title: Biomarkers of disease in a case of familial lower motor neuron ALS.
abstract: ALS is a fatal disease with variable clinical course. There is no single reliable marker of disease progression. Sufficient records were available to study the case history of four family members with the uncommon G93V SOD1 mutation. Distal lower motor neuron (LMN) involvement occurred in all family members with onset from 30 to 51 years of age, with progression over more than six years. Between 2002 and 2009, we used electrophysiology as a biomarker to study disease progression in one patient, assessing the number of motor units in three nerves from different limbs. The loss of motor units showed an exponential decline with different half-lives in different nerves. Diffusion tractography was compared with a control to assess upper motor neuron (UMN) involvement and showed asymmetric evidence of abnormalities of the corticospinal tracts, providing evidence of central involvement despite the absence of UMN signs.
authors.affiliation: Department of Neurology, Royal Brisbane and Women's Hospital, Queensland, Australia.
authors.forename: Fusun
authors.initials: F
authors.lastname: Baumann
authors.forename: Stephen E
authors.initials: SE
authors.lastname: Rose
authors.forename: Garth A
authors.initials: GA
authors.lastname: Nicholson
authors.forename: Nicole
authors.initials: N
authors.lastname: Hutchinson
authors.forename: Kerstin
authors.initials: K
authors.lastname: Pannek
authors.forename: Anthony
authors.initials: A
authors.lastname: Pettitt
authors.forename: Pamela A
authors.initials: PA
authors.lastname: Mccombe
authors.forename: Robert D
authors.initials: RD
authors.lastname: Henderson
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D015415:Biomarkers / Q000378:metabolism*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000502:physiology*; D009154:Mutation; D009431:Neural Conduction / Q000502:physiology; D011712:Pyramidal Tracts / Q000473:pathology / Q000503:physiopathology; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1
chemical_list: D015415:Biomarkers; C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1