Clinical Features of Female Carriers and Prodromal Male Patients With Spinal and Bulbar Muscular Atrophy.
Ryota ToriiAtsushi HashizumeShinichiro YamadaDaisuke ItoYoshiyuki KishimotoHideyuki MoriyoshiTomonori InagakiRyoichi NakamuraTomohiko NakamuraTameto NaoiMitsuya MoritaMasahisa KatsunoPublished in: Neurology (2022)
The present study revealed that female carriers of SBMA manifest mild muscular weakness associated with changes in neurogenic biomarkers. Conversely, male patients showed neurogenic and myopathic changes even at the early-stage. These results suggest a testosterone-independent neurodegenerative pathophysiology in female SBMA carriers.