The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

Journal of Neurology

Fecha de publicación: 20 February 2018


Autores:Angela Rosenbohm, Susanne Hirsch, Alexander E. Volk, Julian Grosskreutz, Frank Hanisch, Andreas Herrmann, Katja Kollewe, Wolfram Kress.

Background: Spinal and bulbar muscular atrophy (SBMA) is caused by an abnormal expansion of the CAG repeat in the androgen receptor gene. This study aimed to systematically phenotype a German SBMA cohort based on laboratory markers for neuromuscular, metabolic, and endocrine status, and thus provide a basis for the selection of biomarkers for future therapeutic trials.


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