CLINICAL ANALYSIS OF FAMILIAL AMYOTROPHIC -LATERAL-SCLEROSIS - REVIEWOF LITERATURE

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder in volving both upper and lower motor neurons. The disease is possibly du e to several factors, including a genetic one. This is supported by th e existence of 5 to 10 p. 100 familial cases. In these pedigrees, the transmission is autosomal dominant, with a high penetrance (> 90 p. 10 0). We studied the phenotypes of these familial cases, in reviewing th e literature on familial ALS (FALS). It has been noted that FALS are h eterogeneous, with different age of onset, site of onset and disease d uration. Moreover, in FALS, onset is earlier than in the sporadic form (48 vs 60 years, as usually reported in the literature). We also freq uently noted sensory disorders (20 p. 100), onset on the lower limbs ( 46 p. 100) and decreased or absent ankle-jerks (75 p. 100) in FALS pat ients.