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Biba R. Stanton, MRCP; Daisy Shinhmar, BSc; Martin R. Turner, PhD; Victoria C. Williams, MRCP; Steven C. R. Williams, PhD; Camilla R. V. Blain, MRCP; Vincent P. Giampietro, PhD; Marco Catani, MRCPsych; P. Nigel Leigh, FMedSci; Peter M. Andersen, DMSc; Andrew Simmons, PhD

Arch Neurol. 2009;66(1):109-115.

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.

Author Affiliations: Medical Research Council Centre for Neurodegeneration Research and Department of Clinical Neuroscience (Drs Stanton, Turner, V. C. Williams, S. C. R. Williams, Blain, Leigh, and Simmons), Centre for Neuroimaging Sciences (Ms Shinhmar and Drs S. C. R. Williams and Simmons), National Institute for Health Research Biomedical Research Centre for Mental Health (Drs S. C. R. Williams and Simmons), Brain Image Analysis Unit, Department of Biostatistics and Computing (Dr Giampietro), and Division of Psychological Medicine and Psychiatry (Dr Catani), Institute of Psychiatry, King's College London, London, and Department of Neurology, John Radcliffe Hospital, Oxford (Dr Turner), England; and Department of Neurology, Umeå University Hospital, Umeå, Sweden (Dr Andersen).

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