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  5. Spastic paraparesis deafness

Spastic paraparesis deafness

December 31, 2014

Latest Research

  • A case of HTLV-1 associated myelopathy progressed in course over 30 years
  • A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness
  • Allgrove syndrome (triple A). Finding of a mutation not described in the AAAS gene
  • An epidemic in Cuba of optic neuropathy, sensorineural deafness, peripheral sensory neuropathy and dorsolateral myeloneuropathy
  • Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
More Research
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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