Ceroid-lipofuscinosis
Ceroid lipofuscinosis (Batten disease) : a thesis presented in partial fulfilment of the requirements for the degree of Doctor of Philosophy at Massey University
... the ceroid-lipofuscinoses have been grouped with the lipidoses on the basis of their histological staining properties which have implied a lipid-based pathogenesis of these ...in ...
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Assessment of Disease Severity in Late Infantile Neuronal Ceroid Lipofuscinosis Using Multiparametric MR Imaging
... A quantitative noninvasive MR imaging– based disease severity score for late infantile neuronal ceroid lipofuscinosis has been presented. The metric combines data from brain-water apparent diffusion ...
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Non-invasive assessment of retinal alterations in mouse models of infantile and juvenile neuronal ceroid lipofuscinosis by spectral domain optical coherence tomography
... neuronal ceroid lipofuscinoses constitute a group of fatal inherited lysosomal storage diseases that manifest in profound neurodegeneration in the ...and ceroid lipofuscinosis neuronal 3 deficient ...
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A cluster of palmitoylated cysteines are essential for aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis
... Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is caused by mutation of the DNAJC5 gene encoding cysteine string protein alpha (CSPα). The disease-causing mutations, which result in ...
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Assessing Disease Severity in Late Infantile Neuronal Ceroid Lipofuscinosis Using Quantitative MR Diffusion Weighted Imaging
... neuronal ceroid lipofuscinosis (LINCL), a form of Batten disease, is a fatal neurodegenerative genetic disorder, diagnosed via DNA testing, that affects approximately 200 children in the United States at ...
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Granulin Knock Out Zebrafish Lack Frontotemporal Lobar Degeneration and Neuronal Ceroid Lipofuscinosis Pathology
... Loss of function mutations in granulin (GRN) are linked to two distinct neurological disor- ders, frontotemporal lobar degeneration (FTLD) and neuronal ceroid lipofuscinosis (NCL). It is so far unknown how ...
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Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis
... BACKGROUND AND PURPOSE: Juvenile neuronal ceroid lipofuscinosis is a progressive neurodegenerative lysosomal storage disease of childhood. It manifests with loss of vision, seizures, and loss of cognitive ...
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Ovine ceroid lipofuscinosis : a thesis presented in partial fulfilment (70%) of the requirements for the degree of Master of Veterinary Science at Massey University
... Granular electron dense inclusion in a macrophage in the rectal wall of a 5 months old normal lamb. These inclusions are encountered in both normal and affected sheep, and carry no significance in the diagnosis of ovine ...
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A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis
... from southern India. The mutation c.A392G introduces an amino acid change of p.Y131C in CTSD. The Y131 lies in the light chain of CTSD (figure, D). The CTSD chain (residues 64–412) contains crucial sites that are required ...
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MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis
... Neuronal ceroid lipofuscinosis (NCL) refers to a heterogeneous group of inherited neurodegenerative disorders characterized by the accumulation of lipo- pigment within the lysosomes of neurons and other ...
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Selective depletion of microglial progranulin in mice is not sufficient to cause neuronal ceroid lipofuscinosis or neuroinflammation
... neuronal ceroid lipofuscinosis (NCL) in the rare case of homozygous-null mutations ...and lipofuscinosis in the thalamus, which spreads to other brain regions and is ultimately followed by extensive ...
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Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR
... The most common type of Krabbe disease is the infantile form , which differs from infantile neuronal ceroid lipofuscinosis and Rett syndrome in both time of onset and clinical findings, [r] ...
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Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis
... neuronal ceroid lipofuscinosis the ultrastruc- tural visualization of storage material, in a distinctive pattern, called fingerprint profiles (FPPs) constitutes a disease ...
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Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders
... Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is a group of genetically distinct lysosomal disorders that mainly affect the central nervous system, resulting in progressive motor and ...
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Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights
... Abstract: The present review is focused on juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) due to a mutation in CLN3. Functional vision impairment occurring around 5–6 years of age is the ...
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Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD
... (A) Pedigree of the recessive adult-onset neuronal ceroid lipofuscinosis (ANCL) Belgian family. The index patient or propositus (case II-2) is indicated by an arrow. Participants whose exomes were sequenced ...
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The retinal pathology of ovine ceroid lipofuscinosis : a thesis presented in fulfilment of the requirement for the degree of Master of Veterinary Science at Massey University
... Zeman et al., (1970) listed optic atrophy, attenuation of the retinal vasculature and macula pigment changes in 11 of their 15 patients classified as having the late infantile form of the disease. These general findings ...
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MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis
... neuronal ceroid lipofuscinosis has not been previously quantified, we could not determine whether our intervention had a beneficial effect on brain ...
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Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD
... (A) Pedigree of the recessive adult-onset neuronal ceroid lipofuscinosis (ANCL) Belgian family. The index patient or propositus (case II-2) is indicated by an arrow. Participants whose exomes were sequenced ...
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Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD
... Citation: van der Zee, J., Marien, P., Crols, R., Van Mossevelde, S., Dillen, L., Perrone, F., Engelborghs, S., Verhoeven, J., D'aes, T., Ceuterick-De Groote, C., Sieben, A., Versijpt, J., Cras, P., Martin, J-J. and Van ...
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