Skip to main content
Top
Published in: Neurological Sciences 2/2018

01-02-2018 | Brief Communication

Ptosis and bulbar onset: an unusual phenotype of familial ALS?

Authors: Fabiola De Marchi, L. Corrado, E. Bersano, M. F. Sarnelli, V. Solara, S. D’Alfonso, R. Cantello, L. Mazzini

Published in: Neurological Sciences | Issue 2/2018

Login to get access

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of upper and lower motor neurons that usually spare the oculomotor nerves. Here, we describe a case of two siblings with a familial bulbar-onset ALS both with ptosis manifested at the onset of the disease.
Literature
1.
go back to reference Ludolph A, Drory V, Hardiman O et al (2015) A revision of the El Escorial criteria—2015. Amyotroph Lateral Scler Frontotemporal Degener 16(5–6):291–292CrossRefPubMed Ludolph A, Drory V, Hardiman O et al (2015) A revision of the El Escorial criteria—2015. Amyotroph Lateral Scler Frontotemporal Degener 16(5–6):291–292CrossRefPubMed
2.
go back to reference Strong MJ, Grace GM, Freedman M et al (2009) Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 10(3):131–146CrossRefPubMed Strong MJ, Grace GM, Freedman M et al (2009) Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 10(3):131–146CrossRefPubMed
4.
go back to reference Pinto S, de Carvalho M (2008) Amyotrophic lateral sclerosis patients and ocular ptosis. Clin Neurol Neurosurg 110(2):168–170 Epub 2007 Oct 24CrossRefPubMed Pinto S, de Carvalho M (2008) Amyotrophic lateral sclerosis patients and ocular ptosis. Clin Neurol Neurosurg 110(2):168–170 Epub 2007 Oct 24CrossRefPubMed
5.
go back to reference Abbott RJ, Holden D, Currie S (1986) False positive anti-acetylcholine receptor antibodies in motorneurone disease. Lancet 1(8486):906–907CrossRefPubMed Abbott RJ, Holden D, Currie S (1986) False positive anti-acetylcholine receptor antibodies in motorneurone disease. Lancet 1(8486):906–907CrossRefPubMed
6.
go back to reference Okuyama Y1, Mizuno T, Inoue H et al (1997) Amyotrophic lateral sclerosis with anti-acetylcholine receptor antibody. Intern Med 36(4):312–315CrossRefPubMed Okuyama Y1, Mizuno T, Inoue H et al (1997) Amyotrophic lateral sclerosis with anti-acetylcholine receptor antibody. Intern Med 36(4):312–315CrossRefPubMed
7.
go back to reference Finsterer J (2003) Mitochondriopathy mimicking amyotrophic lateral sclerosis. Neurologist 9(1):45–48CrossRefPubMed Finsterer J (2003) Mitochondriopathy mimicking amyotrophic lateral sclerosis. Neurologist 9(1):45–48CrossRefPubMed
9.
go back to reference Turner MR, Goldacre R, Ramagopalan S et al (2013) Autoimmune disease preceding amyotrophic lateral sclerosis: an epidemiologic study. Neurology 81(14):1222–1225CrossRefPubMedPubMedCentral Turner MR, Goldacre R, Ramagopalan S et al (2013) Autoimmune disease preceding amyotrophic lateral sclerosis: an epidemiologic study. Neurology 81(14):1222–1225CrossRefPubMedPubMedCentral
Metadata
Title
Ptosis and bulbar onset: an unusual phenotype of familial ALS?
Authors
Fabiola De Marchi
L. Corrado
E. Bersano
M. F. Sarnelli
V. Solara
S. D’Alfonso
R. Cantello
L. Mazzini
Publication date
01-02-2018
Publisher
Springer Milan
Published in
Neurological Sciences / Issue 2/2018
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-017-3186-0

Other articles of this Issue 2/2018

Neurological Sciences 2/2018 Go to the issue