Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion

Elizabeth Coon, Jasper R. Daube, Mariely Dejesus-Hernandez, Anahita Adeli, Rodolfo Savica, Joseph E Parisi, Dennis W Dickson, Keith Anthony Josephs, Matthew C. Baker, Kris A. Johnson, Robert J. Ivnik, Ronald Carl Petersen, David S Knopman, Kevin B. Boylan, Rosa V Rademakers, Bradley F Boeve

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Our objective was to characterize the motor neuron disease features within a large c9FTD/ALS kindred. We analyzed clinical, electrophysiologic and neuropathologic data in a c9FTD/ALS kindred of Scandinavian ancestry. Results showed that of six family members affected, three had only ALS, two had FTD and one had FTD and ALS. Each patient with motor neuron disease had a different clinical presentation: one patient had only bulbar symptoms, one had bulbar and limb involvement, one had limb symptoms, and one had primarily upper motor neuron disease. Later in the course of disease, all ALS patients developed bulbar involvement and died from respiratory causes. Survival was uniformly short (two to five years). Electrophysiologic studies recorded progressive lower motor neuron dysfunction except in the patient with predominantly upper motor neuron features. In conclusion, this kindred demonstrates that the presentation of ALS within c9FTD/ALS families may vary considerably and electrophysiologic findings reflect this heterogeneity.

Original languageEnglish (US)
Pages (from-to)132-137
Number of pages6
JournalAmyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Volume14
Issue number2
DOIs
StatePublished - Mar 2013

Fingerprint

Amyotrophic Lateral Sclerosis
Motor Neuron Disease
Motor Neurons
Extremities
Survival

Keywords

  • Amyotrophic lateral sclerosis
  • Frontotemporal dementia
  • Primary lateral sclerosis

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion. / Coon, Elizabeth; Daube, Jasper R.; Dejesus-Hernandez, Mariely; Adeli, Anahita; Savica, Rodolfo; Parisi, Joseph E; Dickson, Dennis W; Josephs, Keith Anthony; Baker, Matthew C.; Johnson, Kris A.; Ivnik, Robert J.; Petersen, Ronald Carl; Knopman, David S; Boylan, Kevin B.; Rademakers, Rosa V; Boeve, Bradley F.

In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 14, No. 2, 03.2013, p. 132-137.

Research output: Contribution to journalArticle

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