KENNEDYS-DISEASE - CLINICAL AND MOLECULAR STUDY OF 2 ITALIAN FAMILIES

Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-linked motoneuron disorder with variable signs of androgen inse nsitivity, It is associated with the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene, We here report our clin ical and molecular findings in two Italian families with Kennedy's dis ease, The increased size of the CAG repeat was demonstrated in four af fected males and seven carrier females.