Carrier detection of Batten disease (Juvenile neuronal ceroid-lipofuscinosis)
نویسندگان
چکیده
منابع مشابه
Carrier 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 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 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 کاملProgress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis.
PURPOSE OF REVIEW The identification of genes mutated in the neuronal ceroid lipofuscinoses has accelerated research into the mechanisms that underlie these fatal autosomal recessive storage disorders, which are often referred to as Batten disease. This review summarizes progress in this field since October 2001, describing advances in cell biology, the characterization of new animal models of ...
متن کاملWith Neuronal Ceroid Lipofuscinosis
An 11-year-old girl with juvenile neuronal ceroid lipofuscinosis developed acute pancreatitis secondary to valproic acid treatment, which resolved after discontinuation of the medication and conservative treatment. To my knowledge, this is the first reported case of neuronal ceroid lipofuscinosis with valproate-associated pancreatitis. Children with neuronal ceroid lipofuscinosis may be suscept...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 1995
ISSN: 0148-7299,1096-8628
DOI: 10.1002/ajmg.1320570246