Lrrk2 pathogenic substitutions in Parkinson's disease

  title={Lrrk2 pathogenic substitutions in Parkinson's disease},
  author={Ignacio Fernandez Mata and Jennifer M. Kachergus and Julie P. Taylor and Sarah J. Lincoln and Jan O Aasly and Timothy Lynch and Mary M. Hulihan and Stephanie A. Cobb and R. Wu and C. S. Lu and Carlos Henrique Netto Lahoz and Zbigniew K Wszolek and Matthew John Farrer},
Leucine-rich repeat kinase 2 (LRRK2) mutations have been implicated in autosomal dominant parkinsonism, consistent with typical levodopa-responsive Parkinson's disease. The gene maps to chromosome 12q12 and encodes a large, multifunctional protein. To identify novel LRRK2 mutations, we have sequenced 100 affected probands with family history of parkinsonism. Semiquantitative analysis was also performed in all probands to identify LRRK2 genomic multiplication or deletion. In these kindreds… CONTINUE READING
Highly Influential
This paper has highly influenced 12 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS