Treatable metabolic psychoses that go undetected: What Niemann-Pick type C can teach us

被引:19
作者
Kluenemann, Hans-Hermann [1 ]
Santosh, Paramala J. [2 ]
Sedel, Frederic [3 ,4 ]
机构
[1] Univ Regensburg, Klin & Poliklin Psychiat Psychosomat & Psychother, Bezirksklinikum, D-93053 Regensburg, Germany
[2] Kings Coll London, Dept Child & Adolescent Psychiat, Inst Psychiat, London WC2R 2LS, England
[3] Grp Hosp Pitie Salpetriere, Dept Neurol, F-75634 Paris, France
[4] Reference Ctr Lysosomal Dis, Paris, France
关键词
Inborn errors of metabolism; Niemann-Pick disease type C; organic psychosis; DISEASE TYPE-C; CHOLESTEROL; ADULT; MIGLUSTAT; THERAPY; BRAIN; MANIFESTATIONS; EXPRESSION; DIAGNOSIS; GENE;
D O I
10.3109/13651501.2012.687451
中图分类号
R749 [精神病学];
学科分类号
100205 ;
摘要
Objective. The objective of this review is to raise awareness of the prevalence of inborn errors of metabolism, in particular NP-C, in psychiatric populations. Methods. This review summarises research presented at a satellite symposium held on 28 August 2010 at the 23rd European College of Neuropsychopharmacology (ECNP) meeting. Results and Conclusion. Organic causes of psychoses may have an unrecognised yet notable prevalence, particularly in adolescent or adult patients. Several inherited metabolic disorders can present with psychiatric signs. In some disorders, such as Niemann-Pick type C (NP-C), the disease may remain unrecognised for many years due to a heterogeneous and subtle clinical presentation. In patients presenting with psychoses, subtle signs such as vertical supranuclear gaze palsy, ataxia and splenomegaly should raise the suspicion of NP-C. Miglustat is so far the only approved treatment for NP-C. Miglustat can stabilise neurological disease, particularly in adolescent or adult-onset patients who are detected as early as possible, before irreversible neurological damage occurs.
引用
收藏
页码:162 / 169
页数:8
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