Article
R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation.
Movement disorders : official journal of the Movement Disorder Society - 15 Jan 2007
Nichols William C, Marek Diane K, Pauciulo Michael W, Pankratz Nathan, Halter Cheryl A, Rudolph Alice, Shults Clifford W, Wojcieszek Joanne, Foroud Tatiana
Abstract excerpt
Mutations in LRRK2 were first reported as causing Parkinson's disease (PD) in late 2004. Since then, approximately a dozen LRRK2 substitutions have been identified that are believed to be pathogenic mutations. The substitution of adenine for guanine at nucleotide 4541 (4541G>A) in LRRK2 was recently reported. This substitution resulted in the replacement of an arginine at position 1514 with a glutamine (R1514Q)....
Topics
- Adenine Nucleotide Translocator 1
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Amino Acid Substitution
- Arginine
- Carrier Proteins
- Diagnosis, Differential
- Female