Results 251 to 260 of about 23,160 (290)

Bone Marrow Transplantation in Late Infantile Batten Disease and Juvenile Batten Disease

Neuropediatrics, 1997
Two patients, one each with LINCL and JNCL, underwent BMT in an attempt to alter the course of their disease. The LINCL patient received two transplants, one when asymptomatic, which was rapidly rejected, and a second BMT at age 3 years 9 months when the EEG had become abnormal. He has deteriorated in the following 2 years and now has only a few words,
B D, Lake, C G, Steward, A, Oakhill, J, Wilson, T G, Perham   +4 more
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Farnesylation of Batten Disease CLN3 Protein

Neuropediatrics, 1997
The carboxyl terminal of the predicted amino acid sequence of the Batten disease CLN3 gene protein is CQLS. This motif is expected to be a site for farnesylation at the cysteine residue. In order to determine whether this is indeed farnesylated we have carried out the in-vitro prenylation of tetrapeptides CVLS, CAIL and CQLS using a farnesyl ...
R K, Pullarkat, G N, Morris
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Batten disease: Past, present, and future

American Journal of Medical Genetics, 1988
The name Batten disease (or neuronal ceroid lipofuscinosis) is used to unify the spectrum of clinical and pathological conditions covered by the names infantile, late infantile, juvenile, and adult variants with their respective eponyms. The past was largely devoted to clinical diagnosis. The present is devoted to specific diagnostic tests.
J. Alfred Rider, Dean L. Rider, John M. Opitz, James F. Reynolds, Raju K. Pullarkat   +4 more
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Studies in Batten Disease

Archives of Neurology, 1974
Lipopigments are prominent in Batten disease (Batten-Spielmeyer-Vogt [BSV] syndrome) and are considered to represent end products of lipid peroxidation. Peroxidase is an enzyme that can hydrolyze peroxides (hydrogen peroxide) and by this means reduce lipid peroxidation.
D, Armstrong, S, Dimmitt, D E, VanWormer
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Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease)

Current Opinion in Neurology, 2001
In the past decade there have been significant advances in our understanding of the molecular genetic basis of the neuronal ceroid lipofuscinoses, a clinically and genetically heterogeneous group of childhood neurodegenerative storage disorders. Recent research progress is reviewed here, to summarize new disease gene identification, diagnostics ...
H M, Mitchison, S E, Mole
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Neurophysiological Studies in Batten's Disease

Developmental Medicine & Child Neurology, 1971
SUMMARYTwenty cases of presumed or proven juvenile amaurotic familial idiocy (Batten's disease) have been studied neurophysiologically. A characteristic eeg pattern was observed in 19 of these patients, photic activation in 7, and an abnormal evoked cerebral potential to median nerve stimulation in 5 of 6 cases so tested.
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Genetic analysis of Batten disease

Journal of Inherited Metabolic Disease, 1993
SummaryBatten disease, or neuronal ceroid‐lipofuscinosis (CLN) comprises a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurones. The three main childhood varieties — infantile (CLN1), late‐infantile (CLN2) and juvenile (CLN3) — manifest autosomal recessive inheritance.
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Abnormal cathepsin B activity in Batten disease

American Journal of Medical Genetics, 1988
Fibroblasts cultured from patients with various forms of neuronal ceroid-lipofuscinosis (NCL; Batten disease) showed variably decreasing cathepsin B activity with increasing passage number and months in culture in the presence of fetal calf serum. Cathepsin H activity and that of a wide range of lysosomal hydrolases was unaffected by these conditions ...
Glyn Dawson, Paul T. Glaser, John M. Opitz, James F. Reynolds, Raju K. Pullarkat   +4 more
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Ceroid-lipofuscinosis (Batten's Disease)

Archives of Ophthalmology, 1984
This book includes presentations from the Proceedings of the International Symposium on Human and Animal Models held in Roros, Norway, in June, 1980. The introduction includes the source of funds to study this disease and the initial description by Otto Christian Stengel.
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Moving towards therapies for Juvenile Batten disease?

Experimental Neurology, 2008
The neuronal ceroid lipofuscinoses (NCLs or Batten disease) are a group of at least nine autosomal recessively inherited monogenetic storage disorders. Because there are no effective therapies available, all forms of NCL invariably prove fatal after a prolonged period of disability.
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