title: Diffusion tensor imaging in sporadic and familial (D90A SOD1) forms of amyotrophic lateral sclerosis.
abstract: 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.
authors.affiliation: Medical Research Council Centre for Neurodegeneration Research and Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London SE5 8AF, England.
authors.forename: Biba R
authors.initials: BR
authors.lastname: Stanton
authors.forename: Daisy
authors.initials: D
authors.lastname: Shinhmar
authors.forename: Martin R
authors.initials: MR
authors.lastname: Turner
authors.forename: Victoria C
authors.initials: VC
authors.lastname: Williams
authors.forename: Steven C R
authors.initials: SC
authors.lastname: Williams
authors.forename: Camilla R V
authors.initials: CR
authors.lastname: Blain
authors.forename: Vincent P
authors.initials: VP
authors.lastname: Giampietro
authors.forename: Marco
authors.initials: M
authors.lastname: Catani
authors.forename: P Nigel
authors.initials: PN
authors.lastname: Leigh
authors.forename: Peter M
authors.initials: PM
authors.lastname: Andersen
authors.forename: Andrew
authors.initials: A
authors.lastname: Simmons
mesh_terms: 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
chemical_list: D005819:Genetic Markers; C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1