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BACKGROUND: The basis of heterogeneity in the clinical presentation and rate of progression of amyotrophic lateral sclerosis (ALS) is poorly understood. OBJECTIVES: To use diffusion tensor imaging as a measure of axonal pathologic features in vivo in ALS and to compare a homogeneous form of familial ALS (homozygous D90A SOD1 [superoxide dismutase 1]) with sporadic ALS. DESIGN: Cross-sectional diffusion tensor imaging study. SETTING: Tertiary referral neurology clinic. PATIENTS: Twenty patients with sporadic ALS, 6 patients with homozygous D90A SOD1 ALS, and 21 healthy control subjects. MAIN OUTCOME MEASURE: Fractional anisotropy in cerebral white matter. RESULTS: Patients with homozygous D90A SOD1 ALS showed less extensive pathologic white matter in motor and extramotor pathways compared with patients with sporadic ALS, despite similar disease severity assessed clinically using a standard functional rating scale. Fractional anisotropy correlated with clinical measures of severity and upper motor neuron involvement. CONCLUSION: In vivo diffusion tensor imaging measures demonstrate differences in white matter degeneration between sporadic ALS and a unique familial form of the disease, indicating that genotype influences the distribution of cerebral pathologic features in ALS.

Original publication

DOI

10.1001/archneurol.2008.527

Type

Journal article

Journal

Arch Neurol

Publication Date

01/2009

Volume

66

Pages

109 - 115

Keywords

Adult, Aged, Amyotrophic Lateral Sclerosis, Brain, Brain Mapping, Cross-Sectional Studies, Diagnosis, Differential, Diffusion Magnetic Resonance Imaging, Disease Progression, Efferent Pathways, Female, Genetic Markers, Genetic Predisposition to Disease, Genotype, Humans, Image Processing, Computer-Assisted, Male, Middle Aged, Motor Neurons, Nerve Fibers, Myelinated, Predictive Value of Tests, Superoxide Dismutase, Superoxide Dismutase-1