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Acta Neuropathologica
Published in: Acta Neuropathologica 1/2004

01-07-2004 | Case Report

Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions

Authors: Danielle Seilhean, Junko Takahashi, Khalid Hamid El Hachimi, Hiroto Fujigasaki, Anne-Sophie Lebre, Valérie Biancalana, Alexandra Dürr, François Salachas, Jean Hogenhuis, Hugues de Thé, Jean-Jacques Hauw, Vincent Meininger, Alexis Brice, Charles Duyckaerts

Published in: Acta Neuropathologica | Issue 1/2004

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Abstract

A 46-year-old patient developed amyotrophic lateral sclerosis (ALS) characterized by rapid progression. She needed respiratory assistance after a course of 9 months. She died 4.5 years after onset. Autopsy showed dramatic atrophy of the spinal cord, sparing only the posterior tracts, associated with neuronal loss and astrogliosis in various areas including the anterior horns, motor cortex, striatum, thalamus, and substantia nigra. Ubiquitin immunohistochemistry showed rare skein-like inclusions in the surviving spinal and medullary motor neurons. Eosinophilic inclusions were found in the nuclei of pyramidal neurons in the hippocampus. These inclusions were immunoreactive to antibodies against ubiquitin, promyelocytic leukemia gene product, proteasome, and ataxin-3. They were not immunoreactive to antibodies against tau, cystatin C, neurofilament, alpha-synuclein, SOD-1, and polyglutamine (1C2), and were not stained by ethidium bromide. Similar inclusions were found in the motor cortex. The immunoreactivity of the inclusions was similar to that encountered in diseases associated with CAG repeats, except for the negativity of the immunolabelling with 1C2. At the ultrastructural level, the nuclear inclusions were made of straight filaments (10–12 nm in diameter) arranged at random, reminiscent of the polyglutamine intranuclear hyaline inclusions.
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Metadata
Title
Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions
Authors
Danielle Seilhean
Junko Takahashi
Khalid Hamid El Hachimi
Hiroto Fujigasaki
Anne-Sophie Lebre
Valérie Biancalana
Alexandra Dürr
François Salachas
Jean Hogenhuis
Hugues de Thé
Jean-Jacques Hauw
Vincent Meininger
Alexis Brice
Charles Duyckaerts
Publication date
01-07-2004
Publisher
Springer-Verlag
Published in
Acta Neuropathologica / Issue 1/2004
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI
https://doi.org/10.1007/s00401-004-0855-x

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