Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene |
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| Authors: | Østern Rune Fagerheim Toril Ørstavik Kristin Holmøy Trygve Heiberg Arvid Lund-Petersen Inger Strom Tim M Nilssen Øivind Dahl Arve |
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| Affiliation: | 1. iBiMED, Institute of Biomedicine, Department of Medical Sciences, University of Aveiro, Portugal;2. Department of Physiology and Cardiothoracic Surgery, Faculty of Medicine, University of Porto, Portugal;3. Royal Brompton Hospital, Sydney Street, Chelsea, London SW3 6NP, UK;4. QOPNA, Mass Spectrometry Center, Department of Chemistry, University of Aveiro, Portugal;1. Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Australia;2. St Vincent''s Hospital, Melbourne, Victoria, Australia;3. Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin 2, Ireland;4. Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA;5. Deutsches Krebsforschungszentrum, Heidelberg, Germany;1. Dept. Physical Therapy, College of Public Health and Health Professions, McKnight Brain Institute, University of Florida, USA;2. Dept. Neuroscience, College of Medicine, McKnight Brain Institute, University of Florida, USA;3. Dept. of Biomedical Engineering, College of Engineering, University of Miami, USA |
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| Abstract: | Mutant genes associated with Charcot Marie Tooth type 2, distal hereditary motor neuropathy and familial amyotrophic lateral sclerosis may cause overlapping clinical phenotypes. We performed whole genome linkage analysis, haplotype analysis, sequencing and detailed clinical and neurophysiological investigations in a large Norwegian kindred with a condition that clinically had been classified as Charcot Marie Tooth type 2. The mutation c.140A>G, p.His47Arg (alias p.His46Arg or H46R) in the superoxide dismutase 1 gene (SOD1) segregated with the disease. The patients present a hereditary motor neuropathy-like clinical picture and long survival (mean 29years). To our knowledge, this is the first extensive report describing a large non-Japanese kindred. The prognostic implications of the condition seen in this family have little in common with what is normally associated with sporadic amyotrophic lateral sclerosis and illustrates the complexity of the genetic etiology of lower motor neuron disease. |
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