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NEUROLOGY 2005;64:1778-1779
© 2005 American Academy of Neurology
Brief Communications

Primary lateral sclerosis as a phenotypic manifestation of familial ALS

F. Brugman, MD, J.H.J. Wokke, MD, PhD, J. M.B. Vianney de Jong, MD, PhD, H. Franssen, MD, PhD, C. G. Faber, MD, PhD and L. H. Van den Berg, MD, PhD

From the Departments of Neurology (Drs. Brugman, Wokke, and Van den Berg) and Clinical Neurophysiology (Dr. Franssen), the Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht; and the Departments of Neurology (Dr. De Jong), Academic Medical Center, Amsterdam; and University Hospital Maastricht (Dr. Faber), Maastricht, the Netherlands.

Address correspondence and reprint requests to Dr. Frans Brugman, Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, G03.228, PO Box 85500, 3508 GA Utrecht, the Netherlands; e-mail: f.brugman{at}neuro.azu.nl

Primary lateral sclerosis (PLS) is a diagnosis of exclusion in patients with progressive spinobulbar spasticity and could be part of the clinical spectrum of ALS. Unlike ALS, which is familial in 5 to 10% of the cases, PLS has been described as a sporadic disorder in adults. The authors report two patients with PLS from unrelated SOD1-negative familial ALS families. These observations provide further evidence that PLS can be linked pathophysiologically to ALS.

Received December 21, 2004. Accepted in final form February 2, 2005.




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F. Brugman, E. Eymard-Pierre, L. H. van den Berg, J.H.J. Wokke, F. Gauthier-Barichard, and O. Boespflug-Tanguy
ADULT-ONSET PRIMARY LATERAL SCLEROSIS IS NOT ASSOCIATED WITH MUTATIONS IN THE ALS2 GENE
Neurology, August 14, 2007; 69(7): 702 - 704.
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