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Neurology. 2005 May 24;64(10):1778-9.

Primary lateral sclerosis as a phenotypic manifestation of familial ALS.

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  • 1Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, GA Utrecht, The Netherlands. f.brugman@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.

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