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SPG8 mutations in Italian families: clinical data and literature review.

Federica GinanneschiAngelica D'AmoreMelissa BarghigianiAlessandra TessaAlessandro RossiFilippo Maria Santorelli
Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2019)
By a clinical point of view, it is hard to differentiate SPG8 from the SPG4, in which bladder and vibration sense dysfunctions are frequent signs. The differential diagnosis with other forms of AD-HSPs seems relatively easier if one considers the early-onset manifestations in SPG3A and the peripheral nervous system and cerebellar involvement seen in SPG31.
Keyphrases
  • early onset
  • late onset
  • spinal cord injury
  • electronic health record
  • high frequency
  • big data
  • heat shock
  • heat stress
  • heat shock protein