A case of gerstmann-sträussler-scheinker disease.
BACKGROUND
Gerstmann-Sträussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy (TSE) that is determined genetically.


METHODS
A 46-year-old woman presented with a slowly progressive ataxic gait and cognitive decline. She was alert but did not cooperate well due to severe dementia and dysarthria. High signal intensities in the cerebral cortices were evident in MRI, especially in diffusion-weighted images (DWI). A prion protein gene (PRNP) analysis revealed a P102L (proline-to-leucine) mutation in codon 102.


CONCLUSIONS
This is the first reported case of GSS (confirmed by PRNP analysis) in Korea. Distinctive MRI findings are also presented.
Park
Min Jeong
MJ
Department of Neurology, Bongseng Memorial Hospital, Busan, Korea.
Jo
Hee Young
HY
Cheon
Sang-Myung
SM
Choi
Sun Seob
SS
Kim
Yong-Sun
YS
Kim
Jae Woo
JW
Rinsho Shinkeigaku. 2001 Jun;41(6):318-21
11771163
Magn Reson Med Sci. 2007;6(1):53-7
17510542
N Engl J Med. 2001 May 17;344(20):1516-26
11357156
Hum Genet. 2005 Nov;118(2):166-74
16187142
Neurology. 2006 Jun 13;66(11):1672-8
16769939
Arch Neurol. 1996 Feb;53(2):162-6
8639066
Arch Neurol. 2002 Jan;59(1):128-34
11790240
Rinsho Shinkeigaku. 2006 Apr;46(4):291-3
16768100
Neuroradiology. 2000 Sep;42(9):662-5
11071439
Nature. 1989 Mar 23;338(6213):342-5
2564168
Lancet. 2004 Jan 3;363(9402):51-61
14723996
Ann Neurol. 1998 Jan;43(1):32-40
9450766
Neurology. 2004 Aug 10;63(3):443-9
15304574