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A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy

From the Département de Neurologie (Drs. Echaniz-Laguna, Rousso, Anheim, and Tranchant), Hôpital Civil de Strasbourg, and INSERM U-692 (Dr. Echaniz-Laguna) and Service de Diagnostic Génétique (Dr. Cossée), Faculté de Médecine, CHRU de Strasbourg, France.

Address correspondence and reprint requests to Dr. A. Echaniz-Laguna, Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l’Hôpital, BP426, 67091 Strasbourg, France; e-mail: Echaniz-Laguna{at}medecine.u-strasbg.fr

Spinal and bulbar muscular atrophy (SBMA) is an X-linked, late-onset neuroendocrine disorder resulting from an expansion of a CAG repeat in the androgen receptor gene. Reported here is a detailed phenotypic study in a series of seven patients from the same family with SBMA with 50 to 54 CAG repeats, juvenile onset (mean age at onset 13 years [8 to 15 years]), and rapid progression leading to compromised ambulation in the mid-20s.

Received August 30, 2004. Accepted in final form January 13, 2005.