title: Respiratory onset in an ALS family with L144F SOD1 mutation.
abstract: Familial amyotrophic lateral sclerosis (FALS) cases linked to SOD1 mutations may sometimes present with unusual clinical features such as pure lower motor neuron involvement or sensory signs. The authors describe a FALS pedigree with the L144F SOD1 mutation in which all cases had respiratory involvement as a first symptom. Although atypical clinical features are not rare in ALS families, this is the first pedigree with respiratory-onset in three affected members. This unusual presentation led to delayed diagnosis in the proband and highlights the fact that respiratory-onset can occur in familial ALS cases carrying SOD1 mutation.
authors.affiliation: Centre SLA, Service de Neurologie, CHU Bretonneau, Tours, France.
authors.forename: P
authors.initials: P
authors.lastname: Corcia
authors.forename: P
authors.initials: P
authors.lastname: Petiot
authors.forename: Z
authors.initials: Z
authors.lastname: Stevic
authors.forename: P
authors.initials: P
authors.lastname: Vourc'h
authors.forename: R
authors.initials: R
authors.lastname: Morales
authors.forename: P H
authors.initials: PH
authors.lastname: Gordon
authors.forename: N
authors.initials: N
authors.lastname: Pageot
authors.forename: C
authors.initials: C
authors.lastname: Andres
authors.forename: W
authors.initials: W
authors.lastname: Camu
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000503:physiopathology*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004417:Dyspnea / Q000209:etiology; D005221:Fatigue / Q000209:etiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D012132:Respiratory Muscles / Q000503:physiopathology; D012140:Respiratory Tract Diseases / Q000209:etiology* / Q000235:genetics*; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D055815:Young Adult
chemical_list: C000606290:SOD1 protein, human; D004247:DNA; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1