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Ataxia-tapetoretinal degeneration syndrome

MedGen UID:
336461
•Concept ID:
C1848932
•
Disease or Syndrome
Synonym: Tapetoretinal degeneration with ataxia
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010095
OMIM®: 272600
Orphanet: ORPHA1178

Definition

A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtaxia-tapetoretinal degeneration syndrome
Follow this link to review classifications for Ataxia-tapetoretinal degeneration syndrome in Orphanet.

Professional guidelines

PubMed

Acute cerebellar ataxia: differential diagnosis and clinical approach.
Pedroso JL, Vale TC, Braga-Neto P, Dutra LA, França MC Jr, Teive HAG, Barsottini OGP
Arq Neuropsiquiatr 2019 Mar;77(3):184-193. doi: 10.1590/0004-282X20190020. PMID: 30970132
Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria.
Höglinger GU, Respondek G, Stamelou M, Kurz C, Josephs KA, Lang AE, Mollenhauer B, Müller U, Nilsson C, Whitwell JL, Arzberger T, Englund E, Gelpi E, Giese A, Irwin DJ, Meissner WG, Pantelyat A, Rajput A, van Swieten JC, Troakes C, Antonini A, Bhatia KP, Bordelon Y, Compta Y, Corvol JC, Colosimo C, Dickson DW, Dodel R, Ferguson L, Grossman M, Kassubek J, Krismer F, Levin J, Lorenzl S, Morris HR, Nestor P, Oertel WH, Poewe W, Rabinovici G, Rowe JB, Schellenberg GD, Seppi K, van Eimeren T, Wenning GK, Boxer AL, Golbe LI, Litvan I; Movement Disorder Society-endorsed PSP Study Group
Mov Disord 2017 Jun;32(6):853-864. Epub 2017 May 3 doi: 10.1002/mds.26987. PMID: 28467028Free PMC Article
The Differential Diagnosis and Treatment of Atypical Parkinsonism.
Levin J, Kurz A, Arzberger T, Giese A, Höglinger GU
Dtsch Arztebl Int 2016 Feb 5;113(5):61-9. doi: 10.3238/arztebl.2016.0061. PMID: 26900156Free PMC Article

Recent clinical studies

Etiology

Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations.
Boeve BF, Boxer AL, Kumfor F, Pijnenburg Y, Rohrer JD
Lancet Neurol 2022 Mar;21(3):258-272. doi: 10.1016/S1474-4422(21)00341-0. PMID: 35182511
Immune-mediated ataxias.
Joubert B, Rostásy K, Honnorat J
Handb Clin Neurol 2018;155:313-332. doi: 10.1016/B978-0-444-64189-2.00021-4. PMID: 29891069
A clinicopathological approach to the diagnosis of dementia.
Elahi FM, Miller BL
Nat Rev Neurol 2017 Aug;13(8):457-476. Epub 2017 Jul 14 doi: 10.1038/nrneurol.2017.96. PMID: 28708131Free PMC Article
Neurological and spinal manifestations of the Ehlers-Danlos syndromes.
Henderson FC Sr, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):195-211. Epub 2017 Feb 21 doi: 10.1002/ajmg.c.31549. PMID: 28220607
Spinocerebellar degenerations.
Perlman SL
Handb Clin Neurol 2011;100:113-40. doi: 10.1016/B978-0-444-52014-2.00006-9. PMID: 21496573

Diagnosis

Text Neck Syndrome: Disentangling a New Epidemic.
Tsantili AR, Chrysikos D, Troupis T
Acta Med Acad 2022 Aug;51(2):123-127. doi: 10.5644/ama2006-124.380. PMID: 36318004Free PMC Article
Amyotrophic lateral sclerosis mimics.
Kwan J, Vullaganti M
Muscle Nerve 2022 Sep;66(3):240-252. Epub 2022 May 24 doi: 10.1002/mus.27567. PMID: 35607838
Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations.
Boeve BF, Boxer AL, Kumfor F, Pijnenburg Y, Rohrer JD
Lancet Neurol 2022 Mar;21(3):258-272. doi: 10.1016/S1474-4422(21)00341-0. PMID: 35182511
Sagging eye syndrome.
Goseki T
Jpn J Ophthalmol 2021 Jul;65(4):448-453. Epub 2021 May 20 doi: 10.1007/s10384-021-00839-3. PMID: 34014448
Frontotemporal dementia.
Miller B, Llibre Guerra JJ
Handb Clin Neurol 2019;165:33-45. doi: 10.1016/B978-0-444-64012-3.00003-4. PMID: 31727221

Therapy

Frontotemporal dementia.
Miller B, Llibre Guerra JJ
Handb Clin Neurol 2019;165:33-45. doi: 10.1016/B978-0-444-64012-3.00003-4. PMID: 31727221
(18)F-FDG PET in Parkinsonism: Differential Diagnosis and Evaluation of Cognitive Impairment.
Meyer PT, Frings L, Rücker G, Hellwig S
J Nucl Med 2017 Dec;58(12):1888-1898. Epub 2017 Sep 14 doi: 10.2967/jnumed.116.186403. PMID: 28912150
Excitotoxicity and stroke: identifying novel targets for neuroprotection.
Lai TW, Zhang S, Wang YT
Prog Neurobiol 2014 Apr;115:157-88. Epub 2013 Dec 17 doi: 10.1016/j.pneurobio.2013.11.006. PMID: 24361499
Mitochondrial dysfunction and sarcopenia of aging: from signaling pathways to clinical trials.
Marzetti E, Calvani R, Cesari M, Buford TW, Lorenzi M, Behnke BJ, Leeuwenburgh C
Int J Biochem Cell Biol 2013 Oct;45(10):2288-301. Epub 2013 Jul 8 doi: 10.1016/j.biocel.2013.06.024. PMID: 23845738Free PMC Article
Post-polio syndrome and rehabilitation.
Tiffreau V, Rapin A, Serafi R, Percebois-Macadré L, Supper C, Jolly D, Boyer FC
Ann Phys Rehabil Med 2010 Feb;53(1):42-50. Epub 2009 Dec 30 doi: 10.1016/j.rehab.2009.11.007. PMID: 20044320

Prognosis

Amyotrophic lateral sclerosis mimics.
Kwan J, Vullaganti M
Muscle Nerve 2022 Sep;66(3):240-252. Epub 2022 May 24 doi: 10.1002/mus.27567. PMID: 35607838
Paraneoplastic syndromes in ophthalmology.
Parrado-Carrillo A, Alcubierre R, Camós-Carreras A, Sanchez-Dalmau BF
Arch Soc Esp Oftalmol (Engl Ed) 2022 Jun;97(6):350-357. Epub 2022 Mar 12 doi: 10.1016/j.oftale.2022.03.006. PMID: 35292226
Corticobasal degeneration.
Grijalvo-Perez AM, Litvan I
Semin Neurol 2014 Apr;34(2):160-73. Epub 2014 Jun 25 doi: 10.1055/s-0034-1381734. PMID: 24963675
Neuroacanthocytosis syndromes.
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Lacunar infarct.
Lastilla M
Clin Exp Hypertens 2006 Apr-May;28(3-4):205-15. doi: 10.1080/10641960600549082. PMID: 16833026

Clinical prediction guides

Plasma phosphorylated tau 217 and phosphorylated tau 181 as biomarkers in Alzheimer's disease and frontotemporal lobar degeneration: a retrospective diagnostic performance study.
Thijssen EH, La Joie R, Strom A, Fonseca C, Iaccarino L, Wolf A, Spina S, Allen IE, Cobigo Y, Heuer H, VandeVrede L, Proctor NK, Lago AL, Baker S, Sivasankaran R, Kieloch A, Kinhikar A, Yu L, Valentin MA, Jeromin A, Zetterberg H, Hansson O, Mattsson-Carlgren N, Graham D, Blennow K, Kramer JH, Grinberg LT, Seeley WW, Rosen H, Boeve BF, Miller BL, Teunissen CE, Rabinovici GD, Rojas JC, Dage JL, Boxer AL; Advancing Research and Treatment for Frontotemporal Lobar Degeneration investigators
Lancet Neurol 2021 Sep;20(9):739-752. doi: 10.1016/S1474-4422(21)00214-3. PMID: 34418401Free PMC Article
The Shaggy Aorta Syndrome: An Updated Review.
Serra R, Bracale UM, Jiritano F, Ielapi N, Licastro N, Provenzano M, Andreucci M, Pingitore A, de Franciscis S, Mastroroberto P, Serraino GF
Ann Vasc Surg 2021 Jan;70:528-541. Epub 2020 Aug 13 doi: 10.1016/j.avsg.2020.08.009. PMID: 32800889
A clinicopathological approach to the diagnosis of dementia.
Elahi FM, Miller BL
Nat Rev Neurol 2017 Aug;13(8):457-476. Epub 2017 Jul 14 doi: 10.1038/nrneurol.2017.96. PMID: 28708131Free PMC Article
Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis.
Nouri A, Tetreault L, Singh A, Karadimas SK, Fehlings MG
Spine (Phila Pa 1976) 2015 Jun 15;40(12):E675-93. doi: 10.1097/BRS.0000000000000913. PMID: 25839387
Symptomatic myoclonus.
Borg M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):309-18. Epub 2007 Jan 17 doi: 10.1016/j.neucli.2006.12.006. PMID: 17336775

Recent systematic reviews

A systematic review and bibliometric study of Bertolotti's syndrome: clinical characteristics and global trends.
Zhu W, Ding X, Zheng J, Zeng F, Zhang F, Wu X, Sun Y, Ma J, Yin M
Int J Surg 2023 Oct 1;109(10):3159-3168. doi: 10.1097/JS9.0000000000000541. PMID: 37318877Free PMC Article
TFOS Lifestyle Report: Impact of environmental conditions on the ocular surface.
Alves M, Asbell P, Dogru M, Giannaccare G, Grau A, Gregory D, Kim DH, Marini MC, Ngo W, Nowinska A, Saldanha IJ, Villani E, Wakamatsu TH, Yu M, Stapleton F
Ocul Surf 2023 Jul;29:1-52. Epub 2023 Apr 14 doi: 10.1016/j.jtos.2023.04.007. PMID: 37062427
Appraising the causal role of smoking in multiple diseases: A systematic review and meta-analysis of Mendelian randomization studies.
Larsson SC, Burgess S
EBioMedicine 2022 Aug;82:104154. Epub 2022 Jul 8 doi: 10.1016/j.ebiom.2022.104154. PMID: 35816897Free PMC Article
Gut dysbiosis in rheumatic diseases: A systematic review and meta-analysis of 92 observational studies.
Wang Y, Wei J, Zhang W, Doherty M, Zhang Y, Xie H, Li W, Wang N, Lei G, Zeng C
EBioMedicine 2022 Jun;80:104055. Epub 2022 May 17 doi: 10.1016/j.ebiom.2022.104055. PMID: 35594658Free PMC Article
Vitamin D and Ocular Diseases: A Systematic Review.
Chan HN, Zhang XJ, Ling XT, Bui CH, Wang YM, Ip P, Chu WK, Chen LJ, Tham CC, Yam JC, Pang CP
Int J Mol Sci 2022 Apr 11;23(8) doi: 10.3390/ijms23084226. PMID: 35457041Free PMC Article

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