Portal de Periódicos da CAPES

Frequency of the <i>LRRK2 </i>G2019S Mutation in Siblings with Parkinson’s Disease

2007; Karger Publishers; Volume: 4; Issue: 2-3 Linguagem: Inglês

10.1159/000101844

1660-2862

Suzanne Lesage, Laurence Leclere, Ebba Lohmann, Michel Borg, Merle Ruberg, Alexandra Dürr, Alexis Brice,

Ginkgo biloba and Cashew Applications

<i>Background:</i> Mutations in the <i>LRRK2 </i>gene, the most frequent of which is the G2019S mutation in exon 41, cause familial and sporadic Parkinson’s disease (PD) with reduced penetrance. <i>Objectives:</i> To assess the frequency of the <i>LRRK2 </i>G2019S mutation in families thought to have autosomal recessive PD (siblings but not their parents were affected) and to determine the clinical features of <i>LRRK2</i> mutation carriers. <i>Methods:</i> We sequenced both strands of exon 41 of the <i>LRKK2</i> gene in 90 index cases from French and North African families in which PD might have been inherited as a recessive trait. Patients with mutations underwent detailed clinical evaluations. <i>Results:</i> We found heterozygous G2019S mutations in 1 Algerian and 1 French family (overall relative frequency = 2.2%). Four <i>LRRK2</i>-positive patients had typical PD, but their Mini Mental State Examination (MMSE) scores were lower than those of patients without this mutation. <i>Conclusion:</i> The <i>LRRK2</i> G2019S mutation is as frequent in families with possible autosomal recessive PD (2.2%) as in the sporadic cases published elsewhere (1.9%). The clinical features in the <i>LRRK2</i>-positive patients were those of typical PD, except for lower MMSE scores.