منابع مشابه
Immunosuppression alters disease severity in juvenile Batten disease mice.
Autoantibodies to brain proteins are present in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease) patients and in the Cln3-/- mouse model of this disease, suggesting an autoimmune component to pathogenesis. Using genetic or pharmaceutical approaches to attenuate this immune response in Cln3-/- mice, we demonstrate decreased neuroinflammation, decreased deposition of immunoglobulin G in t...
متن کاملCarrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).
Batten disease, or the juvenile form of neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder manifesting with progressive blindness, seizures, and dementia, leading to an early death. The CLN3 locus which is involved in Batten disease had been localized to chromosome 16p11.2. Linkage disequilibrium has been observed between CLN3 and polymorphic microsatellite mar...
متن کاملDefective lysosomal arginine transport in juvenile Batten disease.
Mutations in the CLN3 gene, which encodes a lysosomal membrane protein, are responsible for the neurodegenerative disorder juvenile Batten disease. A previous study on the yeast homolog to CLN3, designated Btn1p, revealed a potential role for CLN3 in the transport of arginine into the yeast vacuole, the equivalent organelle to the mammalian lysosome. Lysosomes isolated from lymphoblast cell lin...
متن کاملEfficacy of phosphodiesterase‐4 inhibitors in juvenile Batten disease (CLN3)
OBJECTIVE Juvenile neuronal ceroid lipofuscinosis (JNCL), or juvenile Batten disease, is a pediatric lysosomal storage disease caused by autosomal recessive mutations in CLN3, typified by blindness, seizures, progressive cognitive and motor decline, and premature death. Currently, there is no treatment for JNCL that slows disease progression, which highlights the need to explore novel strategie...
متن کاملValproate-induced hyperammonemia in juvenile ceroid lipofuscinosis (Batten disease)
PURPOSE Valproate-induced hyperammonemia (VHA) and hyperammonemic encephalopathy (VHE) are well-known complications of valproate (VPA) treatment. Currently recognised risk factors for VHE include a high VPA dosage, the need for polytherapy and long duration of treatment. Despite the severe nature of the epilepsy, presence of concomitant psychiatric manifestations, and frequent need for poly-pha...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1999
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-13-2-13