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References OMIM Gene GeneReviews HGMD HGNC
last update : 08-10-2013
Symbol SPG48
Location 7p22.1
HGNC id 22197
Name spastic paraplegia 48
Corresponding gene KIAA0415
Main clinical features
  • progressive spastic paraplegia associated with urinary incontinence
  • late onset (6th decade) uncomplicated spastic paraplegia
  • normal cerebral MRI with inconstant spinal hyperintensities at C3-C4 and C7
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name KIAA0415
    Gene mutationChromosome rearrangementEffectComments
    frameshift deletion abnormal protein/loss of function  
    nonsense   abnormal protein/loss of function