Adult polyglucosan body disease: Case description of an expanding genetic and clinical syndrome
Adult polyglucosan body disease: Case description of an expanding genetic and clinical syndrome
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DOI：
10.1002/mus.10520
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发表时间：
2004-02-01
期刊：
影响因子：
3.4
通讯作者：
Dyck, PJ
中科院分区：
文献类型：
--
作者：
Klein, CJ;Boes, CJ;Dyck, PJ
一个非犹太人的病人被描述谁有成人葡聚糖体病（APBD）和糖原分支酶（GBE）缺乏没有GBE突变。在50例正常人中发现1例杂合多态性（瓦尔-160 lle）。磁共振成像显示中脑、髓橄榄、齿状核、小脑脚和内外囊T2信号增加，伴蚓部萎缩。肌肉和神经活检均显示血管周围炎性浸润。这些发现扩大了APBD的临床和遗传谱。除GBE基因突变外，其他因素也可能导致APBD的发生、发展和表达的改变。
A non-Jewish patient is described who had adult polyglucosan body disease (APBD) and glycogen branching enzyme (GBE) deficiency without GBE mutation. A heterozygous polymorphism (Val-160lle) was found, and also discovered in 1 of 50 normal individuals. Magnetic resonance imaging demonstrated increased T2 signal in the midbrain, medullary olives, dentate nuclei, cerebellar peduncles, and internal and external capsules, with vermian atrophy. Both muscle and nerve biopsy revealed perivascular inflammatory infiltrates. These findings expand the clinical and genetic spectrum of APBD. Factors other than mutation of the expressed GBE gene may cause enzyme deficiency and varied expression and development of APBD.