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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 08-10-2013
Symbol SPG30
Location 2q37.3
HGNC id 30017
Name spastic paraplegia 30
Corresponding gene KIF1A
Other symbol(s) HSP30
Main clinical features
  • mild ataxia and sensory neuropathy
  • spastic paraparesis and peripheral neuropathy associated with slight cerebellar signs confirmed by cerebellar atrophy on one CT scan
  • complicated spastic paraplegia, distal wasting, saccadic ocular pursuit, peripheral neuropathy, mild cerebellar signs
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name kinesin family member 1A
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function