Central core disease: new findings in an old disease.
Central core disease: new findings in an old disease.
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中央核心疾病：老病的新发现。
DOI：
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发表时间：
2003
期刊：
影响因子：
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通讯作者：
C. Sewry
中科院分区：
文献类型：
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作者：
Francesco Muntoni;C. Sewry
中枢性核心病是一种定义明确的临床疾病，具有显著的病理改变，有助于诊断。Shy和Magee(1956)在1956年首次报道了这种情况，他们描述了一个优势家族，在这个家族中，肌肉纤维的中心区域缺乏氧化酶活性。他们根据这种组织病理学特征将这种疾病命名为中央核心病。从那时起，许多类似的病例被确认，证实这是一种明显的疾病。
在1956至1990年间，相对较少发生这种情况，当时与19q.13染色体建立了联系，随后在1993年发现了ryanodine受体基因(RYR1)的突变。同样的基因突变也发生在恶性高热易感性(MHS)患者中(McCarthy等人，2000年)，他们中的一些人显示出核心损害，尽管他们可能没有肌肉无力。
RYR1基因的巨大长度(106个外显子)使得研究大量患者和建立基因-表型相关性变得困难。然而，最近在病理学和分子水平上取得了重大进展。我们现在知道，有偏心或外围核心和/或多个微核的病例，或仅显示1型纤维均一而无核心的病例，或仅有轻度氧化酶染色不均匀的病例，或与…相关的明显肌肉被脂肪组织替代的病例
Central core disease (CCD) is a clearly defined clinical condition with striking pathological changes that facilitate the diagnosis. The condition was first reported in 1956 by Shy and Magee (1956) who described a dominant family in which muscle fibres had a central area devoid of oxidative enzyme activity. They named the disorder central core disease, after this histopathological feature. Since then many similar cases have been identified, confirming that this is a distinct disorder.
Relatively little happened between 1956 and 1990, when linkage to chromosome 19q.13 was established, followed in 1993 by the identification of mutations in the ryanodine receptor gene ( RYR1 ). Mutations in the same gene also occur in patients with malignant hyperthermia susceptibility (MHS) (McCarthy et al ., 2000), some of whom show core lesions, although they may have no muscle weakness.
The large size of the RYR1 gene (106 exons) has made it difficult to study large populations of patients and establish a genotype–phenotype correlation. However, significant pathological and molecular advances have recently been made. We now know that cases with eccentric or peripheral cores, and/or multiple minicores, or cases showing only uniformity of type 1 fibres with an absence of cores, or cases with only mild unevenness of oxidative enzyme staining, or cases with marked muscle replacement by fatty tissue in association …