Spinal and bulbar muscular atrophy (SBMA), known as Kennedy disease (KD), is a slowly progressive adult-onset X-linked neuromuscular disorder with no effective treatment. It is characterised by progressive limb and bulbar muscle weakness, associated with metabolic and endocrine alterations.1 2 SBMA is caused by the expansion of a CAG repeat in exon 1 of the androgen receptor ( AR ) gene; more than 37 repeats are pathogenic.1 While the genetic test is diagnostic, biomarkers would aid the initial differential diagnosis, and furthermore, there is a strong need for disease activity and progression markers to inform effective clinical trials design. Neurofilaments (Nfs), both light and heavy chains, are now becoming a widely accepted marker of neuronal damage and a prognostic biomarker for amyotrophic lateral sclerosis (ALS) and other neurodegenerative disease.3–7 Recently, plasma neurofilament light chain (NfL) levels were unexpectedly found not to be raised in patients with SBMA.8 This finding supports other lines of evidence, including an increase in plasma muscle damage markers, myopathic changes in biopsies and a series of genetic experiments in mouse models, that point to a primary myopathic involvement in SBMA.2 9 10 We here used the highly sensitive single molecule array (SIMOA) platform to investigate plasma levels of phosphorylated neurofilament heavy chain (pNfH), another well-established marker of neuronal damage, in patients with SBMA and in a rodent model of disease. We have undertaken cross-sectional pNfH analysis using the SIMOA platform in plasma from 46 patients with SBMA, 50 patients with ALS (25 ALS-Fast and 25 ALS-Slow, as previously described)8 and 50 healthy controls (HCs) previously tested for NfL. Participant’s demographic and clinical data are summarised in figure 1A, and detailed methods and statistical analysis are listed in the online supplementary file 1. ### Supplementary data [jnnp-2019-320624supp001.pdf] Figure 1 (A) Cohort demographic, genetic information, pNfH and clinical …

中文翻译：

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血浆 pNfH 水平可区分 SBMA 和 ALS。

脊髓和延髓肌萎缩症 (SBMA)，称为肯尼迪病 (KD)，是一种缓慢进展的成人发病 X 连锁神经肌肉疾病，目前尚无有效治疗方法。它的特点是进行性肢体和延髓肌无力，与代谢和内分泌改变有关。1 2 SBMA 是由雄激素受体 (AR) 基因外显子 1 中 CAG 重复序列的扩增引起的；超过 37 个重复是致病的。1 虽然基因检测具有诊断性，但生物标志物将有助于初步鉴别诊断，此外，强烈需要疾病活动和进展标志物来为有效的临床试验设计提供信息。神经丝 (Nfs)，包括轻链和重链，我们使用 SIMOA 平台对来自 46 名 SBMA 患者、50 名 ALS 患者（25 名 ALS-Fast 和 25 名 ALS-Slow，如前所述）8 和 50 名健康对照 (HC) 的血浆进行了横断面 pNfH 分析NfL。参与者的人口统计和临床数据总结在图 1A 中，详细方法和统计分析列在在线补充文件 1 中。 ### Supplementary data [jnnp-2019-320624supp001.pdf] 图 1 (A) Cohort demographic, genetic information , pNfH 和临床……