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Autosomal recessive metabolic cerebellar ataxia

MedGen UID:
1842756
•Concept ID:
C5681517
•
Disease or Syndrome
Synonym: autosomal recessive metabolic cerebellar ataxia
 
Monarch Initiative: MONDO:0020044
Orphanet: ORPHA98096

Professional guidelines

PubMed

Treatment and Management of Autosomal Recessive Cerebellar Ataxias: Current Advances and Future Perspectives.
Salem IH, Beaudin M, Klein CJ, Dupré N
CNS Neurol Disord Drug Targets 2023;22(5):678-697. doi: 10.2174/1871527321666220418114846. PMID: 35440322
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
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article

Recent clinical studies

Etiology

Autosomal recessive adult onset ataxia.
Dragašević-Mišković N, Stanković I, Milovanović A, Kostić VS
J Neurol 2022 Jan;269(1):504-533. Epub 2021 Sep 9 doi: 10.1007/s00415-021-10763-8. PMID: 34499204
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
Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease.
Dumitrache LC, McKinnon PJ
Mech Ageing Dev 2017 Jan;161(Pt A):121-129. Epub 2016 Apr 26 doi: 10.1016/j.mad.2016.04.009. PMID: 27125728Free PMC Article
Niemann-Pick diseases.
Vanier MT
Handb Clin Neurol 2013;113:1717-21. doi: 10.1016/B978-0-444-59565-2.00041-1. PMID: 23622394
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D
Hum Mol Genet 1999 Jan;8(1):69-79. doi: 10.1093/hmg/8.1.69. PMID: 9887333

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
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article
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
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Therapy

Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies.
Synofzik M, Puccio H, Mochel F, Schöls L
Neuron 2019 Feb 20;101(4):560-583. doi: 10.1016/j.neuron.2019.01.049. PMID: 30790538
Current and Promising Therapies in Autosomal Recessive Ataxias.
Picher-Martel V, Dupre N
CNS Neurol Disord Drug Targets 2018;17(3):161-171. doi: 10.2174/1871527317666180419115029. PMID: 29676235
Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis.
Giardino G, Fusco A, Romano R, Gallo V, Maio F, Esposito T, Palamaro L, Parenti G, Salerno MC, Vajro P, Pignata C
Eur J Neurol 2013 May;20(5):740-7. Epub 2012 Nov 4 doi: 10.1111/ene.12024. PMID: 23121321
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, Hirano M
Neurology 2005 Feb 8;64(3):539-41. doi: 10.1212/01.WNL.0000150588.75281.58. PMID: 15699391

Prognosis

Autosomal recessive adult onset ataxia.
Dragašević-Mišković N, Stanković I, Milovanović A, Kostić VS
J Neurol 2022 Jan;269(1):504-533. Epub 2021 Sep 9 doi: 10.1007/s00415-021-10763-8. PMID: 34499204
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
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
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

ATM loss disrupts the autophagy-lysosomal pathway.
Cheng A, Tse KH, Chow HM, Gan Y, Song X, Ma F, Qian YXY, She W, Herrup K
Autophagy 2021 Aug;17(8):1998-2010. Epub 2020 Aug 14 doi: 10.1080/15548627.2020.1805860. PMID: 32757690Free PMC Article
Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis.
Giardino G, Fusco A, Romano R, Gallo V, Maio F, Esposito T, Palamaro L, Parenti G, Salerno MC, Vajro P, Pignata C
Eur J Neurol 2013 May;20(5):740-7. Epub 2012 Nov 4 doi: 10.1111/ene.12024. PMID: 23121321
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
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
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D
Hum Mol Genet 1999 Jan;8(1):69-79. doi: 10.1093/hmg/8.1.69. PMID: 9887333

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
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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