[Kennedy disease in Peru: first cases with molecular diagnosis].
Kennedy's disease is an X-linked recessive disorder with onset in adulthood, characterized by progressive degeneration of spinal motor neurons due to a dynamic mutation in the androgen receptor gene. We report three families (five cases) characterized by progressive weakness involving both limbs and bulbar muscles, atrophy, tremor, cramps and endocrinologic disturbances; the neurophysiological studies demonstrated second motor neuron impairment. The molecular analysis identified abnormal CAG repeats expansion in the androgen receptor gene (AR) in all cases. Clinical features were consistent with other previous reports. These are the first Peruvian cases of Kennedy's disease with confirmed molecular diagnosis.
Departamento de Enfermedades Neurodegenerativas, Instituto Nacional de Ciencias Neurológicas, Lima, Perú
Víctor
V
Gómez-Calero
Mario
M
Cornejo-Olivas
Olimpio
O
Ortega
Victoria
V
Marca
Saúl
S
Lindo-Samanamud
Martha
M
Flores
Luis
L
Torres-Ramírez
Pilar
P
Mazzetti
D000328:Adult; D000368:Aged; D055534:Bulbo-Spinal Atrophy, X-Linked / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010568:Peru