Ascending family spastic paraplegia at early beginning

The ascending family spastic paraplegia at early beginning is a degenerative disease near to the amyotrophic side Sclérose. The change of gene ALS2 is the cause of this pathology. The signs major of diagnosis are:

  • Appearance of the signs in the first two years of life: increase in the reflexes and muscular Hypertonicity of the lower limbs.
  • muscular Weakness and spastic Paraplegia towards the 8 years age.
  • Required of a wheelchair around 20 years with attack of the upper limbs leading to a Quadriparésie and appearance of a Syndrome pseudo bulbar.

Sources

  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 607225 * Enrico S Bertini, Eleonore Eymard-Pierre, Odile Boespflug-Tanguy, Koji Yamanaka, Gift W Cleveland, ALS2-Related Disorders In GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005

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