2019
DOI: 10.1212/wnl.0000000000007097
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Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy

Abstract: 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), alo… Show more

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Cited by 55 publications
(59 citation statements)
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“…Contrary to what would be expected in a motor cell disorder 3,14,15 , this study shows low levels of pNfH in SBMA patients rather than a disease-related increase, as demonstrated in ALS and in primary lateral sclerosis. The result was also confirmed in a well-established SBMA mouse model.…”
Section: Discussioncontrasting
confidence: 99%
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“…Contrary to what would be expected in a motor cell disorder 3,14,15 , this study shows low levels of pNfH in SBMA patients rather than a disease-related increase, as demonstrated in ALS and in primary lateral sclerosis. The result was also confirmed in a well-established SBMA mouse model.…”
Section: Discussioncontrasting
confidence: 99%
“…This data supports the recent hypothesis of a primary muscle origin of damage in SBMA patients 2,4,13,14 and is consistent with results of NfL in SBMA 14 .…”
Section: Discussionsupporting
confidence: 92%
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