Gerstmann-Straussler-Scheinker disease Novel PRNP mutation and VGKC-complex antibodies

被引:14
作者
Jones, Matthew [1 ,3 ]
Odunsi, Sola [2 ]
du Plessis, Daniel [1 ,2 ]
Vincent, Angela [4 ]
Bishop, Matthew [5 ]
Head, Mark W. [5 ]
Ironside, James W. [5 ]
Gow, David [1 ]
机构
[1] Salford Royal Fdn Trust, Greater Manchester Neurosci Ctr, Salford, Lancs, England
[2] Univ Manchester, Manchester Med Sch, Manchester M13 9PL, Lancs, England
[3] Univ Manchester, Inst Brain Behav & Mental Hlth, Manchester M13 9PL, Lancs, England
[4] Univ Oxford, John Radcliffe Hosp, Nuffield Dept Clin Neurosci, Oxford OX1 2JD, England
[5] Univ Edinburgh, Natl Creutzfeldt Jakob Dis Res & Surveillance Uni, Edinburgh EH8 9YL, Midlothian, Scotland
关键词
CREUTZFELDT-JAKOB-DISEASE; INHERITED PRION DISEASE; LIMBIC ENCEPHALITIS; PHENOTYPIC HETEROGENEITY; METAL-BINDING; CSF FINDINGS; PROTEIN; AUTOANTIBODIES; SERIES;
D O I
10.1212/WNL.0000000000000500
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Objective: To describe a unique case of Gerstmann-Strassler-Scheinker (GSS) disease caused by a novel prion protein (PRNP) gene mutation and associated with strongly positive voltagegated potassium channel (VGKC)-complex antibodies (Abs). Methods: Clinical data were gathered from retrospective review of the case notes. Postmortem neuropathologic examination was performed, and DNA was extracted from frozen brain tissue for full sequence analysis of the PRNP gene. Results: The patient was diagnosed in life with VGKC-complex Ab-associated encephalitis based on strongly positive VGKC-complex Ab titers but no detectable LGI1 or CASPR2 Abs. He died despite 1 year of aggressive immunosuppressive treatment. The neuropathologic diagnosis was GSS disease, and a novel mutation, P84S, in the PRNP gene was found. Conclusion: VGKC-complex Abs are described in an increasingly broad range of clinical syndromes, including progressive encephalopathies, and may be amenable to treatment with immunosuppression. However, the failure to respond to aggressive immunotherapy warns against VGKC-complex Abs being pathogenic, and their presence does not preclude the possibility of prion disease.
引用
收藏
页码:2107 / 2111
页数:5
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