Literature DB >> 29134445

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

Fabiola De Marchi1, L Corrado2, E Bersano3, M F Sarnelli4, V Solara4, S D'Alfonso2, R Cantello3, L Mazzini3.   

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.

Entities:  

Keywords:  Amyotrophic lateral sclerosis; Familial cases; Motor neuron disease; Ptosis

Mesh：

Year:  2017        PMID： 29134445     DOI： 10.1007/s10072-017-3186-0

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


  9 in total

1.  A revision of the El Escorial criteria - 2015.

Authors:  Albert Ludolph; Vivian Drory; Orla Hardiman; Imaharu Nakano; John Ravits; Wim Robberecht; Jeremy Shefner
Journal:  Amyotroph Lateral Scler Frontotemporal Degener       Date:  2015-06-29       Impact factor: 4.092

2.  Amyotrophic lateral sclerosis with anti-acetylcholine receptor antibody.

Authors:  Y Okuyama; T Mizuno; H Inoue; K Kimoto
Journal:  Intern Med       Date:  1997-04       Impact factor: 1.271

3.  False positive anti-acetylcholine receptor antibodies in motorneurone disease.

Authors:  R J Abbott; D Holden; S Currie
Journal:  Lancet       Date:  1986-04-19       Impact factor: 79.321

4.  Amyotrophic lateral sclerosis and myasthenia gravis: association or chance occurrence?

Authors:  Silvia de Pasqua; Francesco Cavallieri; Roberto D'Angelo; Fabrizio Salvi; Nicola Fini; Roberto D'Alessandro; Rita Rinaldi; Antonio Fasano; Jessica Mandrioli
Journal:  Neurol Sci       Date:  2016-12-02       Impact factor: 3.307

5.  Amyotrophic lateral sclerosis patients and ocular ptosis.

Authors:  Susana Pinto; Mamede de Carvalho
Journal:  Clin Neurol Neurosurg       Date:  2007-10-24       Impact factor: 1.876

6.  Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis.

Authors:  Michael J Strong; Gloria M Grace; Morris Freedman; Cathy Lomen-Hoerth; Susan Woolley; Laura H Goldstein; Jennifer Murphy; Christen Shoesmith; Jeffery Rosenfeld; P Nigel Leigh; Lucie Bruijn; Paul Ince; Denise Figlewicz
Journal:  Amyotroph Lateral Scler       Date:  2009-06

7.  Mitochondriopathy mimicking amyotrophic lateral sclerosis.

Authors:  J Finsterer
Journal:  Neurologist       Date:  2003-01       Impact factor: 1.398

8.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

9.  Autoimmune disease preceding amyotrophic lateral sclerosis: an epidemiologic study.

Authors:  Martin R Turner; Raph Goldacre; Sreeram Ramagopalan; Kevin Talbot; Michael J Goldacre
Journal:  Neurology       Date:  2013-08-14       Impact factor: 9.910
  9 in total

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