Results 21 to 30 of about 654 (133)

Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis

Animal Genetics
AbstractNeuronal ceroid lipofuscinoses (NCL) are among the most prevalent neurodegenerative disorders of early life in humans. Disease‐causing variants have been described for 13 different NCL genes. In this study, a refined pathological characterization of a female rabbit with progressive neurological signs reminiscent of NCL was performed ...
Matthias Christen, Katharina M. Gregor, Ariane Böttcher‐Künneke, Mara S. Lombardo, Wolfgang Baumgärtner, Vidhya Jagannathan, Christina Puff, Tosso Leeb   +7 more
openaire   +3 more sources

Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosis

Animal Genetics
AbstractNeuronal ceroid lipofuscinosis (NCL) represents a heterogenous group of lysosomal storage diseases resulting in progressive neurodegeneration. We investigated two Small Swiss Hound littermates that showed progressive ataxia and loss of cognitive functions and vision starting around the age of 12 months.
Stefan J. Rietmann, Shenja Loderstedt, Kaspar Matiasek, Ingmar Kiefer, Vidhya Jagannathan, Tosso Leeb   +5 more
openaire   +3 more sources

MFSD8 Mutation Causing Neuronal Ceroid Lipofuscinosis Type 7 in a Bangladeshi Patient: A Rare Case Report and Review of Literature

American Journal of Medical Case Reports, 2020
The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of inherited neurodegenerative disorders. Their unifying clinical hallmarks are seizures, visual loss, myoclonus, ataxia, cognitive and motor regression which lead to early death. Based on the clinical onset of symptoms NCL-affected individuals have been classified into six categories.
Bithi Debnath, Ramesh Chandra Nath, Seikh Azimul Hoque, Narayan Chandra Saha   +3 more
exaly   +2 more sources

Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy. [PDF]

CNS Neurosci Ther
This review comprehensively examined the pathogenic genes associated with various NCL subtypes, elucidating their roles, clinical presentations, corresponding mouse models, and the advances in clinical study of potential therapeutics. In particular, we clarified the potential of novel microglial cell replacement therapies in NCLs, providing hope for ...
Zhang Y, Du B, Zou M, Peng B, Rao Y.
europepmc   +2 more sources

Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity

Frontiers in Neurology, 2022
ObjectiveTo determine the contribution of genetic etiologies in epilepsy with photosensitivity.MethodsA total of 35 epileptic patients with genetic photosensitivity from January 2019 to May 2021 were analyzed.ResultsPathogenic variants were identified in
Yue Niu, Pan Gong, Xianru Jiao, Zhao Xu, Yuehua Zhang, Zhixian Yang   +5 more
doaj   +1 more source

Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan

Animals, 2022
Neuronal ceroid lipofuscinosis (NCL) is a group of rare lethal neurodegenerative lysosomal storage diseases that occur in a range of dog breeds, including Chihuahuas.
Shahnaj Pervin, Md Shafiqul Islam, Naomi Tada, Toshihiko Tsutsui, Mohammad Mahbubur Rahman, Akira Yabuki, Martia Rani Tacharina, Tofazzal Md Rakib, Shinichiro Maki, Osamu Yamato   +9 more
doaj   +1 more source

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. [PDF]

PLoS ONE, 2014
The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy.
Liliana Catherine Patiño, Rajani Battu, Oscar Ortega-Recalde, Jeyabalan Nallathambi, Venkata Ramana Anandula, Umashankar Renukaradhya, Paul Laissue   +6 more
doaj   +1 more source

The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter [PDF]

The American Journal of Human Genetics, 2007
The late-infantile-onset forms are the most genetically heterogeneous group among the autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid lipofuscinoses (NCLs). The Turkish variant was initially considered to be a distinct genetic entity, with clinical presentation similar to that of other forms of late-infantile-onset NCL (
Siintola, Eija, Topcu, Meral, Aula, Nina, Lohi, Hannes, Minassian, Berge A., Paterson, Andrew D., Liu, Xiao-Qing, Wilson, Callum, Lahtinen, Ulla, Anttonen, Anna-Kaisa, Lehesjoki, Anna-Elina   +10 more
openaire   +3 more sources

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis [PDF]

Brain, 2009
The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative disorders of childhood, are characterized by the accumulation of autofluorescent storage material mainly in neurons. Although clinically rather uniform, variant late-infantile onset NCL (vLINCL) is genetically heterogeneous with four major underlying genes identified so far ...
Kousi, Maria, Siintola, Eija, Dvorakova, Lenka, Vlaskova, Hana, Turnbull, Julie, Topcu, Meral, Yuksel, Deniz, Gokben, Sarenur, Minassian, Berge A., Elleder, Milan, Mole, Sara E., Lehesjoki, Anna-Elina   +11 more
openaire   +3 more sources

Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas

Molecular Genetics and Metabolism, 2016
The neuronal ceroid lipofuscinoses (NCLs) are hereditary neurodegenerative disorders characterized by progressive declines in neurological functions, seizures, and premature death. NCLs result from mutations in at least 13 different genes. Canine versions of the NCLs can serve as important models in developing effective therapeutic interventions for ...
Ashwini, Akanksha, D'Angelo, Antonio, Yamato, Osamu, Giordano, Cristina, Cagnotti, Giulia, Harcourt-Brown, Tom, Mhlanga-Mutangadura, Tendai, Guo, Juyuan, Johnson, Gary S., Katz, Martin L.   +9 more
openaire   +2 more sources