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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

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

Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response [PDF]

BMC Neuroscience, 2007
Background The infantile form of neuronal ceroid lipofuscinosis (also known as infantile Batten disease) is caused by hereditary deficiency of a lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1), and is characterized by severe cortical ...
Hofmann Sandra L, Lu Jui-Yun, Qiao Xingwen   +2 more
doaj   +2 more sources

MRI findings in neuronal ceroid lipofuscinosis

Radiology Case Reports, 2020
Neuronal ceroid lipofuscinosis is a rare cause for developmental delay and seizures that results in neurodegeneration. Presented here is a case of a 5-year-old male who presented for MRI following a delay in achieving developmental milestones and ...
Anna M. Crain, Deanna L. Kitchen, MD, MPH, Nikhil Godiyal, Cory M. Pfeifer, MD, MPH   +3 more
doaj   +3 more sources

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. [PDF]

PLoS ONE, 2011
Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL), caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of ...
Yi Cao, John F Staropoli, Sunita Biswas, Janice A Espinola, Marcy E MacDonald, Jong-Min Lee, Susan L Cotman   +6 more
doaj   +6 more sources

Editorial: Neuronal ceroid lipofuscinosis: A multidisciplinary update [PDF]

Frontiers in Neurology, 2022
Alessandro Simonati, Ruth Elizabeth Williams, Angela Schulz   +2 more
doaj   +2 more sources

Progressive retinal degeneration and glial activation in the Cln6nclf mouse model of neuronal ceroid lipofuscinosis : a beneficial effect of DHA and Curcumin supplementation [PDF]

, 2013
Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative lysosomal storage disorders characterized by vision loss, mental and motor deficits, and spontaneous seizures.
Jägle, Herbert, Karlstetter, Marcus, Langiu, Monica, Langmann, Thomas, Mirza, Myriam, Ruonala, Mika O., Somogyi, Aleksandra, Swaroop, Anand, Tamm, Ernst R., Volz, Cornelia   +9 more
core   +18 more sources

Editorial: Neuronal ceroid lipofuscinosis: molecular genetics and epigenetics [PDF]

Frontiers in Genetics
Paschalis Nicolaou
doaj   +2 more sources

A clinical case of type 2 neuronal ceroid lipofuus cynosis caused by a homozygous mutation in the TPP1 gene

Лечащий Врач, 2022
Neuronal ceroid lipofuscinosis is a group of diseases caused by the accumulation of autofluorescent lipid-containing pigments: ceroid and lipofuscin. Pigments form intracellular inclusions that look like curvilinear layered bodies (sometimes resembling ...
A. V. Serezhkina, A. A. Bulkа, I. G. Khmelevskaya, N. S. Razinkova, T. A. Minenkova, M. O. Babkin   +5 more
doaj   +1 more source

Paroxysmal sympathetic hyperactivity following status epilepticus in a 22-year-old with Juvenile Neuronal Ceroid Lipofuscinosis: A case report

Epilepsy & Behavior Reports, 2021
The Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of rare neurolipidosis disorders characterized by progressive blindness, deterioration of speech and motor function, cognitive decline, behavior problems, seizures, and premature death. We report
Molly D. Himmelrich, Jennifer M. Pritchard, Camilo Gutierrez, Tara L.M. Dutta   +3 more
doaj   +1 more source