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Biomarkers of disease in a case of familial lower motor neuron ALS
- Source :
- Amyotrophic Lateral Sclerosis. 11:486-489
- Publication Year :
- 2010
- Publisher :
- Informa UK Limited, 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
Male
Pathology
medicine.medical_specialty
DNA Mutational Analysis
SOD1
Neural Conduction
Pyramidal Tracts
Disease
Lower motor neuron
Superoxide Dismutase-1
medicine
Humans
Amyotrophic lateral sclerosis
Motor Neurons
Superoxide Dismutase
Upper motor neuron
business.industry
Amyotrophic Lateral Sclerosis
Disease progression
Clinical course
General Medicine
Middle Aged
medicine.disease
medicine.anatomical_structure
Neurology
Mutation
Disease Progression
Biomarker (medicine)
Female
Neurology (clinical)
business
Biomarkers
Subjects
Details
- ISSN :
- 1471180X and 17482968
- Volume :
- 11
- Database :
- OpenAIRE
- Journal :
- Amyotrophic Lateral Sclerosis
- Accession number :
- edsair.doi.dedup.....6ec082b9d2dc11a3eabe002bba844f0e