Results 171 to 180 of about 6,644 (221)

Equine neuronal ceroid lipofuscinosis

Acta Neuropathologica, 2001
Neuronal ceroid lipofuscinosis (NCL) is an inherited, neurodegenerative disorder with fatal outcome in humans. It has also been described in some animal species; this is the first report of NCL in equines. Three horses showed developmental retardation, slow movements and loss of appetite at the age of six months.
A, Url, B, Bauder, J, Thalhammer, N, Nowotny, J, Kolodziejek, N, Herout, S, Fürst, H, Weissenböck   +7 more
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Neuronal Ceroid-Lipofuscinosis

Archives of Neurology, 1977
To the Editor.— We read with interest the article by Markesbery et al in the September issue of theArchives. We believe these authors' studies confirm our initial reports of the contribution to the diagnosis of the neuronal ceroid-lipofuscinosis by electron microscopical study of lymphocytes in patients with clinical manifestation of the disease.
P. M. MacLeod, C. L. Dolman
openaire   +1 more source

Neuronal ceroid-lipofuscinosis and metachromasia

Acta Neuropathologica, 1980
Two cases of neuronal ceroid-lipofuscinosis are described. They presented in the white matter granular material which stained metachromatically with toluidine blue in paraffin sections. The origin of this material is discussed.
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MRI in neuronal ceroid lipofuscinosis

Neurological Sciences, 2000
Magnetic resonance imaging in neuronal ceroid lipofuscinosis (NCL) demonstrates cerebral and cerebellar atrophy, T2-hyperintensity of the lobar white matter and thinning of the cerebral cortex. The association of these findings, although non specific, can be observed in all the different forms of NCL, narrows the differential diagnosis of the infantile
openaire   +2 more sources

Neuronal ceroid-lipofuscinosis in Borderdale sheep

New Zealand Veterinary Journal, 2002
To describe the gross and histological lesions of a neurological disease in Borderdale sheep characterised clinically by blindness and circling, as a basis to its classification.Formalin-fixed tissues were processed into paraffin wax and epoxy resin for light and electron microscopy of variously stained sections.Lesions were those of a lysosomal ...
Rd Jolly, D G Arthur, Graham W Kay
exaly   +3 more sources

Adult Type of Neuronal Ceroid Lipofuscinosis

Developmental Neuroscience, 1991
Adult neuronal ceroid lipofuscinosis (NCL), also called Kufs'' disease, is clinically distinct from the other NCLs. It is a rare condition which is difficult to diagnose. More than 50% of the reported cases of Kufs'' disease are not adult NCL and correspond very likely to a heterogeneous spectrum of lipidoses. Various clinical and genetic phenotypes of
openaire   +4 more sources

Neuronal Ceroid-Lipofuscinosis

European Neurology, 2008
The autopsy material of two brothers suffering of neuronal ceroid-lipofuscinosis was studied histologically, electron microscopically, and neurochemically. The brain of one of the patients was also biopsied during life. There was marked cerebral atrophy with severe neuronal and myelin loss and gliosis.
T.J. Nevalainen, M. Panelius, P.J. Riekkinen   +2 more
openaire   +1 more source

Neuronal Ceroid Lipofuscinosis

2010
Neuronal ceroid lipofuscinoses (NCL) are lysosomal storage diseases comprising a group of progressive neurodegenerative disorders inherited in an autosomal recessive manner. In children, they represent the most common neurodegenerative disorder. Three major types of NCL are distinguished clinically: infantile, late onset infantile, and juvenile.
Margit Pavelka, Jürgen Roth
openaire   +2 more sources

The Newfoundland aggregate of neuronal ceroid-lipofuscinosis

American Journal of Medical Genetics, 1988
We have found a group of individuals with the late infantile, the early juvenile variant, and juvenile neuronal ceroid-lipofuscinosis (NCL) in Newfoundland, an island with a population of 500,000. In the past 25 yr, we have ascertained 44 cases of NCL in 32 sibships: 32 cases of late infantile NCL (LINCL) in 24 sibships, 11 cases of the early juvenile ...
Eva Andermann, J. C. Jacob, Frederick Andermann, Stirling Carpenter, Leonhard Wolfe, Samuel F. Berkovic, John M. Opitz, James F. Reynolds, Raju K. Pullarkat   +8 more
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Computed tomography in neuronal ceroid lipofuscinosis

Neuroradiology, 1980
The computed tomography (CT) findings in a verified case of neuronal ceroid lipofuscinosis (NCL) are presented. CT revealed diffuse and severe cerebral atrophy, reflected by generalized subarachnoid space enlargement and symmetric ventricular dilatation. There was no evidence of abnormalities of the white matter.
A, Valavanis, R L, Friede, O, Schubiger, J, Hayek   +3 more
openaire   +2 more sources