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GENATLAS PHENOTYPE
last update : 03-01-2014
Symbol SPG15
Location 14q24.1
HGNC id 11229
Name spastic paraplegia 15
Other name(s)
  • Kjellin syndrome
  • spastic paraplegia and retinal degeneration
  • Corresponding gene ZFYVE26
    Main clinical features
  • complicated spastic paraplegia, with pigmentary maculopathy, distal amyotrophy, dysarthria, mental retardation, associated or not with peripheral neuropathy, maculopathy, cerebellar ataxia, thin corpus callosum, and white matter abnormalities on MRI, and further intellectual deterioration (Kjellin syndrome)
  • atypical juvenile parkinsonism
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name Spastizin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein located upstream of the putative leucine zipper domain
    frameshift   truncated protein  
    insertion   truncated protein  
    insertion-deletion   truncated protein  
    deletion   truncated protein  
    Remark(s) SPG15 is caused by an endolysosomal membrane trafficking defect, which results in endolysosomal dysfunction PMID:24367272