Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “AMAUROTIC IDIOCY”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMed1981

[Chance and discovery in research on the cause of infantile amaurotic idiocy].

Infantile amaurotic idiocy-the classical type known as "Tay-Sachs disease" -is the consequence of the accumulation of a ganglioside and a closely related derivation in the human brain. The accumulation of both substances is due to a genetically induced deficiency of their common catabolic enzyme system. K. Sandhoff discovered three enzymic variants of the disease, which, taken together, did not reveal any apparent causal relationship between enzymic defect and substrate accumulation. The role of chance and discovery in finding the three variants as well as in the elucidation of their causes is described.

Acetylglucosaminidase↗
PubMed1974

Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses).

Skin biopsies have been performed in five cases belonging to the group of neuronal ceroid-lipofuscinoses (two cases of late infantile amaurotic idiocy with curvilinear cytosomes and three cases of juvenile amaurotic idiocy) and in twelve controls. In the late infantile amaurotic idiocy, cytosomes with curvilinear profiles were easily discovered in the epithelial cells and in the various skin appendages. A clinical diagnosis can therefore be readily supported by an innocuous and repeatable procedure. In juvenile amaurotic idiocy, pleiomorphic cytosomes with prevalent curvilinear profiles can be found in the skin appendages; they are smaller, less abundant and a more careful search is necessary to discover them.

Appendix↗
PubMed1976

Ultrastructural study of so-called curvilinear bodies and fingerprint structures in lymphocytes in late-infantile amaurotic idiocy.

Peripheral lymphocytes of 6 patients with late-infantile amaurotic idiocy were examined with the electron microscope for the occurrence of curvilinear bodies and fingerprint structures. In 3 of the patients predominantly curvilinear bodies were found; in 1 case they contained some fingerprint profiles. In the remaining 3 patients curvilinear bodies were relatively scarce, whereas fingerprint structures prevailed. Moreover, pleomorphic bodies with rectilinear profiles and parallel tubular inclusion bodies were present. No lymphocytes with vacuoles were observed in any of the patients. The sural nerve biopsies of all patients revealed curvilinear bodies. This tissue consequently may be considered to give more reliable information in comparison with the lymphocyte. The likelihood of transition of one type inclusion body into another, the specificity of the curvilinear body and, to our mind, the rigid classification of the amaurotic idiocy into a curvilinear and a fingerprint type, are discussed.

Child↗
PubMed1975

[The so-called amaurotic idiocies. Clinical, morphological and biochemical findings as a basis for modern classification].

First of all seven of our own thoroughly investigated cases of so-called amaurotic idiocies are presented, they are two infantile, two juvenile, two late infantile one, as well as one adult case. The two infantile cases represent the typ of a GM2-gangliosidosis: with cerebral symptoms and cherry-red spot in the macula they correspond clinically to the typical picture of Tay-Sachs disease. Lightmicroscopically they show neuronal storage, electronmicroscopically a deposition of "membranous cytoplasmic bodies" and biochemically a strong increase in ganglioside GM2. The two juvenile cases correspond in their symptoms and findings to the so-called ceroid-lipofuscinoses or "Myoclonic variant of amaurotic idiocy", respectively. Clinically most remarkable is the deterioration of vision caused by retinitis-pigmentosa-like changes of the fundus, which sets in at the beginning of the disease and precedes the cerebral symptoms by years. The extinguished electroretinogramm corresponds in the histological retina findings to a severe lesion of the layer of rods and cones in the sense of a tapeto-retinal degeneration. Neuropathologically finegranular, Sudan-Black-B- and PAS-positive material is mainly but not exclusively stored in the neurons. The electronmicroscope shows them to be lipofuscin-like inclusions, as well as "curvilinear" or "fingerprint-bodies". Depositions are also to be found in astrocytes and in the cells of the vascular walls. The ganglioside pattern is normal in the brain tissue of the biochemically investigated case. Of the two late infantile cases the first represents a GM2-gangliosidosis, the second one corresponds to the ceroid-lipofuscinosis. The adult patient, who suffered from an ill-defined psychiatric disease and died at the age of 51 presents a diagnostically problematic case, showing a relatively slight, regionally rather differently accentuated intraneuronal storage of granular material and biochemically a slight increase in ganglioside GM2. On discussing our own findings and commenting on the relevant literature various aspects of amaurotic idiocies are considered, such as genetics, neuropsychiatry, ophthalmology, pathomorphology and biochemistry. In this respect special attention is paid to the pathomorphological substrate documented, as localization, degree and kind of tissue changes determine the clinical picture. This is also the case for the correlation between the findings of the different fields, so e.g. concerning the ophthalmological findings it is shown, that in gangliosidoses with preserved ERG histologically a storage in the nerve cells of the ganglion cell-layer only is to be found, where as the ceroid-lipofuscinoses with early onset of deterioration of vision and extinguished ERG in the histological picture of the retina show an additional severe lesion of the layer of rods and cones...

Adolescent↗
PubMed1977

Ultrastructural study of the vacuoles in the peripheral lymphocytes in juvenile amaurotic idiocy. Juvenile form of generalized ceroid lipofuscinosis.

Lymphocytes of the peripheral blood of 31 patients with juvenile amaurotic idiocy (juvenile form of ceroid lipofuscinosis) were examined with the electron microscope. In all cases, intracytoplasmic clear vacuoles were present, containing round hollow, fingerprint and highly electron dense structures. The combination of these structures, not necessarily in one and the same vacuole, was considered to be highly indicative for the diagnosis of juvenile amaurotic idiocy. In addition to these three structures, parallel tubular inclusion bodies, rectilinear profiles and rod-shaped structures were found but in a number of the cases. The parallel tubular inclusion bodies were not regarded as having any diagnostic significance.

Adolescent↗
PubMed1975

Multilamellar cytosomes in a particular form of late-infantile amaurotic idiocy.

There is a particular form of late-infantile amaurotic idiocy in which no clear chemical-pathological or unique enzyme abnormalities have been identified to date. A distinctive morphological feature has been recognized on electron microscopical examination of tissues from these patients, which has been descriptively labeled with various terms, including "multilamellar cytosomes" (MLC). Illustrations of MLC in a patient with this late-infantile form of cerebroretinal degeneration show their reactivity with the periodic acid-silver methenamine reaction for glycoproteins. The MLC are shown to be morphologically identical in cerebral tissue obtained at biopsy, in the same tissue obtained three years later at autopsy, and in skeletal muscle.

Brain↗
PubMed1984

Hypertrophic cardiomyopathy in combination with juvenile amaurotic idiocy. Chance or fundamentally related findings?

Hypertrophic cardiomyopathy and juvenile amaurotic idiocy (one of the ceroid lipofuscinoses ) were diagnosed in a 29 year old man. This combined finding may be one of pure coincidence, but hypertrophic cardiomyopathy like changes of the myocardium are known to occur in Friedreich's ataxia and lentiginosis . The occurrence may, therefore, indicate some fundamental interrelation.

Adult↗
PubMedDate not supplied

Congenital amaurotic idiocy--a pathological, histochemical, biochemical and ultrastructural study.

A case of congenital amaurotic idiocy, a subgroup of the neurovisceral lipidoses, is described. This is a rare condition of which only five cases have been reported previously. The brain was small and firm with marked neuronal loss and gliosis. Granular material with histochemical properties of the ceroid-lipofuscin group of lipopigments was found deposited within astrocytes, macrophages and residual brain stem neurons. Cells of the mononuclear phagocyte system within the liver, spleen, thymus and lungs contained similar material. Ultrastructurally this substance appeared as intracytoplasmic membranous and granular deposits within limiting membranes, and biochemical analysis of formalin-fixed tissue did not identify a specific material. Comparison is made with the Batten group of disorders.

Astrocytes↗
PubMed1981

Cardiac involvement in juvenile amaurotic idiocy--a specific heart muscle disorder. Histological findings in 13 autopsied patients.

Juvenile amaurotic idiocy (JAI) is a rare disorder of autosomal recessive inheritance. It belongs to the so called ceroid lipofuscinoses and the central nervous system is the largest organ. Only very few reports refer to the accumulation of lipopigment in the heart of JAI patients. This study describes the morphology of the heart from all 13 patients with JAI in Denmark who died within a seven year period; electrocardiographic findings are related to structural changes. All compartments of the heart were involved, including the conduction system. Not only very substantial deposition of lipopigment was found in the myocytes, but we have also observed striking amounts of calcium and cholesterol compounds indicating a restrictive type of heart muscle disorder. These structural changes are uniform from case to case. Because of the nature of the disease only rather poor information of the cardiac state is available in JAI patients. 11 patients showed some cardiac enlargement. In 6 patients abnormal P-waves were recorded in the ECG suggesting increased atrial and ventricular diastolic pressure. 2 patients had bradycardia, probably due to sinus node involvement, and one patient developed complete right bundle branch block. However, in the 4 patients in whom the cardiac conduction system could be examined histologically no evidence of disturbance of cardiac impulse formation and conduction was seen in the few standard ECG strips available in spite of extensive deposition of abnormal material throughout the conduction system. There seems to be a discrepancy between the relatively minor functional disturbances observed and the heavy morphological changes of the entire heart. This aspect, however, may well be altered by an intensified clinical observation and examination of JAI patients.

Adolescent↗
PubMed1977

Atypical GM1 ganglioside accumulation in a case of juvenile amaurotic idiocy.

The brain and liver from a 7-year-old Japanese girl with juvenile amaurotic idiocy were examined neuropathologically and biochemically. Visceromegaly and skeletal abnormalities were absent. Nerve cells in the central nervous system were swollen and contained fine fat granules. Electronmicroscopically, there were large numbers of irregular bodies in the perikarya and these corresponded to the curvilinear and membranous cytoplasmic bodies. Lipid analysis of the brain revealed that GM1 ganglioside was increased in the parietal and occipital areas, while the frontal lobe showed a normal ganglioside pattern. N-Acetyl neuraminic acid (NANA) content in all areas was not elevated. Determinations of beta-galactosidase activity were within normal ranges. The liver had no accumulation of GM1 ganglioside and showed a normal beta-galactosidase activity. These unusual findings in GM1 gangliosidosis were discussed.

Brain↗
PubMed1978

Juvenile amaurotic idiocy (neuronal ceroid lipofuscinosis) and lymphocyte fingerprint profiles.

Lymphocytes from 3 children with a form of juvenile amaurotic idiocy (characterized by retinal blindness, progressive dementia, and extrapyramidal motor disturbance) were studied by electron microscopy. Numerous fingerprint profiles (FP) were found in vacuolated lymphocytes from all 3 patients and an asymptomatic younger sibling of 1 patient who subsequently became symptomatic. We propose that the combination of this clinical picture and vacuolated lymphocytes with FP is sufficiently distinctive for clinical and research purposes until the biochemical defect is discovered. Wider utilization of ultrastructural study of lymphocytes should increase the number of children diagnosed and allow detection of asymptomatic patients.

Adolescent↗
PubMed1970

Glycolipid abnormalities in a myoclonic variant of late infantile amaurotic idiocy.

Glycolipids were isolated from the brain of a patient with a myoclonic variant of late infantile amaurotic idiocy. There was an abnormal glycolipid pattern in gray and white matter. The observed high concentration of gangliosides was due to a uniform accumulation of all four major gangliosides and was not limited to one species such as ganglioside A(1), as in Tay-Sachs disease, or ganglioside A(2), as in gangliosidosis-Gm1. Two additional stored substances were identified as ceramide lactoside and ceramide tetrahexoside. Partial and total hydrolysis of these ceramide hexosides revealed that their ceramide moiety is identical with the ceramide portion of gangliosides. The sequence of hexoses in the carbohydrate chain of the ceramide dihexoside and ceramide tetrahexoside further suggests a metabolic and chemical relation to gangliosides. Some implications of these findings for the theories of the metabolic defects in gangliosidoses are discussed.

Brain↗