Krankenanstalt Rudolfstiftung, Vienna, Austria.
Can J Neurol Sci. 2013 Sep;40(5):635-44. doi: 10.1017/s0317167100014852.
To highlight differences between early-onset and adult mitochondrial depletion syndromes (MDS) concerning etiology and genetic background, pathogenesis, phenotype, clinical presentation and their outcome. MDSs most frequently occur in neonates, infants, or juveniles and more rarely in adolescents or adults. Mutated genes phenotypically presenting with adult-onset MDS include POLG1, TK2, TyMP, RRM2B, or PEO1/twinkle. Adult MDS manifest similarly to early-onset MDS, as myopathy, encephalo-myopathy, hepato-cerebral syndrome, or with chronic progressive external ophthalmoplegia (CPEO), fatigue, or only minimal muscular manifestations. Diagnostic work-up or treatment is not at variance from early-onset cases. Histological examination of muscle may be normal but biochemical investigations may reveal multiple respiratory chain defects. The outcome appears to be more favorable in adult than in early-onset forms. Mitochondrial depletion syndromes is not only a condition of neonates, infants, or juveniles but rarely also occurs in adults, presenting with minimal manifestations or manifestations like in the early-onset forms. Outcome of adult-onset MDS appears more favorable than early-onset MDS.
为了突出早发型和成人线粒体耗竭综合征（MDS）在病因和遗传背景、发病机制、表型、临床表现及其预后方面的差异。MDS 最常发生于新生儿、婴儿或青少年，较少发生于青少年或成人。表现为成人发病 MDS 的突变基因包括 POLG1、TK2、TyMP、RRM2B 或 PEO1/twinkle。成人 MDS 的表现与早发型 MDS 相似，如肌病、脑肌病、肝脑综合征，或伴有慢性进行性眼外肌麻痹（CPEO）、疲劳或仅有轻微的肌肉表现。诊断性检查或治疗与早发型病例并无不同。肌肉组织的组织学检查可能正常，但生化检查可能显示多种呼吸链缺陷。成人发病 MDS 的预后似乎优于早发型。线粒体耗竭综合征不仅是新生儿、婴儿或青少年的一种疾病，而且在成人中也很少发生，表现为轻微的表现或类似于早发型的表现。成人发病 MDS 的预后似乎优于早发型 MDS。
