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Ataxia - telangiectasia variant

MedGen UID:
406286
Concept ID:
C1876175
Disease or Syndrome
Synonym: Ataxia-telangiectasia variant
SNOMED CT: Ataxia telangiectasia variant (763065008); v-AT - ataxia telangiectasia variant (763065008)
 
Monarch Initiative: MONDO:0018266
OMIM®: 208900; 607585
Orphanet: ORPHA370109

Definition

A rare genetic persistent combined dystonia with characteristics of clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present with extrapyramidal signs, such as resting tremor, choreoathetosis and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtaxia - telangiectasia variant

Professional guidelines

PubMed

Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE
Ann Neurol 2019 Feb;85(2):170-180. doi: 10.1002/ana.25394. PMID: 30549301Free PMC Article
van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group
Dev Med Child Neurol 2017 Jul;59(7):680-689. Epub 2017 Mar 20 doi: 10.1111/dmcn.13424. PMID: 28318010

Recent clinical studies

Etiology

Moeini Shad T, Yazdani R, Amirifar P, Delavari S, Heidarzadeh Arani M, Mahdaviani SA, Sadeghi-Shabestari M, Aghamohammadi A, Rezaei N, Abolhassani H
Front Immunol 2021;12:779502. Epub 2022 Jan 14 doi: 10.3389/fimmu.2021.779502. PMID: 35095854Free PMC Article
Bistritzer J, Mijalovsky A, Nissenkorn A, Flusser H, Levy J, Nahum A, Broides A
Eur J Paediatr Neurol 2021 May;32:36-39. Epub 2021 Mar 11 doi: 10.1016/j.ejpn.2021.03.008. PMID: 33743388
McDuff SGR, Bellon JR, Shannon KM, Gadd MA, Dunn S, Rosenstein BS, Ho AY
Int J Radiat Oncol Biol Phys 2021 Aug 1;110(5):1373-1382. Epub 2021 Feb 3 doi: 10.1016/j.ijrobp.2021.01.045. PMID: 33545302
Tiet MY, Horvath R, Hensiek AE
Pract Neurol 2020 Oct;20(5):404-414. doi: 10.1136/practneurol-2019-002253. PMID: 32958592
Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE
Ann Neurol 2019 Feb;85(2):170-180. doi: 10.1002/ana.25394. PMID: 30549301Free PMC Article

Diagnosis

Lampson BL, Gupta A, Tyekucheva S, Mashima K, Petráčková A, Wang Z, Wojciechowska N, Shaughnessy CJ, Baker PO, Fernandes SM, Shupe S, Machado JH, Fardoun R, Kim AS, Brown JR
J Clin Oncol 2023 Feb 10;41(5):1116-1128. Epub 2022 Oct 31 doi: 10.1200/JCO.22.00269. PMID: 36315919Free PMC Article
Blanchard-Rohner G, Peirolo A, Coulon L, Korff C, Horvath J, Burkhard PR, Gumy-Pause F, Ranza E, Jandus P, Dibra H, Taylor AMR, Fluss J
Front Immunol 2022;13:791522. Epub 2022 Jan 28 doi: 10.3389/fimmu.2022.791522. PMID: 35154108Free PMC Article
Moeini Shad T, Yazdani R, Amirifar P, Delavari S, Heidarzadeh Arani M, Mahdaviani SA, Sadeghi-Shabestari M, Aghamohammadi A, Rezaei N, Abolhassani H
Front Immunol 2021;12:779502. Epub 2022 Jan 14 doi: 10.3389/fimmu.2021.779502. PMID: 35095854Free PMC Article
Tiet MY, Horvath R, Hensiek AE
Pract Neurol 2020 Oct;20(5):404-414. doi: 10.1136/practneurol-2019-002253. PMID: 32958592
Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE
Ann Neurol 2019 Feb;85(2):170-180. doi: 10.1002/ana.25394. PMID: 30549301Free PMC Article

Therapy

Lampson BL, Gupta A, Tyekucheva S, Mashima K, Petráčková A, Wang Z, Wojciechowska N, Shaughnessy CJ, Baker PO, Fernandes SM, Shupe S, Machado JH, Fardoun R, Kim AS, Brown JR
J Clin Oncol 2023 Feb 10;41(5):1116-1128. Epub 2022 Oct 31 doi: 10.1200/JCO.22.00269. PMID: 36315919Free PMC Article
Bielorai B, Fisher T, Waldman D, Lerenthal Y, Nissenkorn A, Tohami T, Marek D, Amariglio N, Toren A
Pediatr Hematol Oncol 2013 Sep;30(6):574-82. Epub 2013 Mar 19 doi: 10.3109/08880018.2013.777949. PMID: 23509889

Prognosis

Bueno-Martínez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, Allen J, García-Álvarez A, Pérez-Segura P, Durán M, Easton DF, Devilee P, Vreeswijk MP, de la Hoya M, Velasco-Sampedro EA
J Pathol 2022 Sep;258(1):83-101. Epub 2022 Jul 15 doi: 10.1002/path.5979. PMID: 35716007Free PMC Article
Blanchard-Rohner G, Peirolo A, Coulon L, Korff C, Horvath J, Burkhard PR, Gumy-Pause F, Ranza E, Jandus P, Dibra H, Taylor AMR, Fluss J
Front Immunol 2022;13:791522. Epub 2022 Jan 28 doi: 10.3389/fimmu.2022.791522. PMID: 35154108Free PMC Article

Clinical prediction guides

Atkinson C, McInerney-Leo AM, Proctor M, Lanagan C, Stevenson AJ, Dehkhoda F, Caole M, Maas E, Ainger S, Pritchard AL, Johansson PA, Leo P, Hayward NK, Sturm RA, Duncan EL, Gabrielli B
Int J Mol Sci 2024 Jan 29;25(3) doi: 10.3390/ijms25031664. PMID: 38338943Free PMC Article
Bueno-Martínez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, Allen J, García-Álvarez A, Pérez-Segura P, Durán M, Easton DF, Devilee P, Vreeswijk MP, de la Hoya M, Velasco-Sampedro EA
J Pathol 2022 Sep;258(1):83-101. Epub 2022 Jul 15 doi: 10.1002/path.5979. PMID: 35716007Free PMC Article
Moeini Shad T, Yazdani R, Amirifar P, Delavari S, Heidarzadeh Arani M, Mahdaviani SA, Sadeghi-Shabestari M, Aghamohammadi A, Rezaei N, Abolhassani H
Front Immunol 2021;12:779502. Epub 2022 Jan 14 doi: 10.3389/fimmu.2021.779502. PMID: 35095854Free PMC Article
Saar K, Chrzanowska KH, Stumm M, Jung M, Nürnberg G, Wienker TF, Seemanová E, Wegner RD, Reis A, Sperling K
Am J Hum Genet 1997 Mar;60(3):605-10. PMID: 9042920Free PMC Article

Recent systematic reviews

Moeini Shad T, Yazdani R, Amirifar P, Delavari S, Heidarzadeh Arani M, Mahdaviani SA, Sadeghi-Shabestari M, Aghamohammadi A, Rezaei N, Abolhassani H
Front Immunol 2021;12:779502. Epub 2022 Jan 14 doi: 10.3389/fimmu.2021.779502. PMID: 35095854Free PMC Article

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