Ataxia-telangiectasia serine/threonine kinase
| Disorder | |
|---|---|
| OMIM #: | *607585 (Click to access OMIM database) |
| Disorder: | Ataxia-telangiectasia serine/threonine kinase |
| Also known as: | |
| Clinical | |
| Phenotype: | early onset primary dystonia, absence of cerebellar atrophy on MRI, lack of frank ataxia, and absence of ocular telangiectasias at original presentation, lack of presence of prominent myoclonus-dystonia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | when homozygous it presents with very mild ataxia (not typical for AT) and late childhood onset dystonia and tremor |
| Mutations | |
| 1 Old Colony Mennonite, Unknown / Other Mennonite | |
| Gene: | ATM |
| Base Change: | C>A, at nucleotide 6200 |
| Amino Acid Change: | ala 206 --> asp |
| Last updated: | 2022-11-01 |
| References |
|---|
| Ganguly J, Bernaola MT, Goobie S, Prasad A, Jog M. (2021) Myoclonus-Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite. Mov Disord Clin Pract Dec 1;9(2):264-267. PubMed ID: 35146067 |
| Nakamura K, Fike F, Haghayegh S, Saunders-Pullman R, Dawson AJ, Dörk T, Gatti RA. (2014) A-T Winnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer,and life-threatening radiotoxicity. Mol Genet Genomic Med 2(4): 332–340. PubMed ID: 25077176 |
| Saunders-Pullman R, Raymond D, Stoessl AJ, Hobson D, Nakamura K, Pullman S, Lefton D, Okun MS, Uitti R, Sachdev R, Stanley K, San Luciano M, Hagenah J, Gatti R, Ozelius LJ, Bressman SB. (2012) Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology Feb 28;78(9):649-57. PubMed ID: 22345219 |
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