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Autosomal recessive degenerative and progressive cerebellar ataxia

MedGen UID:
1842627
•Concept ID:
C5681515
•
Disease or Syndrome
Synonym: autosomal recessive degenerative and progressive cerebellar ataxia
 
Monarch Initiative: MONDO:0020046
Orphanet: ORPHA98098

Professional guidelines

PubMed

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
Neurogenetics 2010 Feb;11(1):1-12. Epub 2009 May 14 doi: 10.1007/s10048-009-0196-y. PMID: 19440741

Recent clinical studies

Etiology

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.
Arslan EA, Öncel İ, Ceylan AC, Topçu M, Topaloğlu H
Brain Dev 2020 Jan;42(1):6-18. Epub 2019 Sep 4 doi: 10.1016/j.braindev.2019.08.004. PMID: 31493945
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
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I; SYNAPSE Study Group, Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H
Am J Hum Genet 2017 Jun 1;100(6):969-977. doi: 10.1016/j.ajhg.2017.05.009. PMID: 28575651Free PMC Article
Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders.
Berciano J, García A, Infante J
Handb Clin Neurol 2013;115:907-32. doi: 10.1016/B978-0-444-52902-2.00051-5. PMID: 23931821
Parkinsonism & related disorders. Ataxias.
Klockgether T
Parkinsonism Relat Disord 2007;13 Suppl 3:S391-4. doi: 10.1016/S1353-8020(08)70036-1. PMID: 18267270

Diagnosis

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.
Arslan EA, Öncel İ, Ceylan AC, Topçu M, Topaloğlu H
Brain Dev 2020 Jan;42(1):6-18. Epub 2019 Sep 4 doi: 10.1016/j.braindev.2019.08.004. PMID: 31493945
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schüle R, Züchner S, De Jonghe P, Schenck A, van de Warrenburg BP
Brain 2018 Sep 1;141(9):2592-2604. doi: 10.1093/brain/awy198. PMID: 30084953Free PMC Article
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I; SYNAPSE Study Group, Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H
Am J Hum Genet 2017 Jun 1;100(6):969-977. doi: 10.1016/j.ajhg.2017.05.009. PMID: 28575651Free PMC Article
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
Neurogenetics 2010 Feb;11(1):1-12. Epub 2009 May 14 doi: 10.1007/s10048-009-0196-y. PMID: 19440741
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

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

Prognosis

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.
Arslan EA, Öncel İ, Ceylan AC, Topçu M, Topaloğlu H
Brain Dev 2020 Jan;42(1):6-18. Epub 2019 Sep 4 doi: 10.1016/j.braindev.2019.08.004. PMID: 31493945
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
Neurogenetics 2010 Feb;11(1):1-12. Epub 2009 May 14 doi: 10.1007/s10048-009-0196-y. PMID: 19440741

Clinical prediction guides

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.
Arslan EA, Öncel İ, Ceylan AC, Topçu M, Topaloğlu H
Brain Dev 2020 Jan;42(1):6-18. Epub 2019 Sep 4 doi: 10.1016/j.braindev.2019.08.004. PMID: 31493945
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I; SYNAPSE Study Group, Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H
Am J Hum Genet 2017 Jun 1;100(6):969-977. doi: 10.1016/j.ajhg.2017.05.009. PMID: 28575651Free PMC Article
Genetic and pharmacological evidence implicates cathepsins in Niemann-Pick C cerebellar degeneration.
Chung C, Puthanveetil P, Ory DS, Lieberman AP
Hum Mol Genet 2016 Apr 1;25(7):1434-46. Epub 2016 Jan 28 doi: 10.1093/hmg/ddw025. PMID: 26908626Free PMC Article
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
Neurogenetics 2010 Feb;11(1):1-12. Epub 2009 May 14 doi: 10.1007/s10048-009-0196-y. PMID: 19440741
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

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