Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease

被引：34
作者：
Anheim, Mathieu [1 ,2 ,3 ]
Lagha-Boukbiza, Ouhaid [1 ,3 ]
Fleury-Lesaunier, Marie-Celine [1 ,3 ]
Valenti-Hirsch, Maria-Paola [1 ,3 ]
Hirsch, Edouard [1 ,3 ]
Gervais-Bernard, Helene [4 ,5 ]
Broussolle, Emmanuel [4 ,5 ,6 ]
Thobois, Stephane [4 ,5 ,6 ]
Vanier, Marie T. [5 ,7 ,8 ]
Latour, Philippe [5 ,7 ,8 ]
Tranchant, Christine [1 ,2 ,3 ]
机构：
[1] CHU Strasbourg, Hop Hautepierre, Serv Neurol, F-67098 Strasbourg, France
[2] Univ Strasbourg, CNRS, INSERM, Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, France
[3] Univ Strasbourg, Federat Med Translat Strasbourg, Strasbourg, France
[4] GH Est Hop Pierre Wertheimer, Hosp Civils Lyon, Serv Neurol, F-69677 Bron, France
[5] Univ Lyon, Fac Med Lyon Sud, Lyon, France
[6] CNRS, UMR 5229, Ctr Neurosci Cognit, Bron, France
[7] Hosp Civils Lyon, GH Est Ctr Biol & Pathol, UF Neurogenet Mol, F-69677 Bron, France
[8] Hosp Civils Lyon, GH Est Ctr Biol & Pathol, Lab Gillet Merieux, F-69677 Bron, France
来源：
JOURNAL OF NEUROLOGY | 2014年 / 261卷 / 01期
关键词：
Ataxia; Chorea; Myoclonus; Dystonia; Niemann-Pick type C; CHOLESTEROL; ATAXIA; MYOCLONUS; SPECTRUM; VARIANT; BRAIN; HE-1; GENE;
D O I：
10.1007/s00415-013-7159-9
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Niemann-Pick type C disease (NPC) is a recessive neurolipidosis. We report five adolescent and adult NPC cases to underscore the frequency and heterogeneity of movement disorders in NPC. Clinical, morphologic, biochemical and genetic study was performed in the five patients. Disease onset was between 8 and 50 years. Movement disorders were present in all cases, were heterogeneous and often combined [cerebellar ataxia (5/5), myoclonus (3/5), dystonia (2/5), chorea (1/5) and tremor (1/5)] and were the first sign in 4/5. Two patients were reported to have no vertical supranuclear gaze palsy (VSGP) at the first examination. Two patients experienced acute neuropsychiatric signs leading to death in one case due to myoclonic storm. Filipin staining was always positive. Two NPC1 mutations were identified in three patients, only one in two siblings. NPC should be considered in case of unexplained movement disorders, even when VSGP or cataplexy are not reported. Filipin staining remains a strong support for the diagnosis. Treatment with miglustat should be considered which is currently the only approved disease- specific treatment of NPC in children and adults.
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收藏
页码：174 / 179
页数：6
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