A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy.
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Echaniz-Laguna A, Rousso E, Anheim M, Cossee M, Tranchant C
A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy.
Neurology. 2005 Apr 26;64(8):1458-60.
- PubMed ID
- 15851746 [ View in PubMed]
- Abstract
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.