Results 31 to 40 of about 1,806 (157)

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

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

Neuronal ceroid lipofuscinosis: A case report

Bangabandhu Sheikh Mujib Medical University Journal, 2023
Neuronal ceroid lipofuscinoses (NCL) represent severe neurodegenerative conditions which is one of the lysosomal storage disorders. There are four main clinical forms of NCL among which late infantile variety is the second most common condition.
Gopen Kumar Kundu, Masuma Akhter, Sanjida Ahmed, Bishnu Pada Dey, Shah Noor Hassan   +4 more
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Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association

Epilepsy & Behavior Reports, 2020
The neuronal ceroid lipofuscinoses (NCL) are a collection of lysosomal storage diseases characterised by the accumulation of characteristic inclusions containing lipofuscin in various tissues of the body and are one of the causes of progressive myoclonic
Jamie Talbot, Priyanka Singh, Clinda Puvirajasinghe, Sanjay M. Sisodiya, Fergus Rugg-Gunn   +4 more
doaj   +1 more source

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   +1 more source

The Neuronal Ceroid-Lipofuscinoses [PDF]

Journal of Neuropathology & Experimental Neurology, 2003
The neuronal ceroid-lipofuscinoses (NCLs) collectively constitute the most common group of neurodegenerative diseases in childhood and usually show an autosomal recessive mode of inheritance. Despite varying ages of onset and clinical course characterized in most instances by progressive mental and motor deterioration, blindness, epileptic seizures ...
openaire   +2 more sources

Neuronal ceroid lipofuscinoses

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2009
The neuronal ceroid lipofuscinoses (NCL) are severe neurodegenerative lysosomal storage disorders of childhood, characterized by accumulation of autofluorescent ceroid lipopigments in most cells. NCLs are caused by mutations in at least ten recessively inherited human genes, eight of which have been characterized.
Jalanko, Anu, Braulke, Thomas
openaire   +2 more sources

Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis

Biology Open, 2013
Summary Neuronal ceroid lipofuscinoses, the most common fatal childhood neurodegenerative illnesses, share many features with more prevalent neurodegenerative diseases. Neuronal ceroid lipofuscinoses are caused by mutations in CLN genes.
Katja M. Kanninen, Alexandra Grubman, Aphrodite Caragounis, Clare Duncan, Sarah J. Parker, Grace E. Lidgerwood, Irene Volitakis, George Ganio, Peter J. Crouch, Anthony R. White   +9 more
doaj   +1 more source

Neuronal ceroid-lipofuscinoses

Translational Science of Rare Diseases, 2017
The neuronal ceroid-lipofuscinoses (NCLs) are a group of recessively inherited diseases characterized by progressive neuronal loss, accumulation of intracellular lipofuscin-like autofluorescent storage material with distinctive ultrastructural features, and clinical signs and symptoms of progressive neurodegeneration. Initially classified by the age of
Rakheja Dinesh, Bennett Michael J.
openaire   +2 more sources

Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.

PLoS ONE, 2013
Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis.
Daisuke Hasegawa, Shinji Tamura, Yuya Nakamoto, Naoaki Matsuki, Kimimasa Takahashi, Michio Fujita, Kazuyuki Uchida, Osamu Yamato   +7 more
doaj   +1 more source