Gerstmann-Str?ussler-Scheinker syndrome masquerading multiple sclerosis

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• 作者：Yuval Karmon^a ; ^{yuvalk1@hotmail.com} ; Arielle Kurzweil^b ; ^{arielle.kurzweil@gmail.com} ; Eric Lindzen^c ; ^{orion345@gmail.com} ; Tomas Holmlund^d ; ^{THolmlund@dentinstitute.com} ; Bianca Weinstock-Guttman^a
• 关键词：Gerstmann&ndash ; Str&auml ; ussler&ndash ; Scheinker syndrome ; Multiple sclerosis ; MRI ; Prion ; CSF oligoclonal bands
• 刊名：Journal of the Neurological Sciences
• 出版年：2011
• 出版时间：15 October, 2011
• 年：2011
• 卷：309
• 期：1-2
• 页码：55-57
• 全文大小：1K

文摘

Gerstmann-Str?ussler-Scheinker syndrome (GSS) is a rare degenerative disorder of the central nervous system that belongs to the family of human spongiform encephalopathies, or prion diseases. GSS is almost always inherited and mostly carried in an autosomal dominant pattern. Nevertheless, GSS is genetically and phenotypically heterogeneous; among the different prion diseases GSS has the longest clinical course thereby has the potential to mimic the clinical course of different neurological disorders.

Here, we report of a patient with a progressive ataxic syndrome, with MRI and CSF findings suggestive of a demyelinating-inflammatory process as multiple sclerosis and the cues that prompted to a final diagnosis of GSS.