A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by Prnp gene analysis in patients with adult-onset ataxia

Claudia Cagnoli; Alessandro Brussino; Luca Sbaiz; Eleonora Di Gregorio; Cristiana Atzori; Paola Caroppo; Laura Orsi; Nicola Migone; Carlo Buffa; Daniele Imperiale; Alfredo Brusco

doi:10.1002/mds.21953

A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by Prnp gene analysis in patients with adult-onset ataxia

Claudia Cagnoli, Alessandro Brussino, Luca Sbaiz, Eleonora Di Gregorio, Cristiana Atzori, Paola Caroppo, Laura Orsi, Nicola Migone, Carlo Buffa, Daniele Imperiale, Alfredo Brusco

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article

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	https://doi.org/10.1002/mds.21953
Publication status	Published - Jul 30 2008

Keywords

Ataxia
Dementia
Gerstmann-Sträussler-Scheinker syndrome
Prion disease
PRNP

ASJC Scopus subject areas

Clinical Neurology
Neurology

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Cagnoli, C., Brussino, A., Sbaiz, L., Di Gregorio, E., Atzori, C., Caroppo, P., Orsi, L., Migone, N., Buffa, C., Imperiale, D., & Brusco, A. (2008). A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by Prnp gene analysis in patients with adult-onset ataxia. Movement Disorders, 23(10), 1468-1471. https://doi.org/10.1002/mds.21953

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

Cagnoli, Claudia ; Brussino, Alessandro ; Sbaiz, Luca ; Di Gregorio, Eleonora ; Atzori, Cristiana ; Caroppo, Paola ; Orsi, Laura ; Migone, Nicola ; Buffa, Carlo ; Imperiale, Daniele ; Brusco, Alfredo. / A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by Prnp gene analysis in patients with adult-onset ataxia. In: Movement Disorders. 2008 ; Vol. 23, No. 10. pp. 1468-1471.

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