Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)
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DOI: 10.1136/bjo-2022-321260
Abstract: Background/aims Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative, blinding lysosomal storage disorder. The purpose of the current study was to characterise the progression of CLN2-associated retinal degeneration in patients under intraventricular enzyme… read more here.
Keywords: ceroid lipofuscinosis; degeneration; retinal degeneration; late infantile ... See more keywords
Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers
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DOI: 10.1186/s13023-019-1060-2
Abstract: Background and methodsMetachromatic leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease caused by deficient activity of arylsulfatase A. Neurological involvement results in severe disability and premature death, but understanding of the natural history… read more here.
Keywords: juvenile mld; disease; natural history; late infantile ... See more keywords
Pearls & Oy-sters: Tumefactive Demyelinating Lesions With MOG Antibodies Preceding Late Infantile Metachromatic Leukodystrophy
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DOI: 10.1212/wnl.0000000000201230
Abstract: The development of acute neurologic dysfunction associated with tumefactive demyelinating lesions and mild diffuse involvement of the corpus callosum has been described in children as a sentinel event that may allow diagnosis of juvenile metachromatic… read more here.
Keywords: pearls sters; late infantile; metachromatic leukodystrophy; tumefactive demyelinating ... See more keywords
Two cases of variant late infantile ceroid lipofuscinosis in Jordan
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DOI: 10.12998/wjcc.v7.i2.203
Abstract: BACKGROUND Late infantile ceroid lipofuscinosis is a rare neurodegenerative disorder that appears between the ages of 2 and 4 years and is difficult to diagnose. In this report we present two sisters with this condition,… read more here.
Keywords: infantile ceroid; test; variant late; ceroid lipofuscinosis ... See more keywords
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis
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DOI: 10.3389/fgene.2019.00370
Abstract: Neuronal Ceroid Lipofuscinoses (NCLs) are progressive degenerative diseases mainly affect brain and retina. They are characterized by accumulation of autofluorescent storage material, mitochondrial ATPase subunit C, or sphingolipid activator proteins A and D in lysosomes… read more here.
Keywords: analysis; neuronal ceroid; late infantile; generation sequencing ... See more keywords
[Galactosialidosis: a new "de novo" mutation in CTSA gene in a patient with late infantile galactosialidosis].
Sign Up to like & getrecommendations! Published in 2018 at "Archivos argentinos de pediatria"
DOI: 10.5546/aap.2018.e88
Abstract: Galactosialidosis (OMIM #256540) is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene, which encodes the protective protein cathepsin A. The loss of function of this protein causes a secondarily deficiency… read more here.
Keywords: galactosialidosis new; galactosialidosis; late infantile; ctsa gene ... See more keywords