Amish, Mennonite, and Hutterite
Genetic Disorder Database

Parkinson disease

Disorder
OMIM #: #616361  (Click to access OMIM database)
Disorder: Parkinson disease 
Also known as: Parkinson disease-21 (PARK21) 
Clinical
Phenotype: Late-onset asymmetric parkinsonism with a combination of tremor, rigidity,and bradykinesia, Lewy Body disease, good response to levodopa 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks: autosomal dominant 
Mutations
1   Old Order Mennonite  
Gene: DNAJC13
Base Change: A>G, at nucleotide 2564
Amino Acid Change: asn 855 --> ser
Last updated: 2015-11-20 

References
Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza AI, Labbe C, Walton RL, Strongosky AJ, van Gerpen JA, Uitti RJ, McLean PJ, Springer W, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, McCarthy A, Lynch T, Puschmann A, Rektorova I, Sanotsky Y, Vilariño-Güell C, Farrer, MJ et al. (2015) DNAJC13 p.Asn855Ser mutation screening in Parkinsons disease and pathologically confirmed Lewy body disease patients. Eur J Neurol Sep;22(9):1323-5.
PubMed ID: 26278106 
Rajput A, Ross JP, Bernales CQ, Rayaprolu S, Soto-Ortolaza AI, Ross OA, van Gerpen J, Uitti RJ, Wszolek ZK, Rajput AH, Vilariño-Güell C. (2015) DNAJC13 genetic variants in parkinsonism. Mov Disord Feb;30(2):273-8.
PubMed ID: 25393719 
Vilariño-Güell C, Rajput A, Milnerwood AJ, Shah B, Szu-Tu C, Trinh J, Yu I, Encarnacion M, Munsie LN, Tapia L, Gustavsson EK, Chou P, Tatarnikov I, Evans DM, Pishotta FT, Volta M, Beccano-Kelly D, Thompson C, Lin MK, Sherman HE, Han HJ, Guenther BL, Wasserman WW, Bernard V, Ross CJ, Appel-Cr. (2014) DNAJC13 mutations in Parkinson disease. Hum. Mol. Genet 23(7):1794-801.
PubMed ID: 24218364 

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