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GENATLAS PHENOTYPE
last update : 08-10-2013
Symbol SPG17
Location 11q12.3
HGNC id 13624
Name spastic paraplegia 17
Other name(s)
  • spastic paraplegia with amyotrophy of hands and feet
  • Silver spastic paraplegia syndrome
  • neuropathy, distal hereditary motor, type V
    • Corresponding gene BSCL2
    Other symbol(s) DHMN5
    Main clinical features
  • peripheral predominantly motor neuropathy with amyotrophy of hands and feet, including Silver syndrome, with normal or slightly to moderately slowed motor nerve conduction
    • Genetic determination autosomal recessive
    autosomal dominant
    Related entries . including also distal spinal muscular atrophy (dSMA) with upper limb predominance (OMIM: 600794)
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     N88S leading to a broad spectrum of motor neuron disorders
    Remark(s)
  • N88S and S90L mutations disrupt the glycosylation, resulting in the aggregation
    • of seipin (Ito 2007)
  • conformational diseases, potentially tightly associated with ER stress-mediated cell death (Ito 2007)