A clinical, pathological and genetic study of a Chinese family with Kennedy disease / 第二军医大学学报

ABSTRACT

Objective: To report a genetically proven Kennedy disease pedigree in China and to discuss its clinical presentations, pathological features and molecular mechanism, so as to provide more information on Kennedy disease. Methods: We conducted a complete survey of the family, including 3 generations and 41 individuals. The proband was given a thorough clinical examination including CK level, EMG, testosterone level, nerve biopsy, and muscle biopsy. Genomic DNA was extracted from the peripheral blood; the repeats of CAG in the exon 1 of androgen receptor was amplified by PCR and sequenced directly. Results: The sequencing result showed that the proband(III-11) had a CAG repeat of 54); one patient (IV-2) had a CAG repeat of 55; one had a CAG repeat of 54; one presymptomatic individual had a CAG repeat of 54(IV-8). There were 3 female carriers (II-6, III-3, and III-15). The CPK and testosterone levels were increased in the proband. EMG revealed neurogenic injury. Nerve biopsy revealed demylination change in the peripheral nerve and muscle biopsy revealed muscle atrophy originated from nerve. Conclusion: Kennedy has no characteristic clinical symptoms, and gene diagnosis is the gold standard. The progression of SBMA is usually much slower compared with those of bulbar atrophy and atrophic lateral sclerosis(ALS).