Abstract
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, D202N, E200K, and V2101) 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.
Original language | English |
---|---|
Pages (from-to) | 1468-1471 |
Number of pages | 4 |
Journal | Movement Disorders |
Volume | 23 |
Issue number | 10 |
DOIs | |
Publication status | Published - Jul 30 2008 |
Keywords
- Ataxia
- Dementia
- Gerstmann-Sträussler-Scheinker syndrome
- Prion disease
- PRNP
ASJC Scopus subject areas
- Clinical Neurology
- Neurology