Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

Alberto Albanese, Anna Rita Bentivoglio, Tamara Ialongo, Francesco Soleti, Antonio Emanuele Elia, R Marongiu, Daniele Ghezzi, S Cavone, Maria Concetta Altavista, Paolo Barone, L Brusa, Pietro Cortelli, L Petrozzi, Cesa Scaglione, P Stanzione, Michele Tinazzi, M Zeviani, B Dallapiccola, Enza Maria Valente, B Garavaglia

Risultato della ricerca: Contributo in rivistaArticolo in rivista

21 Citazioni (Scopus)

Abstract

To evaluate the frequency of the LRRK2 G2019S mutation in Italy, we tested 1,072 probands with Parkinson's disease (PD; 822 sporadic and 250 familial): 20 patients (1.9%) carried the G2019S mutation, 11 patients (1.3%) were sporadic, and 9 (4.3%) had a positive family history. Considering only probands with autosomal dominant inheritance, the G2019S frequency raises to 5.2%. All presented a typical phenotype with variable onset and shared the common ancestral haplotype. Mutation frequency raised from 1.2% in early onset PD to 4.0% in late onset PD.
Lingua originaleEnglish
pagine (da-a)1232-1235
Numero di pagine4
RivistaMovement Disorders
Volume21
DOI
Stato di pubblicazionePubblicato - 2006

Keywords

  • Amino Acid Substitution
  • Female
  • Gene Frequency
  • Heterozygote Detection
  • Humans
  • Italy
  • Male
  • Mutation
  • Parkinson Disease
  • Phenotype
  • Protein-Serine-Threonine Kinases

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