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Respiratory onset in an ALS family with L144F SOD1 mutation
  1. P Corcia1,
  2. P Petiot2,
  3. Z Stevic3,
  4. P Vourc'h4,
  5. R Morales5,
  6. P H Gordon6,
  7. N Pageot5,
  8. C Andres4,
  9. W Camu5
  1. 1Centre SLA, Service de Neurologie, CHU Bretonneau, Tours, France
  2. 2Service d'Explorations Neurologiques, Hôpital de la Croix Rousse, CHU de Lyon, Lyon, France
  3. 3Institute of Neurology, Clinical Center of Serbia, University of Belgrade, Belgrade, Serbia
  4. 4Laboratoire de Biochimie et Biologie Moléculaire, INSERM U930, CHU Bretonneau, Tours, France
  5. 5Centre SLA, CHU Gui de Chauliac, Université Montpellier 1, Montpellier, France
  6. 6Northern Navajo Medical Center, Shiprock, New Mexico, USA
  1. Correspondence to Dr W Camu, Clinique du Motoneurone, CHU Gui de Chauliac, Montpellier 34295, Cedex 5, France; w-camu{at}chu-montpellier.fr

Abstract

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. The authors 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.

  • Familial ALS-SOD1-respiratory onset
  • genetics
  • motor neuron disease

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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