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© 1994 Oxford University Press

OTHER

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis

Denise A. Figlewicz*,, Aldis Krizus, Maria G. Martinoli, Vincent Meininger1, Michel Dib1, Guy A. Rouleau and Jean-Pierre Julien

Centre for Research in Neuroscience, McGill University and Department of Neurology, Montreal General Hospital 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada 1Centre SLA, Centre de Diagnostic Hotel Dieu de Paris, 1 rue de la Cite, 75004 Paris, France

*To whom correspondence should be addressed at present address: Department of Neurology, University of Rochester Medical Center, 601 Elmwood Avenue/Box 673, Rochester, NY 14642, USA

Received March 29, 1994; Revised July 22, 1994; Accepted July 22, 1994

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder primarily affecting motor neurons. The etiology of the majority of cases remains unknown. Recent findings from several laboratories suggest a role for neurofilaments in the development of motor neuron disorders. The C-terminal region of the human neurofilament heavy subunit (NEFH) contains a unique functional domain consisting of 43 repeat motifs of the amino acids Lys-Ser-Pro (KSP). This C-terminal region of NEFH forms the sidearm projections which cross-link the neurofilaments. Previously, we have demonstrated polymorphism in the C-terminal region of the human NEFH: an allelic variant of a slightly larger molecular size, containing an additional KSP phosphorylation motif. Novel mutations in this region were found in five ALS patients. We propose that changes in the KSP-repeat domain may affect the cross-linking properties of the heavy neurofilament subunit and perhaps contribute to the development of neurofilamentous swellings in motor neurons, a hallmark of ALS.


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