Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances. [PDF]
Genes (Basel)Zimmern V, Minassian B.
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Health-seeking behaviour of breast cancer patients receiving care at a tertiary institution in Ghana. [PDF]
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Studies of atypical JNCL suggest overlapping with other NCL forms
Pediatric Neurology, 1998In the United States, juvenile neuronal ceroid-lipofuscinosis (JNCL) is the most common form of NCL. This study analyzed 191 cases, diagnosed on the basis of age-at-onset, clinical symptomatology, and pathologic findings. Twenty percent (40/191) of these cases from 24/120 families manifested atypical clinical symptomatology and/or pathologic findings ...
N Zhong +2 more
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5 Positional cloning of the JNCL gene, CLN3
Advances in Genetics, 2001T J Lerner
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Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) [PDF]
Human Molecular Genetics, 1999 Batten disease [juvenile-onset neuronal ceroid lipofuscinosis (JNCL)], the most common progressive encephalopathy of childhood, is caused by mutations in a novel lysosomal membrane protein (CLN3) with unknown function. In this study, we have confirmed the lysosomal localization of the CLN3 protein by immunoelectron microscopy by co-localizing it with ...
Irma Järvelä +2 more
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JNCL patients show marked brain volume alterations on longitudinal MRI in adolescence
Journal of Neurology, 2008Juvenile neuronal ceroid lipofuscinosis (JNCL, CLN3) is an inherited lysosomal disease. We used longitudinal MRI, for the first time, to evaluate the rate of brain volume alterations in JNCL. Six patients (mean ages of 12.4 years and 17.3 years) and 12 healthy controls were studied twice with 1.5 T MRI.
Koen Van Leemput, Minna Mannerkoski
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Decreased striatal dopamine transporter density in JNCL patients with parkinsonian symptoms
Neurology, 2000To explore whether striatal dopamine transporters are involved in juvenile neuronal ceroid lipofuscinosis (JNCL) with extrapyramidal signs.Seventeen patients with JNCL entered the study (mean age, 15 years; age range, 10 to 31 years). For clinical evaluation, the authors used the motor section of the Unified Parkinson's Disease Rating Scale (UPDRS ...
Juha Rinne, P Santavuori, J O Rinne
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Intracellular Trafficking of the JNCL Protein CLN3
Molecular Genetics and Metabolism, 1999Juvenile neuronal ceroid lipofuscinosis is a lysosomal storage disease that causes visual impairment, progressive mental deterioration, and eventually death. A predominant 1.02-kb deletion as well as other mutations have been described in the CLN3 gene.
R E, Haskell +2 more
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The juvenile type of neuronal ceroid lipofuscinosis (JNCL) is a recessively inherited, progressive neurodegenerative disease. In this study the levels of the antioxidant factors coenzyme Q10 (CoQ10) and vitamin E (alpha-tocopherol) were measured in plasma samples of 29 JNCL patients and compared to 48 healthy controls.
P Santavuori +2 more
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Cln3 Deltaex7/8 knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth [PDF]
Human Molecular Genetics, 2002 Juvenile-onset neuronal ceroid lipofuscinosis (JNCL; Batten disease) features hallmark membrane deposits and loss of central nervous system (CNS) neurons. Most cases of the disease are due to recessive inheritance of an approximately 1 kb deletion in the CLN3 gene, encoding battenin.
Susan Cotman +2 more
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