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Jansky Bielschowsky

Elizabeth Maria Aparecida Barasnevicius Quagliato, Daniel Martins Rocha, Paula Yuri Sacai, Sung Song Watanabe, Solange Rios Salomão, Adriana Berezovsky
Purpose: To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG) findings of 15 patients with the neuronal ceroid lipofuscinosis (NCL) phenotype and to establish the role of ERG testing in NCL diagnosis. Methods: The medical records of five patients with infantile NCL, five with Jansky-Bielschowsky disease, and five with juvenile NCL who underwent full-field ERG testing were retrospectively analyzed. Results: Progressive vision loss was the initial symptom in 66...
July 2017: Arquivos Brasileiros de Oftalmologia
Anton Orlin, Dolan Sondhi, Matthew T Witmer, Matthew M Wessel, Jason G Mezey, Stephen M Kaminsky, Neil R Hackett, Kaleb Yohay, Barry Kosofsky, Mark M Souweidane, Michael G Kaplitt, Donald J D'Amico, Ronald G Crystal, Szilárd Kiss
BACKGROUND: Late infantile neuronal ceroid lipofuscinosis (LINCL), one form of Batten's disease is a progressive neurodegenerative disorder resulting from a CLN2 gene mutation. The spectrum of ophthalmic manifestations of LINCL and the relationship with neurological function has not been previously described. METHODS: Patients underwent ophthalmic evaluations, including anterior segment and dilated exams, optical coherence tomography, fluorescein and indocyanine green angiography...
2013: PloS One
Alvaro Paniagua Bravo, N D Forkert, A Schulz, U Löbel, J Fiehler, X Ding, J Sedlacik, M Rosenkranz, E Goebell
PURPOSE: The two most prevalent forms of neuronal ceroid lipofuscinosis (NCL) are the juvenile form (Batten disease, CLN3) and late infantile form (Jansky-Bielschowsky disease, CLN2). The aim of this study was to compare quantitative T2-values of brain tissue in CLN2 and CLN3 patients with reference values from age-matched normal subjects. METHODS: Twenty-three CLN2 (n = 6) and CLN3 (n = 17) patients (m:f = 11:12) underwent MRI examination including a multiecho T2 sequence...
September 2013: Clinical Neuroradiology
Roshan Koul, Amna Al-Futaisi, Anuradha Ganesh, Shivayogi Rangnath Bushnarmuth
This study was conducted to see the pattern of neuronal ceroid lipofuscinosis in Oman. Eleven children (10 male) with late-infantile neuronal ceroid lipofuscinosis were seen in 5 families. Most of the patients, 9 of 11 (81.8%), were CLN2 type (late-infantile neuronal ceroid lipofuscinosis or Jansky-Bielschowsky), and 2 patients were the atypical type. Five children were seen in 1 extended family. All children had onset with seizures except in 1 family. The majority had onset between ages 1 to 4 years. Nine and of the 11 children had onset with myoclonic seizures...
May 2007: Journal of Child Neurology
Ruediger Lorenz
The casuistic of a child suffering from late infantile neuronal ceroid lipofuscinosis (NCL) of the type Jansky-Bielschowsky aims to provide a description of possible therapeutic options for the severe spastic and the debilitating myocloni that occur within the context of this disorder. Moreover, it also should include a discussion of potential indications for the application of delta 9-Tetrahydrocannabinol (THC) (Dronabinol, Marinol) in childhood.
October 2002: Neuro Endocrinology Letters
Shinji Saitoh
No abstract text is available yet for this article.
2002: Ryōikibetsu Shōkōgun Shirīzu
S E Mole, M Gardiner
The neuronal ceroid lipofuscinoses comprise a group of inherited neurodegenerative disorders characterized by the accumulation of autoflourescent lipopigment in neurones and other cell types. Three main childhood sub-types occur: infantile (Haltia-Santavouri disease, locus CLN1), late-infantile (Jansky-Bielschowsky disease, locus CLN2) and juvenile (Spielmeyer-Sjogren-Vogt, Batten disease, locus CLN3). Inheritance is autosomal recessive. The basic biochemical defect remains unknown. The infantile disease Iocus (CLN1) has been mapped to human chromosome 1p32 and the juvenile disease Iocus (CLN3) to human chromosome 16p12 by linkage analysis...
0: International Journal of Neurology
Yuko Yamada, Katsushi Doi, Shinichi Sakura, Yoji Saito
PURPOSE: To describe the anesthetic management of a patient with Jansky-Bielschowsky disease (JBD), the late infantile form of neuronal ceroid lipofuscinosis, characterized by dementia, severe and drug resistant grand mal, myoclonic seizures, and blindness. CLINICAL FEATURES: A 14-yr-old girl with JBD was scheduled for resection of a gingival tumour and an infected sinus in the sacral area. Her preanesthetic examination revealed extreme muscle atrophy and dementia...
January 2002: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
R B Wheeler, M Schlie, E Kominami, L Gerhard, H H Goebel
Among the now eight genetic types of neuronal ceroid-lipofuscinoses (NCL), CLN1 to CLN8, CLN2 is considered classic late-infantile NCL. It was originally described by Jansky in a family of eight children with four of them affected [Jansky J (1908) Sborn Lék 13:165-196] and, subsequently, by Bielschowsky in a family of three children each of whom was affected, and, hence, termed Jansky-Bielschowsky type of NCL. Earlier, archival studies of Bielschowsky's original post-mortem tissue blocks had documented accumulation of autofluorescent lipopigments with a curvilinear ultrastructure...
November 2001: Acta Neuropathologica
A V Delgado-Escueta, S Ganesh, K Yamakawa
The genetic progressive myoclonus epilepsies (PMEs) are clinically characterized by the triad of stimulus sensitive myoclonus (segmental lightning like muscular jerks), epilepsy (grand mal and absences) and progressive neurologic deterioration (dementia, ataxia, and various neurologic signs depending on the cause). Etiologically heterogenous, PMEs are rare and mostly autosomal recessive disorders, with the exception of autosomal dominant dentatorubral-pallidoluysian atrophy and mitochondrial encephalomyopathy with ragged red fibers (MERRF)...
2001: American Journal of Medical Genetics
S Mole, M Gardiner
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterised by the accumulation of autofluorescent storage material in neurons and other cell types. The clinical features include visual impairment, progressive myoclonic epilepsy, and cognitive decline reflecting progressive neurodegeneration. The NCLs are subdivided into several subtypes according to age of onset, clinical course, and ultrastructure of the storage material. The molecular genetic basis of this group of disorders has recently been clarified...
1999: Epilepsia
M Philippart, E da Silva, H T Chugani
Positron Emission Tomography (PET) with 2-deoxy-2 [18F]-fluoro-D-glucose provides a measure of functional brain activity, particularly in the dendritic field. In CLN3 (juvenile neuronal ceroid lipofuscinosis or juvenile Batten disease, with fingerprint inclusions) hypometabolism slowly spreads from calcarine to anterior areas, sparing subcortical structures and brainstem. In CLN2 (late infantile neuronal ceroid lipofuscinosis or Jansky-Bielschowsky disease, with curvilinear inclusions) degeneration is rapid with generalized cortical and subcortical hypometabolism...
February 1997: Neuropediatrics
K Liewendahl, S L Vanhanen, H Heiskala, R Raininko, P Nikkinen, J Launes, P Santavuori
Brain perfusion was studied with the Tc-99m-HMPAO SPECT method in 19 INCL patients, 21 JNCL patients and 5 patients with Jansky-Bielschowsky variant disease (JBVD). The typical SPECT findings at an early stage of INCL were bilateral anterior frontal, posterior temporoparietal and occipital hypoperfusion, whereas reduction in cerebellar perfusion appeared later. However, perfusion of basal ganglia and thalami, although atrophic on MRI, was usually well preserved up to the terminal stage. All JNCL patients except one had at least one hypoperfused area...
February 1997: Neuropediatrics
J Tyynelä, J Suopanki, P Santavuori, M Baumann, M Haltia
The neuronal ceroid-lipofuscinoses (NCL) are among the most common inherited neurodegenerative disorders of childhood. The genomic defect causing a variant late infantile neuronal ceroid-lipofuscinosis (vLINCL, also called CLN-5 or variant Jansky-Bielschowsky disease) has recently been localized to chromosome 13q22, thus delineating this disease as a separate entity. This particular form of NCL is clinically well defined, but lacks pathomorphological and biochemical description. The present analyses indicate that subunit c of the mitochondrial ATP synthase is the major protein in vLINCL brain storage cytosomes...
April 1997: Journal of Neuropathology and Experimental Neurology
H H Goebel, L Gerhard, E Kominami, M Haltia
The tissues from three patients with late-infantile NCL originally described by Max Bielschowsky became available to apply modern techniques such as fluorescence microscopy, electron microscopy and immunohistochemistry. While regular tinctorial preparations of the tissues documented a neuronal storage disorder in all three patients' tissues, the accumulated material proved to be autofluorescent, showed the ultrastructure of curvilinear lipopigments, and reacted strongly with an antibody against the subunit-C of mitochondrial ATP synthase, a major component of lipopigments in NCL and also with an antibody against sphingolipid activator proteins...
July 1996: Brain Pathology
S E Mole
Major advances in the molecular genetic analysis of the neuronal ceroid lipofuscinoses (NCL) have recently been made: the genes for two major types have been identified and the chromosomal location for a third defined. CLN1, the gene for infantile NCL (Santavuori-Haltia disease) encodes palmitoyl protein thioesterase (PPT). Most patients (75% of disease chromosomes) have the same point mutation. In contrast, CLN3, the gene for juvenile NCL (Batten or Spielmeyer-Vogt-Sjögren disease) is not a previously known gene, nor does its product display homology to any previously described proteins...
1996: Journal of Inherited Metabolic Disease
R Pego, M C Amigo, D Escriche, J Romero, C Navarro
Ceroid lipofuscinosis (CLF) is a progressive hereditary neurodegenerative disease characterised by deposits in the central nervous system and other tissues of ceroid lipopigment. Symptomatology and clinical course of the disease are heterogeneous and up to ten types have been distinguished, although the most frequent and best known are the Santavuori-Haltia infantile form, the Jansky-Bielschowsky late infantile form, the Spielmeyer-Vogt juvenile form and the Kufs adult form. We present here three cases diagnosed as having juvenile ceroid lipofuscinosis by means of muscular biopsy...
May 1995: Revista de Neurologia
P Santavuori, J Rapola, R Raininko, T Autti, M Lappi, A Nuutila, J Launes, K Sainio
No abstract text is available yet for this article.
1993: Journal of Inherited Metabolic Disease
K E Wisniewski, E Kida, F Connell, M Elleder, L Eviatar, R J Konkol
Clinicopathological studies of a series of nine children with a new subform of Jansky-Bielschowsky disease or late infantile neuronal ceroid lipofuscinosis (LINCL) is presented. The onset of this subform is between 2.5-3.5 years of age with initial neurological symptoms of abnormal motor skills caused by cerebellar and extrapyramidal signs. Soon after dementia, myoclonic seizures are followed. Visual impairment is more clearly seen after the age of 5 or 6 years. The ultrastructural studies of the skin and/or buffy coat showed abundant lysosomal storage of curvilinear profiles, rarely intermixed with fingerprint profiles...
June 1993: Neuropediatrics
R Williams, J Vesa, I Järvelä, T McKay, H Mitchison, E Hellsten, A Thompson, D Callen, G Sutherland, D Luna-Battadano
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. Inheritance is autosomal recessive. Three main childhood subtypes are recognized: infantile (Haltia-Santavuori disease; MIM 256743), late infantile (Jansky-Bielschowsky disease; MIM 204500), and juvenile (Spielmeyer-Sjögren-Vogt, or Batten, disease; MIM 204200). The gene loci for the juvenile (CLN3) and infantile (CLN1) types have been mapped to human chromosomes 16p and 1p, respectively, by linkage analysis...
October 1993: American Journal of Human Genetics
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