Results 21 to 30 of about 1,359 (178)

Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice

Molecular Therapy - Methods and Clinical Development, 2021
Batten disease is a family of rare, fatal, neuropediatric diseases presenting with memory/learning decline, blindness, and loss of motor function. Recently, we reported the use of an AAV9-mediated gene therapy that prevents disease progression in a mouse
Katherine White, Kathrin Meyer, Tyler B Johnson   +2 more
exaly   +3 more sources

Characterisation of early changes in ovine CLN5 and CLN6 Batten disease neural cultures for the rapid screening of therapeutics

Neurobiology of Disease, 2017
Batten disease (neuronal ceroid lipofuscinosis) refers to a group of neurodegenerative lysosomal storage diseases predominantly affecting children. There are currently no effective treatments, and the functions of many of the associated gene products are
Hannah Best, Stephanie Hughes, Beulah Leitch   +2 more
exaly   +3 more sources

Identification of a novel mutation of rare CLN6 case and computation protein structure [PDF]

European Journal of Biological Research, 2023
Neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, jointly account for the highest incidences of hereditary neurodegenerative disease in childhood.
Fozhan Saboori, Nazanin Ghaderi Nejad, Naghmeh Gholipour   +2 more
doaj   +1 more source

Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in <i>CLN6</i>. [PDF]

Genes (Basel)
A 23-month-old neutered male dog of unknown ancestry presented with a history of progressive neurological signs that included anxiety, cognitive impairment, tremors, seizure activity, ataxia, and pronounced visual impairment. The clinical signs were accompanied by global brain atrophy.
Mhlanga-Mutangadura T, Bullock G, Cerda-Gonzalez S, Katz ML.   +3 more
europepmc   +4 more sources

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

Biochemical and Biophysical Research Communications, 2009
The neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders with typical autofluorescence material stored in tissues. Ten clinical NCL forms and eight causative genes are known. Mutations in CLN6 have been reported in roughly 30 patients, mostly in association with the variant late-infantile NCL (v-LINCL) phenotype.
Cannelli N., Garavaglia B., SIMONATI, Alessandro, Aiello C., Barzaghi C., PEZZINI, Francesco, Cilio M. R., Biancheri R., Morbin M., DALLA BERNARDINA, Bernardo, Granata T., Tessa A., Invernizzi F., Pessagno A., Boldrini R., Zibordi F, Grazian L., Claps D., Carrozzo R., Mole S. E., Nardocci N., Santorelli F. M.   +21 more
openaire   +4 more sources

Location and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosis

Neurobiology of Disease, 2008
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are fatal inherited neurodegenerative diseases. Sheep affected with the CLN6 form provide a valuable model to investigate underlying disease mechanisms from preclinical stages.
David Palmer, Jonathan Cooper, Manfred J Oswald   +2 more
exaly   +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

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

CLN6 Variant of Late Infantile Neuronal Ceroid Lipofuscinosis Caused by a Homozygous Mutation: Case Report in Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2023
Introduction: Neuronal ceroid lipofuscinosis (NCLs) is an autosomal recessive neurodegenerative disorders group. We report the first case in Colombia involving a new genetically confirmed variant of a homozygous CLN6 mutation.
Daniel Eduardo Manrique Hernandez, Diana Sanchez-Peñarete, Sandra Milena Castellar-Leones, Lisseth Cabarcas-Castro   +3 more
doaj   +1 more source