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Article Dans Une Revue Journal of Neurology, Neurosurgery and Psychiatry Année : 2010

Respiratory onset in an ALS family with L144F SOD1mutation

Résumé

Familial amyotrophic lateral sclerosis (FALS) cases linked to SOD1 mutations may sometimes present with unusual clinical features such as pure lower motor neuron involvement or sensory signs. We describe a FALS pedigree with the L144F SOD1 mutation in which all cases had respiratory involvement as a first symptom. Although atypical clinical features are not rare in ALS families, this is the first pedigree with respiratory-onset in three affected members. This unusual presentation led to delayed diagnosis in the proband and highlights the fact that respiratory-onset can occur in familial ALS cases carrying SOD1 mutation.
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Dates et versions

hal-00600748 , version 1 (16-06-2011)

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Philippe Corcia, Philippe Petiot, Zorica Stevic, Patrick Vourc'H, Raoul Morales, et al.. Respiratory onset in an ALS family with L144F SOD1mutation. Journal of Neurology, Neurosurgery and Psychiatry, 2010, 82 (7), pp.747. ⟨10.1136/jnnp.2009.197558⟩. ⟨hal-00600748⟩
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