Familial spastic ataxia associated with Ehlers-Danlos syndrome with platelet dysfunction

Can J Neurol Sci. 1984 Nov;11(4 Suppl):541-9.

Abstract

Four members of a family with consanguineous relationships, the proband and his three children (2 sons and 1 daughter) are affected with Familial Spastic Ataxia and with Ehlers-Danlos' Syndrome with platelet aggregation dysfunction. In the four cases, this exceptional association appears remarkably homogeneous both in clinical and laboratory studies. The two syndromes are of dominant-autosomic transmission and probably originated in a new mutation which presumably maintained a genetic linkage. Spastic ataxia is characterized by a precocious onset and a slow evolution. The first-born son shows a dominant pyramidal syndrome with mild ataxia suggesting that it is a transitional form of familial spastic paraplegia. The Ehlers-Danlos syndrome pertains to form II or "mitis" with moderate skin hyperelasticity and joint hypermobility. The abnormal platelet aggregation curves have the same profile in all the patients. The first-born son also presents a mitral valve prolapsus as we may find either in Ehlers-Danlos syndrome or in spastic ataxia. The neurophysiological, tomographical, histological, ultrastructural and biochemical studies attempt to accomplish a better definition of these associated nosological entities.

MeSH terms

  • Adolescent
  • Adult
  • Ataxia / genetics*
  • Blood Platelet Disorders / complications*
  • Blood Platelet Disorders / genetics
  • Child
  • Ehlers-Danlos Syndrome / complications*
  • Ehlers-Danlos Syndrome / genetics
  • Female
  • Humans
  • Lipoproteins / blood
  • Male
  • Muscle Spasticity / complications
  • Pedigree
  • Platelet Aggregation

Substances

  • Lipoproteins