NR AIMP
AU Mohr,M.; Tranchant,C.; Steinmetz,G.; Floquet,J.; Grignon,Y.; Warter,J.M.
TI Gerstmann-Sträussler-Scheinker disease and the French-Alsatian A117V variant
QU Clinical and Experimental Pathology 1999; 47(3-4): 161-75
PT journal article
AB Gerstmann-Sträussler-Scheinker disease is a rare familial form of prion disease. This autosomal dominant disorder is constantly associated with a point mutation on the PrP gene. Eight mutations affecting respectively codons 102, 105, 117, 145, 202, 212 and 218, have been so far described. Symptoms are variable and include ataxia and dementia. They generally appear between the fourth and sixth decade. Mean duration of the disease (5 years) is on the whole longer than that of other familial forms of prion diseases. Gerstmann-Sträussler-Scheinker disease is neuropathologically characterized by the presence of numerous multicentric or unicentric PrP amyloid deposits widespread throughout the encephalon. Spongiform change is inconstant. Neurofibrillary tangles have been described in some families. Clinicopathological features show considerable variability. Pathogenesis of amyloidosis and associated lesions as well as factors underlying the phenotypic polymorphism of the disease remain only partially known.
MH Adult; Amino Acid Substitution; Female; France; Gerstmann-Sträussler-Scheinker Disease/*genetics/pathology; Human; Male; Pedigree; *Point Mutation; *Polymorphism (Genetics); *Variation (Genetics)
AD Institut d'Anatomie Pathologique, Faculte de Medecine, Strasbourg.
SP englisch
PO Frankreich