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Biomarkers of disease in a case of familial lower motor neuron ALS.
- Source :
-
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases [Amyotroph Lateral Scler] 2010 Oct; Vol. 11 (5), pp. 486-9. - Publication Year :
- 2010
-
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.
- Subjects :
- Adult
DNA Mutational Analysis
Disease Progression
Female
Humans
Male
Middle Aged
Mutation
Neural Conduction physiology
Pyramidal Tracts pathology
Pyramidal Tracts physiopathology
Superoxide Dismutase genetics
Superoxide Dismutase-1
Amyotrophic Lateral Sclerosis genetics
Amyotrophic Lateral Sclerosis pathology
Amyotrophic Lateral Sclerosis physiopathology
Biomarkers metabolism
Motor Neurons physiology
Subjects
Details
- Language :
- English
- ISSN :
- 1471-180X
- Volume :
- 11
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
- Publication Type :
- Academic Journal
- Accession number :
- 20429685
- Full Text :
- https://doi.org/10.3109/17482961003774428