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Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy
Vittoria Lombardi1, Giorgia Querin1, Oliver J Ziff1
1From the Institute of Neurology (V.L., O.J.Z., L.Z., C.H., M.F., C.-H.L., B.M., H.Z., A.H., L.G., M.H., P.F.), University College London Institute of Neurology, Queen Square, London; Blizard Institute (V.L., A.M.), Queen Mary, University of London, UK; Department of Neurosciences (G.Q., I.M., C.B., G.S.), University of Padova, Italy; Department of Neurology (C.-H.L.), China Medical University Hospital, Taiwan; Basildon Hospital (K.A.), UK; Department of Physiology, Anatomy and Genetics (C.R.), University of Oxford; UK Dementia Research Institute at UCL (H.Z., A.H.), London, UK; Clinical Neurochemistry Laboratory (H.Z.), Sahlgrenska University Hospital; and the Department of Psychiatry and Neurochemistry (H.Z.), Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.
Objective:
To determine whether blood biomarkers of neuronal damage (neurofilament light chain [NfL]), muscle damage (creatine kinase [CK]), and muscle mass (creatinine) are altered in spinal and bulbar muscular atrophy (SBMA) and can be used as biomarkers for disease severity.
Methods:
In this multicenter longitudinal prospective study, plasma and serum were collected from 2 cohorts of patients with SBMA in London, United Kingdom (n = 50), and Padova, Italy (n = 43), along with disease (amyotrophic lateral sclerosis [ALS]) and healthy controls, and levels of plasma and serum NfL, CK, and creatinine were measured. Disease severity was assessed by the SBMA Functional Rating Scale and the Adult Myopathy Assessment Tool at baseline and 12 and 24 months.
Results:
Blood NfL concentrations were increased in ALS samples, but were unchanged in both SBMA cohorts, were stable after 12 and 24 months, and were not correlated with clinical severity. Normal NfL levels were also found in a well-established mouse model of SBMA. Conversely, CK concentrations were significantly raised in SBMA compared with ALS samples, and were not correlated to the clinical measures. Creatinine concentrations were significantly reduced in SBMA, and strongly and significantly correlated with disease severity.
Conclusions:
While muscle damage and muscle mass biomarkers are abnormal in SBMA, axonal damage markers are unchanged, highlighting the relevant primary role of skeletal muscle in disease pathogenesis. Creatinine, but not CK, correlated with disease severity, confirming its role as a valuable biomarker in SBMA.
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