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Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene.
Ophthalmic Genet
June 2000
Department of Ophthalmology, University Hospital, Lund, Sweden.
Purpose: To investigate, using full-field ERG, the retinal function in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN(3) gene.
Methods: Batten disease status of five patients was confirmed by the presence of vacuolated lymphocytes in peripheral blood and the identification of mutations in the Batten disease gene (CLN(3)). Visual acuity, fundus appearance, and full-field ERG were examined in all patients (age 4-19 years).
Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren).
Acta Neuropathol
July 1999
Laboratory of Neuropathology, Institute of Neurological Sciences, University of Siena, Italy.
Muscle biopsy tissue from a patient affected by the juvenile form of neuronal ceroid lipofuscinosis (NCL) was studied immunohistochemically using antibodies to beta-amyloid peptide and amyloid precursor protein. Positive reaction in muscle was specifically localized to autophagic vacuoles and blood vessel walls. Increased acid phosphatase reaction suggested enhanced lysosomal activity.
View Article and Find Full Text PDF[Juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt disease)].
Klin Monbl Augenheilkd
December 1998
Background: The neuronal ceroid-lipofuscinosis (NCL) belongs to progressive neurodegenerative disorders of childhood with both ophthalmologic and neurologic symptoms. In the most common type in Germany, the juvenile type, the ophthalmological examination is essential for an early diagnosis.
Patient: A 5-year-old boy had exhibited a loss of visual acuity, visual field and colour perception in his pre-school age.
Tay-Sachs disease with atypical chronic course and limited brain storage: alpha-locus hexosaminidase genetic compound.
Neurochem Res
November 1995
Department of Psychiatry, UCLA School of Medicine 90024-6967, USA.
A 19-year-old Irish-Jewish male had a slow neurologic regression starting at age 4 1/2 years with stuttering. The chronic course resembled that of Spielmeyer-Vogt (juvenile ceroid-lipofuscinosis) disease. The brain was atrophic with neuronal losses and huge compound inclusions in the remaining neurons.
View Article and Find Full Text PDFNew Spielmeyer-Vogt variant with granular inclusions and early brain atrophy.
Am J Med Genet
June 1995
Department of Pediatrics, UCLA School of Medicine, USA.
Three females in 2 families were originally diagnosed with Spielmeyer-Vogt disease (SVD). The clinical course was different from SVD, with vision well preserved until age 10 years, and learning rather than visual difficulties the marker at the onset. Later, regression was unusually rapid, including global dementia, blindness, aphasia, and finally loss of self-feeding and ambulation between ages 12-18 years.
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