Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease
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DOI：
10.1002/ana.1103
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发表时间：
2001-08-01
影响因子：
11.2
通讯作者：
Voznyi, YV
中科院分区：
文献类型：
--
作者：
van Diggelen, OP;Thobois, S;Voznyi, YV
棕榈酰蛋白硫酯酶(PPT)的荧光酶分析极大地促进了婴儿神经元性蜡样脂褐素沉着症(Santavuori-Haltia病)的诊断和寻找具有不典型临床表现的可能的新变异体。在这里，我们提出了第一例成人神经性蜡样脂褐素沉积症，由于PPT的严重缺乏，在生命的第四个十年起病。CLN1基因的致病突变是已知的有害突变R151X和新的错义突变G108R。患者发病时(31岁和38岁)，仅有精神症状。目前(年龄分别为56岁和54岁)，视力、语言和认知能力下降，两名患者都有小脑性共济失调，没有支撑就不能行走。
The fluorogenic enzyme assay for palmitoyl-protein thioesterase (PPT) has greatly facilitated the diagnosis of infantile neuronal ceroid lipofuscinosis (Santavuori-Haltia disease) and the search for possible new variants with atypical clinical presentation. Here, we present the first cases of adult neuronal ceroid lipofuscinosis with onset in the fourth decade of life due to a profound deficiency of PPT. The causative mutations in the CLN1 gene were the known, deleterious mutation R151X and the novel missense mutation G108R. Patients presented at onset (31 and 38 years), with psychiatric symptoms only. At present (ages 56 and 54 years), visual, verbal, and cognitive losses have progressed and both patients have cerebellar ataxia and cannot walk without support.