Diffusion Tensor Imaging in Sporadic and Familial (D90A SOD1) Forms of Amyotrophic Lateral Sclerosis

TY - JOUR

T1 - Diffusion Tensor Imaging in Sporadic and Familial (D90A SOD1) Forms of Amyotrophic Lateral Sclerosis

AU - Stanton, Biba R.

AU - Shinhmar, Daisy

AU - Turner, Martin R.

AU - Williams, Victoria C.

AU - Williams, Steven C. R.

AU - Blain, Camilla R. V.

AU - Giampietro, Vincent

AU - Catani, Marco

AU - Leigh, P. Nigel

AU - Andersen, Peter M.

AU - Simmons, Andrew

PY - 2009/1

Y1 - 2009/1

N2 - 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.

AB - 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.

U2 - 10.1001/archneurol.2008.527

DO - 10.1001/archneurol.2008.527

M3 - Article

VL - 66

SP - 109

EP - 115

JO - Archives of neurology

JF - Archives of neurology

IS - 1

ER -