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Article

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

Neurology - 26 Apr 2005

Echaniz-Laguna A, Rousso E, Anheim M, Cossée M, Tranchant C

Abstract excerpt

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...

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Identifiers

PMID: 15851746
DOI: 10.1212/01.WNL.0000158617.41819.F3

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Source receipt: pubmed, retrieved 7 Sept 2026.

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