Diagnosing Hereditary Spastic Paraplegia

    
      Re: Diagnosing Hereditary Spastic Paraplegia
    


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Posted by CCF MD on August 15, 1997 at 09:41:49:

In Reply to: Diagnosing Hereditary Spastic Paraplegia posted by Cheryl on July 28, 1997 at 13:03:46:

: I am trying to verify whether or not a blood test exists to diagnose
  Hereditary Spastic Paraplegia (or Familial Spastic Paraparesis).  I
  have heard that there may be a blood test available for the X-linked
  gene, but have not been able to verify that, or find out if tests
  are currently available for any of the other genes.  
===========================================================================
Tough question. This is not an active area of research in our institution so
I'm not sure how much help I can be. I've asked around and the word I hear is
that the gene locus is being looked at in the various subtypes but I think
that any testing is still experimental. I will give you some reference articles
and you could always contact that institution to see if they have anything
available.
American Journal of Medical Genetics 74 (1):26-36, 1997. Familial spastic
paraparesis: evaluation of locus heterogenicity, anticipation, and haplotype
mapping of the SPG4 locus on the short arm of chromosome 2.
Epilepsia 38 (4):495-9, 1997.  A family with hereditary spastic paraparesis
and epilepsy. (review)
Good luck.