Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy

Neurology
Vittoria LombardiPietro Fratta

Abstract

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. 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. 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 wit...Continue Reading

Citations

Sep 17, 2020·Journal of Neurology, Neurosurgery, and Psychiatry·Atsushi HashizumeMasahisa Katsuno
Feb 9, 2021·Frontiers in Neurology·Elina MillereViktorija Kenina
Oct 17, 2020·Molecular Neurodegeneration·Elisabetta ZucchiJessica Mandrioli

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