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A previously undiagnosed case of Gerstmann‐Sträussler‐Scheinker disease revealed by PRNP gene analysis in patients with adult‐onset ataxia
Author(s) -
Cagnoli Claudia,
Brussino Alessandro,
Sbaiz Luca,
Di Gregorio Eleonora,
Atzori Cristiana,
Caroppo Paola,
Orsi Laura,
Migone Nicola,
Buffa Carlo,
Imperiale Daniele,
Brusco Alfredo
Publication year - 2008
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21953
Subject(s) - prnp , ataxia , disease , degenerative disease , medicine , pathology , prion protein , psychiatry
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). © 2008 Movement Disorder Society