Respiratory onset in an ALS family with L144F SOD1 mutation

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 82; no. 7; pp. 747 - 749
• Main Authors: Corcia, P, Petiot, P, Stevic, Z, Vourc'h, P, Morales, R, Gordon, P H, Pageot, N, Andres, C, Camu, W
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.07.2011; BMJ Publishing Group; BMJ Publishing Group LTD
• Subjects: Adult; Aged; Amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis - genetics; Amyotrophic Lateral Sclerosis - physiopathology; Biological and medical sciences; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Denervation; DNA - genetics; DNA Mutational Analysis; Dyspnea; Dyspnea - etiology; Electromyography; Familial ALS-SOD1-respiratory onset; Fatigue - etiology; Female; genetics; Humans; Male; Medical sciences; Middle Aged; motor neuron disease; Mutation; Mutation - genetics; Mutation, Missense - genetics; Neurology; Pedigree; Respiratory Muscles - physiopathology; Respiratory Tract Diseases - etiology; Respiratory Tract Diseases - genetics; Superoxide Dismutase - genetics; Superoxide Dismutase-1; Ventilation; Young Adult; Serbia; Italy; Romania; Nervous system diseases; Mutation
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/jnnp.2009.197558

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.