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

Research output: Contribution to journalArticle

6 Citations (Scopus)

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 languageEnglish
Pages (from-to)1468-1471
Number of pages4
JournalMovement Disorders
Volume23
Issue number10
DOIs
Publication statusPublished - Jul 30 2008

Fingerprint

Ataxia
Prion Diseases
Genes
Cerebellar Ataxia
Mutation
Inborn Genetic Diseases
DNA Restriction Enzymes
Digestion

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 journalArticle

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, vol. 23, no. 10, pp. 1468-1471. https://doi.org/10.1002/mds.21953
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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