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

Movement Disorders : Official Journal of the Movement Disorder Society
Roberta MarongiuItalian PD Study Group

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.

References

Feb 1, 2005·Lancet·William C NicholsUNKNOWN Parkinson Study Group-PROGENI investigators
Feb 1, 2005·Lancet·Alessio Di FonzoUNKNOWN Italian Parkinson Genetics Network
Feb 1, 2005·Lancet·William P GilksNicholas W Wood
Apr 27, 2005·Annals of Neurology·Jan O AaslyMatthew Farrer
Jul 9, 2005·Current Opinion in Neurology·Thomas Gasser
Sep 9, 2005·American Journal of Human Genetics·Suzanne LesageUNKNOWN French Parkinson's Disease Genetics Study Group
Sep 15, 2005·Neurology·M FarrerD M Maraganore

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Citations

Sep 17, 2009·Journal of Neural Transmission·Avner ThalerNir Giladi
Mar 23, 2012·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Alessandro StefaniFrancesco Saverio Pastore
Sep 12, 2007·Cellular and Molecular Neurobiology·Andrea TeddeSandro Sorbi
Sep 21, 2007·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·K KalinderiA Kotsis
Jul 11, 2007·Current Opinion in Neurology·Christine Klein, Katja Lohmann-Hedrich
May 28, 2009·Human Mutation·Coro Paisán-Ruiz
Apr 13, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Yue HuangCarolyn M Sue
Oct 21, 2011·Physiological Reviews·Olga CortiAlexis Brice
Jul 15, 2011·Parkinsonism & Related Disorders·Douglas E Hobson

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