A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia.
Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann-Sträussler-Scheinker syndrome (GSS), a genetic PD mainly related to the P102L mutation in the PRNP gene. Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. The patients, negative for the most common acquired and genetic forms, were analyzed using a combination of restriction endonuclease digestion and pyrosequencing; eight, affected by ataxia and cognitive dysfunction, were also sequenced for the PRNP gene. One patient resulted to be heterozygous for the P102L mutation. Retrospectively, the clinical picture was consistent with a "classical" GSS phenotype. In conclusion, the screening for the P102L mutation, or even the sequencing of the PRNP gene should be taken in consideration in patients with late-onset ataxia (>50 years).
Cagnoli
Claudia
C
Department of Genetics, Biology and Biochemistry, University of Torino, Medical Genetics Unit, Az. Osp. San Giovanni Battista, Torino, Italy.
Brussino
Alessandro
A
Sbaiz
Luca
L
Di Gregorio
Eleonora
E
Atzori
Cristiana
C
Caroppo
Paola
P
Orsi
Laura
L
Migone
Nicola
N
Buffa
Carlo
C
Imperiale
Daniele
D
Brusco
Alfredo
A
D000328:Adult; D017668:Age of Onset; D000368:Aged; D002524:Cerebellar Ataxia / Q000453:epidemiology / Q000209:etiology*; D005260:Female; D005820:Genetic Testing; D016098:Gerstmann-Straussler-Scheinker Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D017354:Point Mutation; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*
C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions