Familial spastic ataxia associated with Ehlers-Danlos syndrome with platelet dysfunction.
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.
D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000235:genetics*; D001791:Blood Platelet Disorders / Q000150:complications* / Q000235:genetics; D002648:Child; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D008074:Lipoproteins / Q000097:blood; D008297:Male; D009128:Muscle Spasticity / Q000150:complications; D010375:Pedigree; D010974:Platelet Aggregation
D008074:Lipoproteins