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 |
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Keywords
- Ataxia
- Dementia
- Gerstmann-Sträussler-Scheinker syndrome
- Prion disease
- PRNP
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by Prnp gene analysis in patients with adult-onset ataxia. / Cagnoli, Claudia; Brussino, Alessandro; Sbaiz, Luca; Di Gregorio, Eleonora; Atzori, Cristiana; Caroppo, Paola; Orsi, Laura; Migone, Nicola; Buffa, Carlo; Imperiale, Daniele; Brusco, Alfredo.
In: Movement Disorders, Vol. 23, No. 10, 30.07.2008, p. 1468-1471.Research output: Contribution to journal › Article
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TY - JOUR
T1 - A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by Prnp gene analysis in patients with adult-onset ataxia
AU - Cagnoli, Claudia
AU - Brussino, Alessandro
AU - Sbaiz, Luca
AU - Di Gregorio, Eleonora
AU - Atzori, Cristiana
AU - Caroppo, Paola
AU - Orsi, Laura
AU - Migone, Nicola
AU - Buffa, Carlo
AU - Imperiale, Daniele
AU - Brusco, Alfredo
PY - 2008/7/30
Y1 - 2008/7/30
N2 - 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.
AB - 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.
KW - Ataxia
KW - Dementia
KW - Gerstmann-Sträussler-Scheinker syndrome
KW - Prion disease
KW - PRNP
UR - http://www.scopus.com/inward/record.url?scp=52649109806&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=52649109806&partnerID=8YFLogxK
U2 - 10.1002/mds.21953
DO - 10.1002/mds.21953
M3 - Article
C2 - 18566986
AN - SCOPUS:52649109806
VL - 23
SP - 1468
EP - 1471
JO - Movement Disorders
JF - Movement Disorders
SN - 0885-3185
IS - 10
ER -