Central neurodegeneration in Kennedy's disease accompanies peripheral motor dysfunction.

Autor: Tu S; Brain and Mind Centre, Faculty of Medicine and Health, The University of Sydney, Sydney, 2050, Australia. sicong.tu@sydney.edu.au.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, 2050, Australia. sicong.tu@sydney.edu.au., Li T; Brain and Mind Centre, Faculty of Medicine and Health, The University of Sydney, Sydney, 2050, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, 2050, Australia., Carroll AS; Brain and Mind Centre, Faculty of Medicine and Health, The University of Sydney, Sydney, 2050, Australia.; Department of Neurology and Neurophysiology, St Vincent's Hospital, Sydney, 2010, Australia., Mahoney CJ; Brain and Mind Centre, Faculty of Medicine and Health, The University of Sydney, Sydney, 2050, Australia., Huynh W; Brain and Mind Centre, Faculty of Medicine and Health, The University of Sydney, Sydney, 2050, Australia.; Prince of Wales Clinical School, The University of New South Wales, Sydney, 2052, Australia., Park SB; Brain and Mind Centre, Faculty of Medicine and Health, The University of Sydney, Sydney, 2050, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, 2050, Australia., Henderson R; Royal Brisbane and Women's Hospital, University of Queensland, Brisbane, 4029, Australia., Vucic S; Brain and Mind Centre, Faculty of Medicine and Health, The University of Sydney, Sydney, 2050, Australia.; Brain and Nerve Research Centre, Concord Clinical School, The University of Sydney, Sydney, 2137, Australia., Kiernan MC; Brain and Mind Centre, Faculty of Medicine and Health, The University of Sydney, Sydney, 2050, Australia.; Department of Neurology, Royal Prince Alfred Hospital, Sydney, 2050, Australia., Lin CS; Brain and Mind Centre, Faculty of Medicine and Health, The University of Sydney, Sydney, 2050, Australia. cindy.lin@sydney.edu.au.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, 2050, Australia. cindy.lin@sydney.edu.au.
Jazyk: angličtina
Zdroj: Scientific reports [Sci Rep] 2024 Aug 07; Vol. 14 (1), pp. 18331. Date of Electronic Publication: 2024 Aug 07.
DOI: 10.1038/s41598-024-69393-5
Abstrakt: Spinal and bulbar muscular atrophy (SBMA), or Kennedy's disease (KD), is a rare hereditary neuromuscular disorder demonstrating commonalities with amyotrophic lateral sclerosis (ALS). The current study aimed to define functional and central nervous system abnormalities associated with SBMA pathology, their interaction, and to identify novel clinical markers for quantifying disease activity. 27 study participants (12 SBMA; 8 ALS; 7 Control) were recruited. SBMA patients underwent comprehensive motor and sensory functional assessments, and neurophysiological testing. All participants underwent whole-brain structural and diffusion MRI. SBMA patients demonstrated marked peripheral motor and sensory abnormalities across clinical assessments. Increased abnormalities on neurological examination were significantly associated with increased disease duration in SBMA patients (R 2  = 0.85, p < 0.01). Widespread juxtacortical axonal degeneration of corticospinal white matter tracts were detected in SBMA patients (premotor; motor; somatosensory; p < 0.05), relative to controls. Increased axial diffusivity was significantly correlated with total neuropathy score in SBMA patients across left premotor (R 2  = 0.59, p < 0.01), motor (R 2  = 0.63, p < 0.01), and somatosensory (R 2  = 0.61, p < 0.01) tracts. The present series has identified involvement of motor and sensory brain regions in SBMA, associated with disease duration and increasing severity of peripheral neuropathy. Quantification of annualized brain MRI together with Total Neuropathy Score may represent a novel approach for clinical monitoring.
(© 2024. The Author(s).)
Databáze: MEDLINE
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