Biomarkers of Spinal and Bulbar Muscle Atrophy (SBMA): A Comprehensive Review.
Biomarkers of Spinal and Bulbar Muscle Atrophy (SBMA): A Comprehensive Review.
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DOI：
10.3389/fneur.2018.00844
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发表时间：
2018
影响因子：
3.4
通讯作者：
Pradat PF
中科院分区：
文献类型：
--
作者：
Querin G;Bede P;Marchand-Pauvert V;Pradat PF
脊髓和延髓肌萎缩症(SBMA)，也被称为肯尼迪病，是一种罕见的、X连锁的、起病晚的神经肌肉疾病。这种疾病是由雄激素受体基因第一外显子中CAG三核苷酸重复扩增引起的。它的特点是缓慢进展的下运动神经元变性，原发性肌病和广泛的多系统受累。呼吸系统损害是罕见的，这种情况与正常的预期寿命有关。尽管在小鼠模型上进行了大量的治疗性研究，但到目前为止，还没有有效的疾病修正疗法被批准用于临床。对于进展特别缓慢的SBMA的病理，迫切需要开发敏感的监测标记物来帮助未来的临床试验。最近提出了一小部分预后指标，包括有希望的生化标记物，它们与临床残疾和疾病分期和进展相关。然而，SBMA特异性生物标记物的研究仍然很少，延缓了药物试验监测标记物的发展。通过国际联合体和多中心登记所开展的合作努力可能有助于确定疾病的自然历史特征，建立针对疾病的生物标记物小组，并最终有助于疾病修正药物的开发。
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare, X-linked, late onset neuromuscular disorder. The disease is caused by a CAG trinucleotide repeat expansion in the first exon of the androgen receptor gene. It is characterized by slowly progressive lower motor neurons degeneration, primary myopathy and widespread multisystem involvement. Respiratory involvement is rare, and the condition is associated with a normal life expectancy. Despite a plethora of therapeutic studies in mouse models, no effective disease-modifying therapy has been licensed for clinical use to date. The development of sensitive monitoring markers for the particularly slowly progressing pathology of SBMA is urgently required to aid future clinical trials. A small number of outcome measures have been proposed recently, including promising biochemical markers, which show correlation with clinical disability and disease-stage and progression. Nevertheless, a paucity of SBMA-specific biomarker studies persists, delaying the development of monitoring markers for pharmaceutical trials. Collaborative efforts through international consortia and multicenter registries are likely to contribute to the characterization of the natural history of the condition, the establishment of disease-specific biomarker panels and ultimately contribute to the development of disease-modifying drugs.
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影响因子：
3.4
作者：
Guber RD;Kokkinis AD;Schindler AB;Bendixen RM;Heatwole CR;Fischbeck KH;Grunseich C
通讯作者：
Grunseich C
影响因子：
4.4
作者：
Cedarbaum, JM;Stambler, N;Nakanishi, A
通讯作者：
Nakanishi, A
影响因子：
14.5
作者：
Atsuta, Naoki;Watanabe, Hirohisa;Sobue, Gen
通讯作者：
Sobue, Gen
影响因子：
9.9
作者：
Fratta, Pietro;Nirmalananthan, Niranjanan;Hanna, Michael G.
通讯作者：
Hanna, Michael G.
影响因子：
3
作者：
Bohannon, RW
通讯作者：
Bohannon, RW