Spiegel Ronen, Shaag Avraham, Edvardson Simon, Mandel Hanna, Stepensky Polina, Shalev Stavit A, Horovitz Yoseph, Pines Ophry, Elpeleg Orly
Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Ann Neurol. 2009 Sep;66(3):419-24. doi: 10.1002/ana.21752.
Four patients, aged 7-20 years, suffered from recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. Using homozygosity mapping, a pathogenic missense mutation in the SLC25A19 gene that encodes the mitochondrial thiamine pyrophosphate transporter was identified. An SLC25A19 mutation was previously reported in Amish congenital lethal microcephaly but the present patients' phenotype is markedly different, with normal head circumference, normal early childhood development, age-appropriate cognitive skills, and normal urinary organic acid profile. Determination of the SLC25A19 sequence should be considered in patients with bilateral striatal necrosis and progressive polyneuropathy.
4名年龄在7至20岁的患者反复出现弛缓性麻痹和脑病发作，伴有双侧纹状体坏死和慢性进行性多神经病。通过纯合子定位，在编码线粒体硫胺素焦磷酸转运蛋白的SLC25A19基因中鉴定出一个致病性错义突变。先前在阿米什先天性致死性小头畸形中报道过SLC25A19突变，但目前这些患者的表型明显不同，头围正常、幼儿早期发育正常、认知技能与年龄相符且尿有机酸谱正常。对于患有双侧纹状体坏死和进行性多神经病的患者，应考虑测定SLC25A19序列。
