Pathology of peripheral nerves in metachromatic leucodystrophy. A comparative study of ten cases

Journal of the Neurological Sciences
J J MartinC Joris

Abstract

Results of qualitative and quantitative studies on 1 to 13 peripheral nerves from 10 cases (6 late infantile, 2 juvenile and 2 adult cases) of metachromatic leucodystrophy (MLD) are reported. Peripheral nerve biopsies are still useful despite the arylsulphatase A assays on leucocytes and cultured fibroblasts, since they provide extremely rapid and reliable diagnostic information. The following points are investigated: (1) are there differences in the severity and characteristics of demyelination according to MLD subtypes; (2) are there major differences in various nerves of one patient; (3) are some inclusions characteristic of a given MLD subtype; (4) is there a direct relationship between demyelination and storage of characteristic inclusions? While question 1 can be answered positively, the three following ones must receive a negative or at best an equivocal answer.

References

Jun 1, 1966·Acta Neuropathologica·J J Bubis, L Adlesberg
Jun 28, 1973·The New England Journal of Medicine·J G LeroyC Navarro
Oct 1, 1966·Journal of Neuropathology and Experimental Neurology·A GrégoireP Dustin
Oct 1, 1962·Journal of Neuropathology and Experimental Neurology·H D WEBSTER

Citations

Dec 1, 1983·Italian Journal of Neurological Sciences·F FenziN Rizzuto
Nov 1, 1982·Journal of the Neurological Sciences·A VercruyssenR Mercelis
Feb 22, 2001·Pediatric Neurology·E M Kaye
May 23, 2015·Annals of Clinical and Translational Neurology·Christine Í DaliChristian Krarup
Jan 1, 1982·Journal of Neurology·J J MartinH Gacoms
Nov 7, 2019·Orphanet Journal of Rare Diseases·Shanice BeerepootNicole I Wolf

Related Concepts

Axon
Arylsulfatase A Deficiency
Microscopy
Electron Microscopy
Myelin
Myelinated Nerve Fiber
Perineurium

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.

Synthetic Genetic Array Analysis

Synthetic genetic arrays allow the systematic examination of genetic interactions. Here is the latest research focusing on synthetic genetic arrays and their analyses.

Congenital Hyperinsulinism

Congenital hyperinsulinism is caused by genetic mutations resulting in excess insulin secretion from beta cells of the pancreas. Here is the latest research.

Neural Activity: Imaging

Imaging of neural activity in vivo has developed rapidly recently with the advancement of fluorescence microscopy, including new applications using miniaturized microscopes (miniscopes). This feed follows the progress in this growing field.

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.

Epigenetic Memory

Epigenetic memory refers to the heritable genetic changes that are not explained by the DNA sequence. Find the latest research on epigenetic memory here.

Cell Atlas of the Human Eye

Constructing a cell atlas of the human eye will require transcriptomic and histologic analysis over the lifespan. This understanding will aid in the study of development and disease. Find the latest research pertaining to the Cell Atlas of the Human Eye here.

Femoral Neoplasms

Femoral Neoplasms are bone tumors that arise in the femur. Discover the latest research on femoral neoplasms 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.