Results 11 to 20 of about 425 (135)
The paediatric rheumatologist and orphan disease – a story without happy ending
Rheumatology, 2016 Orphan diseases are not a common challenge in the everyday practice of the rheumatologist. Despite their extremely rare occurrence one of the patients under our care developed one of them – neuronal ceroid lipofuscinosis, the most frequent ...
Justyna Roszkiewicz +2 more
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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 +4 more
doaj +1 more source
MRI findings of neuronal ceroid lipofuscinosis in a cat
Journal of Feline Medicine and Surgery Open Reports, 2018 Case summary A 2-year-old male domestic shorthair cat presented to the University of Liverpool Small Animal Teaching Hospital with a 2 week history of altered mentation, blindness and focal epileptic seizures.
Crystal White +5 more
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The LINCE Project: A Pathway for Diagnosing NCL2 Disease
Frontiers in Pediatrics, 2022 IntroductionNeuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders.
Daniel Rodrigues +10 more
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EEG in Late Infantile Neuronal Ceroid Lipofuscinosis
Pediatric Neurology Briefs, 2001 The clinical and electroencephalographic findings in 18 cases (8 girls, 10 boys) with late infantile neuronal ceroid lipofuscinosis (NCL) are reported from the University of Genova, and University of Siena, Italy.
J Gordon Millichap
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Epilepsy in Juvenile Neuronal Ceroid Lipofuscinosis
Pediatric Neurology Briefs, 2000 The clinical characteristics of epilepsy and optimal antiepileptic drug therapy were surveyed in 60 patients (mean age 16 years, range 5-33) with juvenile neuronal ceroid lipofuscinosis (JNCL), followed at the University of Helsinki, Finland.
J Gordon Millichap
doaj +1 more source
Phenotypes of Juvenile Batten Disease
Pediatric Neurology Briefs, 1999 The phenotypes of 10 Finnish juvenile neuronal ceroid lipofuscinosis (JNCL; late-onset Batten disease) patients were correlated with the genotypes in a study at Helsinki University, Finland; and the Rayne Institute, University College, London, UK.
J Gordon Millichap
doaj +1 more source
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 +12 more
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Cardiac Involvement in Batten Disease
Pediatric Neurology Briefs, 2011 The onset and progression of cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease) are studied in 29 children and adolescents with genetically verified disease at Aarhus University Hospital, Skejby, Denmark.
J Gordon Millichap
doaj +1 more source
Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis
Neurobiology of Disease, 2008 Juvenile neuronal ceroid lipofuscinosis (JNCL) is an autosomal recessively inherited neurodegenerative disorder that results from mutations in the CLN3 gene.
Martin L. Katz +3 more
doaj +1 more source