title: Primary lateral sclerosis as a phenotypic manifestation of familial ALS.
abstract: 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.
authors.affiliation: Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, GA Utrecht, The Netherlands. f.brugman@neuro.azu.nl
authors.forename: F
authors.initials: F
authors.lastname: Brugman
authors.forename: J H J
authors.initials: JH
authors.lastname: Wokke
authors.forename: J M B
authors.initials: JM
authors.lastname: Vianney de Jong
authors.forename: H
authors.initials: H
authors.lastname: Franssen
authors.forename: C G
authors.initials: CG
authors.lastname: Faber
authors.forename: L H
authors.initials: LH
authors.lastname: Van den Berg
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D001933:Brain Stem / Q000473:pathology / Q000503:physiopathology; D015897:Comorbidity; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D009046:Motor Neurons / Q000473:pathology; D018482:Muscle, Skeletal / Q000294:innervation / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D013116:Spinal Cord / Q000473:pathology / Q000503:physiopathology; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1