Ceroid-Lipofuscinoses. Batten Disease and Allied Disorders
نویسندگان
چکیده
منابع مشابه
The neuronal ceroid-lipofuscinoses.
The neuronal ceroid-lipofuscinoses (NCLs) collectively constitute the most common group of neurodegenerative diseases in childhood and usually show an autosomal recessive mode of inheritance. Despite varying ages of onset and clinical course characterized in most instances by progressive mental and motor deterioration, blindness, epileptic seizures, and premature death, all forms of NCL show un...
متن کاملTowards understanding the neuronal ceroid lipofuscinoses.
The neuronal ceroid lipofuscinoses (NCLs) are a group of genetic progressive brain diseases of children and young adults, characterized by a decline of mental and other capacities, epilepsy, and visual loss through retinal degeneration. The common pathology of NCLs is that of a storage disorder with accumulation of an autofluorescent material, ceroid lipofuscin, in combination with the degenera...
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...
متن کاملJuvenile neuronal ceroid lipofuscinosis (Batten disease): current insights
© 2016 Ostergaard. This work is published by Dove Medical Press Limited, and licensed under a Creative Commons Attribution License. The full terms of the License are available at http://creativecommons.org/licenses/by/4.0/. The license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 2016 Ostergaard. This work is publi...
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...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1989
ISSN: 1468-6244
DOI: 10.1136/jmg.26.8.542