Results 21 to 30 of about 2,376 (188)

Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

Journal of Medical Case Reports, 2018
Background The neuronal ceroid lipofuscinoses are a group of neurodegenerative, lysosomal storage disorders. They are inherited as an autosomal recessive pattern with the exception of adult neuronal ceroid lipofuscinosis, which can be inherited in either
Ali Hosseini Bereshneh, Masoud Garshasbi
doaj   +2 more sources

Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions [PDF]

Neurobiology of Disease, 2017
The neuronal ceroid lipofuscinoses (NCLs) are devastating inherited progressive neurodegenerative diseases, with most forms having a childhood onset of clinical signs.
Martin L. Katz, Eline Rustad, Grace O. Robinson, Rebecca E.H. Whiting, Jeffrey T. Student, Joan R. Coates, Kristina Narfstrom   +6 more
doaj   +2 more sources

Global Brain Transcriptome Analysis of a Neuronal Ceroid Lipofuscinoses Mouse Model [PDF]

ASN Neuro, 2019
In humans, homozygous mutations in the TPP1 gene results in loss of tripeptidyl peptidase 1 (TPP1) enzymatic activity, leading to late infantile neuronal ceroid lipofuscinoses disease.
Miriam S. Domowicz, Wen-Ching Chan, Patricia Claudio-Vázquez, Judith G. Henry, Christopher B. Ware, Jorge Andrade, Glyn Dawson, Nancy B. Schwartz   +7 more
doaj   +2 more sources

Perioperative care of a patient with neuronal ceroid lipofuscinoses

Saudi Journal of Anaesthesia, 2013
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited, autosomal recessive, and progressive neurodegenerative diseases, which result from an enzymatic defect or the deficiency of a transmembrane protein, leading to the accumulation of ...
Hiromi Kako, David P Martin, Joseph D Tobias   +2 more
doaj   +2 more sources

Sunken eyes as a peculiar finding in neuronal ceroid lipofuscinoses [PDF]

Arquivos de Neuro-Psiquiatria
Raphael Pinheiro Camurugy da Hora, Victor Rebelo Procaci, João Victor Cabral Correia Férrer, Thiago Yoshinaga Tonholo Silva, Flávio Moura de Rezende Filho, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +6 more
doaj   +2 more sources

Diagnosis of the neuronal ceroid lipofuscinoses: An update

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2006
For the majority of families affected by one of the neuronal ceroid lipofuscinoses (NCLs), a biochemical and/or genetic diagnosis can be achieved. In an individual case this information not only increases understanding of the condition but also may influence treatment choices and options.
Williams, Ruth E., Aberg, Laura, Autti, Taina, Goebel, Hans H., Kohlschütter, Alfried, Lönnqvist, Tuula   +5 more
openaire   +3 more sources

The Neuronal Ceroid Lipofuscinoses

Abstract The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited lysosomal storage disorders that share similar pathological and clinical features. They are characterized by accumulation of autofluorescent storage material within the lysosome and the death of neurons.
Mole SE.
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

Converging links between adult-onset neurodegenerative Alzheimer’s disease and early life neurodegenerative neuronal ceroid lipofuscinosis?

Neural Regeneration Research, 2023
Evidence from genetics and from analyzing cellular and animal models have converged to suggest links between neurodegenerative disorders of early and late life. Here, we summarize emerging links between the most common late life neurodegenerative disease,
Marcel Klein, Guido Hermey
doaj   +1 more source

Genetics of the neuronal ceroid lipofuscinoses (Batten disease). [PDF]

Biochim Biophys Acta, 2015
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults and are grouped together by similar clinical features and the accumulation of autofluorescent storage material.
Mole SE, Cotman SL.
europepmc   +2 more sources