Diffusion tensor imaging in sporadic and familial (D90A SOD1) forms of amyotrophic lateral sclerosis.
BACKGROUND
The basis of heterogeneity in the clinical presentation and rate of progression of amyotrophic lateral sclerosis (ALS) is poorly understood.


OBJECTIVE
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.


METHODS
Cross-sectional diffusion tensor imaging study.


METHODS
Tertiary referral neurology clinic.


METHODS
Twenty patients with sporadic ALS, 6 patients with homozygous D90A SOD1 ALS, and 21 healthy control subjects.


METHODS
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.


CONCLUSIONS
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.
Stanton
Biba R
BR
Medical Research Council Centre for Neurodegeneration Research and Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London SE5 8AF, England.
Shinhmar
Daisy
D
Turner
Martin R
MR
Williams
Victoria C
VC
Williams
Steven C R
SC
Blain
Camilla R V
CR
Giampietro
Vincent P
VP
Catani
Marco
M
Leigh
P Nigel
PN
Andersen
Peter M
PM
Simmons
Andrew
A
D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D001921:Brain / Q000201:enzymology / Q000473:pathology* / Q000503:physiopathology; D001931:Brain Mapping / Q000379:methods*; D003430:Cross-Sectional Studies; D003937:Diagnosis, Differential; D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods*; D018450:Disease Progression; D004525:Efferent Pathways / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000473:pathology; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D011237:Predictive Value of Tests; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
D005819:Genetic Markers; C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1