Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C

Virchows Archiv. A, Pathological Anatomy and Histopathology
M EllederJ Vlk

Abstract

The authors present a case of neurovisceral storage disease with the whole of its clinical course confined to adult life (symptoms from 26 to 46 years of age) and marked by mainly neurological symptomatology with dystonia, vertical supranuclear ophthalmoplegia and progressive mental deterioration as the dominant features. From the results of postmortem structural histochemical and chemical analysis the case was diagnosed as Niemann-Pick disease type C. This case, together with sporadic observations reported by other authors, represents a significant shift in our view of the incidence of NPD type C in older age groups.

References

Nov 1, 1978·Annals of Neurology·D S Horoupian, S S Yang
Jul 16, 1975·Journal of Chromatography·J Robert, G Rebel
Dec 31, 1973·Histochemie. Histochemistry. Histochimie·M Elleder, Z Lojda
Nov 1, 1984·The Histochemical Journal·M EllederM Macek
Nov 1, 1983·The Histochemical Journal·M EllederJ Cihula
Jan 1, 1981·Acta Neuropathologica. Supplementum·M Elleder, A Jirásek
Oct 1, 1981·Archives of Ophthalmology·D G CoganJ Barranger
Jan 1, 1980·Virchows Archiv. A, Pathological Anatomy and Histology·M EllederJ Cihula
Apr 1, 1961·Journal of Neurochemistry·A C CROCKER

❮ Previous
Next ❯

Citations

Oct 1, 1984·Journal of the Neurological Sciences·J J MartinM T Vanier
Jan 1, 1992·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·G Dubois, H Tapiero
Nov 26, 2002·Annals of Neurology·Hans H KlünemannWilliam W Pendlebury
Aug 1, 1988·Pathology, Research and Practice·J J Martin, C Ceuterick
Sep 1, 1989·Pathology, Research and Practice·M Elleder
Sep 26, 2006·American Journal of Respiratory and Critical Care Medicine·Ivana V YangDavid A Schwartz
Oct 5, 2018·Orphanet Journal of Rare Diseases·Yann NadjarBénédicte Héron

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.