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Olivopontocerebellar atrophy II, autosomal recessive

MedGen UID:
376758
•Concept ID:
C1850319
•
Disease or Syndrome
Synonyms: Olivopontocerebellar Atrophy II, Autosomal Recessive; OPCA II, Fickler-Winkler Type
 
Monarch Initiative: MONDO:0009778
OMIM®: 258300

Professional guidelines

PubMed

Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
Clinical diagnosis and genetic counseling of atypical ataxia‑telangiectasia in a Chinese family.
Cao J, Shen R, Zhang W, Mao B, Shi Q, Zhou R, Liu Z, Zeng B, Chen X, Zhang C, Lu M, Han P, Wu J, Zhou A, Tan X
Mol Med Rep 2019 May;19(5):3441-3448. Epub 2019 Feb 27 doi: 10.3892/mmr.2019.9992. PMID: 30816533Free PMC Article
Current concepts in the treatment of hereditary ataxias.
Braga Neto P, Pedroso JL, Kuo SH, Marcondes Junior CF, Teive HA, Barsottini OG
Arq Neuropsiquiatr 2016 Mar;74(3):244-52. doi: 10.1590/0004-282X20160038. PMID: 27050855Free PMC Article

Recent clinical studies

Etiology

Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
Recessive ataxias.
Synofzik M, Németh AH
Handb Clin Neurol 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. PMID: 29891078
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Hereditary ataxias: overview.
Jayadev S, Bird TD
Genet Med 2013 Sep;15(9):673-83. Epub 2013 Mar 28 doi: 10.1038/gim.2013.28. PMID: 23538602
Hereditary ataxias.
Evidente VG, Gwinn-Hardy KA, Caviness JN, Gilman S
Mayo Clin Proc 2000 May;75(5):475-90. doi: 10.4065/75.5.475. PMID: 10807077

Diagnosis

Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
Ataxia-telangiectasia: A review of clinical features and molecular pathology.
Amirifar P, Ranjouri MR, Yazdani R, Abolhassani H, Aghamohammadi A
Pediatr Allergy Immunol 2019 May;30(3):277-288. Epub 2019 Mar 20 doi: 10.1111/pai.13020. PMID: 30685876
Recessive ataxias.
Synofzik M, Németh AH
Handb Clin Neurol 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. PMID: 29891078
Spastic ataxias.
Bereznyakova O, Dupré N
Handb Clin Neurol 2018;155:191-203. doi: 10.1016/B978-0-444-64189-2.00012-3. PMID: 29891058
Ataxia telangiectasia: a review.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article

Therapy

Ataxia-telangiectasia clinical trial landscape and the obstacles to overcome.
Kuhn K, Lederman HM, McGrath-Morrow SA
Expert Opin Investig Drugs 2023 Jul-Dec;32(8):693-704. Epub 2023 Aug 28 doi: 10.1080/13543784.2023.2249399. PMID: 37622329Free PMC Article
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Traschütz A, Adarmes-Gómez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hanağası HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, Münchau A, Renaud M, Santorelli FM, Schöls L, Thieme A, Vielhaber S, van de Warrenburg BP, Zanni G, Hilgers RD; PREPARE Consortium, Synofzik M
Ann Neurol 2023 Sep;94(3):470-485. Epub 2023 Jun 12 doi: 10.1002/ana.26712. PMID: 37243847
Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Bourcier D, Bélanger M, Côté I, Brais B, Synofzik M, Brisson JD, Rodrigue X, Gagnon MM, Mathieu J, Gagnon C
J Neurol Sci 2020 Oct 15;417:117050. Epub 2020 Jul 18 doi: 10.1016/j.jns.2020.117050. PMID: 32736199
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F
Parkinsonism Relat Disord 2011 Jul;17(6):418-22. Epub 2011 Mar 30 doi: 10.1016/j.parkreldis.2011.03.005. PMID: 21450511
The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.
Zlotogora J
Hum Genet 2010 Nov;128(5):473-9. Epub 2010 Sep 18 doi: 10.1007/s00439-010-0890-8. PMID: 20852892

Prognosis

Genetic ataxias: update on classification and diagnostic approaches.
Witek N, Hawkins J, Hall D
Curr Neurol Neurosci Rep 2021 Feb 26;21(3):13. doi: 10.1007/s11910-021-01092-4. PMID: 33638050
Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
Ataxia telangiectasia: a review.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article
Ataxia telangiectasia.
Nissenkorn A, Ben-Zeev B
Handb Clin Neurol 2015;132:199-214. doi: 10.1016/B978-0-444-62702-5.00014-7. PMID: 26564081
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article

Clinical prediction guides

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
Bagaria J, Bagyinszky E, An SSA
Int J Mol Sci 2022 Jan 4;23(1) doi: 10.3390/ijms23010552. PMID: 35008978Free PMC Article
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.
de Freitas JL, Rezende Filho FM, Sallum JMF, França MC Jr, Pedroso JL, Barsottini OGP
J Neurol Sci 2020 Feb 15;409:116620. Epub 2019 Dec 6 doi: 10.1016/j.jns.2019.116620. PMID: 31865189
More than ataxia - Movement disorders in ataxia-telangiectasia.
Teive HAG, Camargo CHF, Munhoz RP
Parkinsonism Relat Disord 2018 Jan;46:3-8. Epub 2017 Dec 12 doi: 10.1016/j.parkreldis.2017.12.009. PMID: 29249681
Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.
Synofzik M, Schüle R
Mov Disord 2017 Mar;32(3):332-345. Epub 2017 Feb 14 doi: 10.1002/mds.26944. PMID: 28195350Free PMC Article
Clinical nosologic and genetic aspects of Joubert and related syndromes.
Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB
J Child Neurol 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007. PMID: 10511339

Recent systematic reviews

The natural history of ataxia-telangiectasia (A-T): A systematic review.
Petley E, Yule A, Alexander S, Ojha S, Whitehouse WP
PLoS One 2022;17(3):e0264177. Epub 2022 Mar 15 doi: 10.1371/journal.pone.0264177. PMID: 35290391Free PMC Article
Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.
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
Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA
Clin Genet 2016 Aug;90(2):105-17. Epub 2016 Jan 20 doi: 10.1111/cge.12710. PMID: 26662178
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Characterising the neuropathology and neurobehavioural phenotype in Friedreich ataxia: a systematic review.
Corben LA, Georgiou-Karistianis N, Bradshaw JL, Evans-Galea MV, Churchyard AJ, Delatycki MB
Adv Exp Med Biol 2012;769:169-84. doi: 10.1007/978-1-4614-5434-2_11. PMID: 23560311

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