NR AIAP
AU Mastrianni,J.A.; Curtis,M.T.; Oberholtzer,J.C.; Da Costa,M.M.; DeArmond,S.J.; Prusiner,S.B.; Garbern,J.Y.
TI Prion disease (PrP-A117V) presenting with ataxia instead of dementia
QU Neurology 1995 Nov; 45(11): 2042-50
PT journal article
AB Gerstmann-Sträussler-Scheinker disease (GSS) is caused by several different point mutations of the prion protein (PrP) gene, each of which generally produces a distinct clinical phenotype. An ataxic form of GSS is genetically linked to a mutation at codon 102 (CCG -> CTG) leading to the substitution of leucine for proline, while a "telencephalic" variant of GSS, in which dementia is the predominant symptom and ataxia is minimal, has been described in two kindreds with a mutation at codon 117 (GCA -> GTG) resulting in the substitution of valine for alanine. In this report, we present a family with ataxic GSS that has, however, the same mutation at codon 117 as is present in the telencephalic variant of GSS. Other than an additional silent mutation (GCA -> GCG) at codon 117 on the normal allele, there were no other mutations detected. At the polymorphic codon 129, valine was encoded by both alleles in the proband that we studied. Why this family with prion disease (PrP-A117V) should present with ataxia instead of dementia, which was found in two previously identified families with the same PrP gene mutation, remains to be established.
IN Bei der ''telencephalischen'' Variante des Gerstmann-Sträussler-Scheinker-Syndroms bewirkt eine Mutation des Codons 117 von GCA zu GTG, dass Alanin 117 durch Valin ersetzt wird. Bei zwei Familien führt diese Mutation vorallem eine Demens bei minimaler Bewegungseinschränkung. Nun wurde eine Familie mit der gleichen Mutation gefunden, bei der Bewegungsstörungen auftreten. Als einziger Unterschied zu den Prionproteingenen der anderen Familien fiel den Autoren nur eine stille Mutation GCA zu GCG im normalen Codon 117 auf. Am polymorphen Codon 129 kodierten beide Allele ein Valin.
ZR 43
MH Adult; Ataxia/*physiopathology; Base Sequence; Case Report; DNA/analysis; Dementia/physiopathology; Human; Immunohistochemistry; Magnetic Resonance Imaging; Male; Molecular Sequence Data; Polymerase Chain Reaction; Prion Diseases/*genetics/pathology/*physiopathology; Support, Non-U.S. Gov't; Support, U.S. Gov't, P.H.S.
AD Department of Neurology, University of California, San Francisco 94143-0518, USA
SP englisch
PO USA