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Parkinsonism due to ATP13A2 deficiency

MedGen UID:
830971
Concept ID:
CN203776
Disease or Syndrome
Synonyms: ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; parkinsonism due to ATP13A2 deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0017809
Orphanet: ORPHA314632

Definition

A rare neuronal ceroid lipofiscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon post mortem. [from ORDO]

Recent clinical studies

Etiology

van Veen S, Martin S, Van den Haute C, Benoy V, Lyons J, Vanhoutte R, Kahler JP, Decuypere JP, Gelders G, Lambie E, Zielich J, Swinnen JV, Annaert W, Agostinis P, Ghesquière B, Verhelst S, Baekelandt V, Eggermont J, Vangheluwe P
Nature 2020 Feb;578(7795):419-424. Epub 2020 Jan 29 doi: 10.1038/s41586-020-1968-7. PMID: 31996848
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H
Brain 2016 Jul;139(Pt 7):1904-18. Epub 2016 May 23 doi: 10.1093/brain/aww111. PMID: 27217339Free PMC Article
Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H
Neurosci Lett 2012 Aug 8;523(1):35-8. Epub 2012 Jun 25 doi: 10.1016/j.neulet.2012.06.036. PMID: 22743658Free PMC Article
Dusek P, Jankovic J, Le W
Neurobiol Dis 2012 Apr;46(1):1-18. Epub 2012 Jan 12 doi: 10.1016/j.nbd.2011.12.054. PMID: 22266337

Diagnosis

Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H
Brain 2016 Jul;139(Pt 7):1904-18. Epub 2016 May 23 doi: 10.1093/brain/aww111. PMID: 27217339Free PMC Article
Tsunemi T, Krainc D
Hum Mol Genet 2014 Jun 1;23(11):2791-801. Epub 2013 Dec 13 doi: 10.1093/hmg/ddt572. PMID: 24334770Free PMC Article
Dusek P, Jankovic J, Le W
Neurobiol Dis 2012 Apr;46(1):1-18. Epub 2012 Jan 12 doi: 10.1016/j.nbd.2011.12.054. PMID: 22266337

Prognosis

Park JS, Koentjoro B, Veivers D, Mackay-Sim A, Sue CM
Hum Mol Genet 2014 Jun 1;23(11):2802-15. Epub 2014 Jan 7 doi: 10.1093/hmg/ddt623. PMID: 24399444Free PMC Article
Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H
Neurosci Lett 2012 Aug 8;523(1):35-8. Epub 2012 Jun 25 doi: 10.1016/j.neulet.2012.06.036. PMID: 22743658Free PMC Article

Clinical prediction guides

Park JS, Koentjoro B, Veivers D, Mackay-Sim A, Sue CM
Hum Mol Genet 2014 Jun 1;23(11):2802-15. Epub 2014 Jan 7 doi: 10.1093/hmg/ddt623. PMID: 24399444Free PMC Article
Dehay B, Martinez-Vicente M, Caldwell GA, Caldwell KA, Yue Z, Cookson MR, Klein C, Vila M, Bezard E
Mov Disord 2013 Jun;28(6):725-32. Epub 2013 Apr 11 doi: 10.1002/mds.25462. PMID: 23580333Free PMC Article
Dehay B, Martinez-Vicente M, Ramirez A, Perier C, Klein C, Vila M, Bezard E
Autophagy 2012 Sep;8(9):1389-91. Epub 2012 Aug 13 doi: 10.4161/auto.21011. PMID: 22885599Free PMC Article
Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H
Neurosci Lett 2012 Aug 8;523(1):35-8. Epub 2012 Jun 25 doi: 10.1016/j.neulet.2012.06.036. PMID: 22743658Free PMC Article
Dehay B, Ramirez A, Martinez-Vicente M, Perier C, Canron MH, Doudnikoff E, Vital A, Vila M, Klein C, Bezard E
Proc Natl Acad Sci U S A 2012 Jun 12;109(24):9611-6. Epub 2012 May 30 doi: 10.1073/pnas.1112368109. PMID: 22647602Free PMC Article

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