Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation

Glenn Lopate, Robert H. Baloh, Muhammad T. Al-Lozi, Timothy M. Miller, J. Americo Fernandes Filho, Oliver Ni, Alison Leston, Julaine Florence, Jeanine Schierbecker, Peggy Allred

Research output: Contribution to journalArticlepeer-review

25 Scopus citations

Abstract

We describe a large family with amyotrophic lateral sclerosis (ALS) caused by an I113T mutation in superoxide dismuatse type 1 (SOD1). The proband developed symptoms typical for ALS at age 39 years and is still walking five years later. Marked phenotypic variability is manifested by her mother with onset of gait difficulty and decision-making problems at age 67 years and a five-year course marked by progressive mild upper motor neuron weakness, frontotemporal dementia and chorea. An aunt's initial symptoms included foot numbness and an uncle with the mutation is asymptomatic. Penetrance is only 50% at age 60 years and 88% at age 80 years with an 86-year-old woman harboring the mutation and having a normal neurologic examination. This family highlights the extreme variability in age of onset, clinical manifestations, disease progression and penetrance due to the I113T SOD1 mutation.

Original languageEnglish
Pages (from-to)232-236
Number of pages5
JournalAmyotrophic Lateral Sclerosis
Volume11
Issue number1-2
DOIs
StatePublished - Mar 11 2010

Keywords

  • Chorea
  • Frontotemporal dementia
  • Phenotypic variation
  • Reduced penetrance
  • Superoxide dismutase-1

Fingerprint Dive into the research topics of 'Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation'. Together they form a unique fingerprint.

Cite this