Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.
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DOI：
10.1186/s13023-014-0176-7
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发表时间：
2014-11-26
影响因子：
3.7
通讯作者：
Rohrbach M
中科院分区：
文献类型：
--
作者：
Abela L;Plecko B;Palla A;Burda P;Nuoffer JM;Ballhausen D;Rohrbach M
C型尼曼-匹克病（NP-C）是一种罕见的溶酶体胆固醇转运的常染色体隐性遗传病。这项回顾性队列研究的目的是批判性分析瑞士NP-C队列中症状的发作和时间进程以及临床诊断检查。对来自1994年至2013年诊断为NP-C的9个家族的14名患者的临床，生化和遗传数据进行了评估。我们回顾性地评估了与NP-C疾病相关的神经、精神和内脏症状的诊断延迟和周期患病率。计算NP-C怀疑指数，以神经系统疾病发作时间和诊断时间为依据。垂直核上性凝视麻痹的中位诊断延迟时间最短（2年）。共济失调、构音障碍、吞咽困难、痉挛状态、痉挛、癫痫发作和认知下降显示出相似的中位诊断延迟（4- 5年）。最长的中位诊断延迟与肝脾肿大相关（15年）。注意到共济失调、构音障碍、垂直核上性凝视麻痹和认知能力下降的时期患病率最高。NP-C怀疑指数显示，9名患者在神经系统疾病发作时的中位评分为81分，高度怀疑为NP-C疾病。确诊时，评分增至206分。神经精神疾病模式代表NP-C最典型的临床表现，并发生在病程早期。内脏表现，如孤立性肝脾肿大往往无法识别，因此强调了溶酶体贮积症的重要性。NP-C怀疑指数强调了多系统评估的重要性，但在单一症状和婴儿NP-C患者中似乎较弱。本文的在线版本（doi：10.1186/s13023-014-0176-7）包含补充材料，可供授权用户使用。
Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder of lysosomal cholesterol transport. The objective of this retrospective cohort study was to critically analyze the onset and time course of symptoms, and the clinical diagnostic work-up in the Swiss NP-C cohort. Clinical, biochemical and genetic data were assessed for 14 patients derived from 9 families diagnosed with NP-C between 1994 and 2013. We retrospectively evaluated diagnostic delays and period prevalence rates for neurological, psychiatric and visceral symptoms associated with NP-C disease. The NP-C suspicion index was calculated for the time of neurological disease onset and the time of diagnosis. The shortest median diagnostic delay was noted for vertical supranuclear gaze palsy (2y). Ataxia, dysarthria, dysphagia, spasticity, cataplexy, seizures and cognitive decline displayed similar median diagnostic delays (4–5y). The longest median diagnostic delay was associated with hepatosplenomegaly (15y). Highest period prevalence rates were noted for ataxia, dysarthria, vertical supranuclear gaze palsy and cognitive decline. The NP-C suspicion index revealed a median score of 81 points in nine patients at the time of neurological disease onset which is highly suspicious for NP-C disease. At the time of diagnosis, the score increased to 206 points. A neurologic-psychiatric disease pattern represents the most characteristic clinical manifestation of NP-C and occurs early in the disease course. Visceral manifestation such as isolated hepatosplenomegaly often fails recognition and thus highlights the importance of a work-up for lysosomal storage disorders. The NP-C suspicion index emphasizes the importance of a multisystem evaluation, but seems to be weak in monosymptomatic and infantile NP-C patients. The online version of this article (doi:10.1186/s13023-014-0176-7) contains supplementary material, which is available to authorized users.
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影响因子：
120.7
作者：
Meikle, PJ;Hopwood, JJ;Carey, WF
通讯作者：
Carey, WF
影响因子：
4.4
作者：
Iturriaga, C.;Pineda, M.;Coll, M. J.
通讯作者：
Coll, M. J.
影响因子：
5.3
作者：
Poorthuis, BJHM;Wevers, RA;van Diggelen, OP
通讯作者：
van Diggelen, OP
DOI：
10.1016/0925-4439(94)90021-3
发表时间：
1994-05-25
影响因子：
6.2
作者：
RODRIGUEZLAFRASSE, C;ROUSSON, R;VANIER, MT
通讯作者：
VANIER, MT
DOI：
10.1016/0005-2760(83)90218-7
发表时间：
1983-01-01
期刊：
BIOCHIMICA ET BIOPHYSICA ACTA
影响因子：
--
作者：
VANIER, MT
通讯作者：
VANIER, MT