TY - JOUR
T1 - The Original Gerstmann‐Sträussler‐Scheinker Family of Austria
T2 - Divergent Clinicopathological Phenotypes but Constant PrP Genotype
AU - Hainfellner, Johann A.
AU - Brantner‐Inthaler, Sigrid
AU - Cervenáková, Larisa
AU - Brown, Paul
AU - Kitamoto, Tetsuyuki
AU - Tateishi, Jun
AU - Diringer, Heino
AU - Liberski, Pawel P.
AU - Regele, Heinz
AU - Feucht, Martha
AU - Mayr, Norbert
AU - Wessely, Peter
AU - Summer, Kurt
AU - Seitelberger, Franz
AU - Budka, Herbert
PY - 1995/7
Y1 - 1995/7
N2 - We present new data on the original Austrian kindred with Gerstmann‐Sträussler‐Scheinker disease (GSS) which encompasses currently 221 members in 9 generations. The mode of inheritance is autosomal dominant. Predominant clinical features are slowly progressive ataxia and late impairment of higher cerebral functins. In contrast, a recent case with proven P102L mutation of the PRNP gene had rapidly developing dementia and severe cortical damage indistinguishable from the clinicopathological phenotype of Creutzfeldt‐Jakob disease (CJD). PRNP codon 129 was homozygous for methionine in both the historic and recent cases. Neuropathology confirms spongiosis of variable degree and numerous protease resistant / prion protein (PrP) amyloid plaques scattered throughout most of the brain as constant features in this family. Some amyloid deposits are surrounded by dystrophic neurites with accumulation of phosphorylated neurofilaments and abnormal organelles, reminiscent of Alzheimer‐type plaques. Severe telencephalic damage and a synaptic‐type fine granular immunoreactivity in laminar distribution in the cortex with anti‐PrP after hydrated autoclaving of sections were seen only in the recent patient. In conclusion, factors in addition to the PRNP genotype at codons 102 and 129 must play a role in determining clinicopathological characteristics of this inherited brain amyloidosis.
AB - We present new data on the original Austrian kindred with Gerstmann‐Sträussler‐Scheinker disease (GSS) which encompasses currently 221 members in 9 generations. The mode of inheritance is autosomal dominant. Predominant clinical features are slowly progressive ataxia and late impairment of higher cerebral functins. In contrast, a recent case with proven P102L mutation of the PRNP gene had rapidly developing dementia and severe cortical damage indistinguishable from the clinicopathological phenotype of Creutzfeldt‐Jakob disease (CJD). PRNP codon 129 was homozygous for methionine in both the historic and recent cases. Neuropathology confirms spongiosis of variable degree and numerous protease resistant / prion protein (PrP) amyloid plaques scattered throughout most of the brain as constant features in this family. Some amyloid deposits are surrounded by dystrophic neurites with accumulation of phosphorylated neurofilaments and abnormal organelles, reminiscent of Alzheimer‐type plaques. Severe telencephalic damage and a synaptic‐type fine granular immunoreactivity in laminar distribution in the cortex with anti‐PrP after hydrated autoclaving of sections were seen only in the recent patient. In conclusion, factors in addition to the PRNP genotype at codons 102 and 129 must play a role in determining clinicopathological characteristics of this inherited brain amyloidosis.
UR - http://www.scopus.com/inward/record.url?scp=0028990981&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028990981&partnerID=8YFLogxK
U2 - 10.1111/j.1750-3639.1995.tb00596.x
DO - 10.1111/j.1750-3639.1995.tb00596.x
M3 - Article
C2 - 8520719
AN - SCOPUS:0028990981
VL - 5
SP - 201
EP - 211
JO - Brain Pathology
JF - Brain Pathology
SN - 1015-6305
IS - 3
ER -