1,365 (178)

A Flupirtine Benzyl Carbamate Improves Neurocognitive Deficits and Molecular Pathology in the Cln6^nclf Mouse [PDF]

Cells
Neuronal ceroid lipofuscinosis type 6 (CLN6) is a fatal, autosomal recessive neurodegenerative disorder characterized by cognitive/motor impairment, vision loss, as well as neuronal loss and gliosis in the brain, and premature death.
Victoria Chaoul, Omar Shmoury, Ramy Alam, Sara Saab, Joelle Makoukji, Lynn Al Aridi, Nadine J. Makhoul, Jihane Soueid, Angelica V. Carmona, Princess Simeon, Paul C. Trippier, Rose-Mary Boustany   +11 more
doaj   +2 more sources

Generierung monoklonaler Antikörper gegen das Protein CLN6 [PDF]

, 2017
Neuronale Ceroid Lipofuszinosen NCL/CLN sind neurodegenerative Erberkrankungen im Kindes- und Jugendalter, welche durch Mutationen in CLN-Proteinen ausgelöst werden. Die Funktionen der meisten CLN-Proteine sind unbekannt. Das ER- Membranprotein CLN6- ist
Cramer, Thomas
core   +3 more sources

Brainstem Disconnection Syndrome in a Patient With Respiratory Failure and Failed Weaning From Oxygen: A Case Report. [PDF]

Case Rep Radiol
Background Brainstem disconnection syndrome (BDS) is an exceedingly rare congenital malformation of the hindbrain characterized by disconnection of the brainstem, often presenting with severe neurological deficits and early neonatal mortality. Whereas previous cases have documented isolated neurological anomalies, this report delineates a distinctive ...
Alshehri A, Ashi M, Sulaiman S, Alzahrani A.   +3 more
europepmc   +2 more sources

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8. [PDF]

Brain Pathol
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Lindgren U, Hedberg-Oldfors C, Visuttijai K, Nordström S, Goebel H, Oldfors A.   +5 more
europepmc   +2 more sources

Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology [PDF]

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2006
The CLN6 vLINCL is caused by molecular defects in CLN6 gene coding for an ER resident transmembrane protein whose function is unknown. In the present study gene expression profiling of CLN6-deficient fibroblasts using cDNA microarray was undertaken in ...
Mangas, M., Ferreira, C., Boustany, R-M.N., Lin, S., Ribeiro, M.G., Teixeira, C.A.F., Sá Miranda, M.C., Quinta, R., Bessa, C.J.P.   +8 more
core   +3 more sources

Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses. [PDF]

Dev Med Child Neurol
This original article is commented on by Mole on pages 156–157 of this issue. Abstract Aim To address disease progression in a cohort of patients with childhood‐onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia. Method In this retrospective study, selected clinical features (age at onset, at death,
Simonati A, Pezzini F, Nardocci N, CLNet Consortium, Santorelli FM.   +4 more
europepmc   +2 more sources

The Case for Master Protocols for Rare Neurological Diseases. [PDF]

Ann Neurol
Master protocol trials allow for simultaneous multiple hypothesis testing within a common framework and might be applicable for rare diseases. In May 2025, the Network for Excellence in Neuroscience Clinical Trials convened a multistakeholder conference to discuss master protocol trials in rare neurological disorders.
Vermilion J, Paganoni S, Plotkin SR, Quintana M, Calvert SB, Whiteman IT, Wang RY, Moore N, Augustine EF.   +8 more
europepmc   +2 more sources

Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis. [PDF]

PLoS ONE, 2013
Mutations in the CLN6 gene cause a variant late infantile form of neuronal ceroid lipofuscinosis (NCL; Batten disease). CLN6 loss leads to disease clinically characterized by vision impairment, motor and cognitive dysfunction, and seizures.
Katja M Kanninen, Alexandra Grubman, Jodi Meyerowitz, Clare Duncan, Jiang-Li Tan, Sarah J Parker, Peter J Crouch, Brett M Paterson, James L Hickey, Paul S Donnelly, Irene Volitakis, Imke Tammen, David N Palmer, Anthony R White   +13 more
doaj   +3 more sources

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder [PDF]

Brazilian Journal of Psychiatry, 2023
Objective: Bipolar disorder is a heritable chronic mental disorder that causes psychosocial impairment through depressive/manic episodes. Familial transmission of bipolar disorder does not follow simple Mendelian patterns of inheritance. The aim of this
Flavia Privitera, Maria A. Trusso, Floriana Valentino, Gabriella Doddato, Chiara Fallerini, Giulia Brunelli, Romina D’Aurizio, Simone Furini, Arianna Goracci, Andrea Fagiolini, Francesca Mari, Alessandra Renieri, Francesca Ariani   +12 more
doaj   +2 more sources

Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report [PDF]

Clinical Parkinsonism & Related Disorders
Neuronal ceroid lipofuscinosis is a rare lysosomal storage disorder that is difficult to distinguish from other diseases with similar clinical symptoms in its early stages.
Yubo Hu, Haochen Sun, Qin Jiang, Juan Wang, Shugang Zhang, Xingjian Lin   +5 more
doaj   +2 more sources