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: | 2022-11-11 |
| 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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