Search results for "Lipofuscin"

Human NCL Neuropathology

2015

AbstractThe neuronal ceroid lipofuscinoses (NCL) currently encompass fourteen genetically different forms, CLN1 to CLN14, but are all morphologically marked by loss of nerve cells, particularly in the cerebral and cerebellar cortices, and the cerebral and extracerebral formation of lipopigments. These lipopigments show distinct ultrastructural patterns, i.e., granular, curvilinear/rectilinear and fingerprint profiles. They contain−although to a different degree among the different CLN forms−subunit C of ATP synthase, saposins A and D, and beta-amyloid proteins. Extracerebral pathology, apart from lipopigment formation, which provides diagnostic information, is scant or non-existent. The ret…

Retinal ultrastructure of neuronal ceroid-lipofuscinosis in the Dalmatian dog

1985

Ultrastructural studies of the retinae in two NCL-affected Dalmatian dogs revealed ubiquitous accumulation of lipopigments in numerous cell types of the retina, the fine structure of which closely resembled that seen in NCL-affected English setters. Photoreceptors and other retinal cell types were largely intact. These findings show that the retinal involvement in NCL of our Dalmatian dogs is identical to that of NCL-affected English setters. It also shows that in canine NCL a severe retinopathy, regularly encountered in human childhood NCL, does not develop. Thus, the NCL of Dalmatian dogs —and English setters — represents a reliable model to study human NCL, but for human retinopathia pig…

Retina in various animal models of neuronal ceroid-lipofuscinosis

1992

The childhood forms of human neuronal ceroid-lipofuscinosis (NCL) are invariably associated with a severe progressive retinopathy which commences at the photoreceptor level morphologically and proceeds to a final loss of neuronal cells accompanied by severe gliosis. In respective spontaneous animal conditions of NCL, in English setters, Dalmatian dogs, and New Zealand sheep, retinal involvement is not commensurate although the retina does not seem to be completely unaffected. In canine NCL, there might be functional and electro-physiological impairment of retinal cells, but retinal atrophy is not obvious. In ovine NCL, the retina, apart from accumulating NCL-specific lipopigments within neu…

Diagnosis of the neuronal ceroid lipofuscinoses: An update

2006

Abstract For the majority of families affected by one of the neuronal ceroid lipofuscinoses (NCLs), a biochemical and/or genetic diagnosis can be achieved. In an individual case this information not only increases understanding of the condition but also may influence treatment choices and options. The presenting clinical features prompt initial investigation and also guide clinical care. The clinical labels “infantile NCL”, “late infantile NCL” and “juvenile NCL”, therefore remain useful in practice. In unusual or atypical cases ultra-structural analysis of white blood cells or other tissue samples enables planning and prioritisation of biochemical and genetic tests.This review describes cu…

B and T lymphocytes are affected in lysosomal disorders--an immunoelectron microscopic study.

1991

Circulating lymphocytes of four patients with mucopolysaccharidoses II and IIIA, four patients with juvenile neuronal ceroid-lipofuscinosis, one patient each with glycogenosis type II, infantile neuronal ceroid-lipofuscinosis, and Gaucher disease were classified by immunoelectron microscopy as B or T lymphocytes. Disease-specific lysosomal inclusions as well as non-specific lysosomal organelles, especially Gall bodies were identified in B and T lymphocytes. These non-quantitative studies indicate that both B and T lymphocytes participate in the lysosomal storage process.

Spotlight on fundus autofluorescence

2018

Ana M Calvo-Maroto,1 Alejandro Cerviño2 1Department of Ophthalmology, Clínica Universidad de Navarra, University of Navarra, Madrid, Spain; 2Optometry Research Group, Department of Optics and Optometry and Vision Sciences, University of Valencia, Valencia, Spain Abstract: Fundus autofluorescence (FAF) imaging is based on the fluorescence from ocular endogenous fluorophores located in the retinal pigment epithelium and choroid, mainly lipofuscin and melanin. It is a noninvasive technique that provides information about the spatial distribution of lipofuscin/melanin and retinal pigment epithelium health status. An overview about the fluorophores responsible for FAF imaging and t…

Evidence of lipofuscin accumulation in the deep-water red shrimp Aristaeomorpha foliacea (Risso, 1827)

2008

Lipofuscin, a non-degradable, degenerative fluorescent pigment which accumulates in post-mitotic cells, represents a promising method for ageing marine crustaceans. The presence and accumulation of lipofuscin has been studied in the deep-water red shrimp Aristaeomorpha foliacea (Risso, 1827) to assess its use as a tool for ageing larger (i.e., older) specimens and thus improve knowledge of the growth and longevity of this species. Specimens, gathered during experimental trawl surveys carried out in the Strait of Sicily (Mediterranean Sea), were stored directly on-board in 10% buffered formaldehyde solution; their brain was thereafter removed, prepared with various current histological techn…

EVIDENCE OF LIPOFUSCIN ACCUMULATION IN THE DEEP-WATER RED SHRIMP ARISTAEOMORPHA FOLIACEA

2008

Protracted juvenile neuronal ceroid-lipofuscinosis.

1993

Dementia in the Neuronal Ceroidlipofuscinoses

2001

Dementia is defined as a decline in cognitive abilities such as impairment of memory, reasoning, behaviour, attention, motivation and effectiveness. The term usually implies that normal mature mental capability was achieved before, and it is therefore mostly ascribed to adult patients.