Degenerative changes in unmyelinated nerve fibers in late-infantile neuronal ceroidlipofuscinosis

Late-infantile neuronal ceroidlipofuscinosis (LINCL) is an autosomal recessive disease involving rapidly progressive myoclonic epilepsy, mental and motor regression and progressive visual failure. Neurodegeneration and deposition of fluorescent lipid bodies are the neuropathological hallmarks of thi...

Full description

Saved in:
Bibliographic Details
Published in:Acta neuropathologica 1998-02, Vol.95 (2), p.175-183
Main Authors: Schuelke, M., Cervós-Navarro, Jorge
Format: Article
Language:English
Subjects:
Aging
Biopsy
Diabetes mellitus
Epilepsy
Lipid bodies
Neurodegeneration
Sensorimotor integration
Siblings
Sural nerve
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Late-infantile neuronal ceroidlipofuscinosis (LINCL) is an autosomal recessive disease involving rapidly progressive myoclonic epilepsy, mental and motor regression and progressive visual failure. Neurodegeneration and deposition of fluorescent lipid bodies are the neuropathological hallmarks of this disease. In this study we examined the conjunctival biopsy (CB) specimens of three siblings and two unrelated patients with LINCL. At the time of examination each of the three siblings presented a different stage of the disease. The unrelated patients were examined at an advanced stage of LINCL. The findings in these patients are compared to the normal data derived from analysis of seven age-matched 9- to 41-month-old healthy subjects. In young children with LINCL the distribution of unmyelinated fiber (UF) diameter is unimodal. In advanced disease there is a bimodal distribution and a significant reduction of UF density and of relative UF area. As the disease progresses, degenerative changes can be demonstrated: at first a diffuse UF swelling, followed by a decrease of UF density and finally the increase of regenerates (microaxons). These changes, however, seem to reflect an unspecific reaction to nerve injury. They can be demonstrated in a variety of conditions of different pathophysiology such as diabetes mellitus, crush injury and normal aging. This is the first morphometric study of CB specimens. Normal data of UF distribution (unimodal, mode at 0.4–0.6 μm) and UF density (1447 760 ± 19 347/mm2) in CB specimens correspond well to age-specific data published on the sural nerve.
ISSN:0001-6322
1432-0533
DOI:10.1007/s004010050784