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Late-onset spinocerebellar degeneration

MedGen UID:
347273
•Concept ID:
C1856604
•
Finding
HPO: HP:0006904

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLate-onset spinocerebellar degeneration

Conditions with this feature

Gamma-glutamylcysteine synthetase deficiency
MedGen UID:
347272
•Concept ID:
C1856603
•
Disease or Syndrome
Gamma-glutamylcysteine synthetase deficiency is 1 of 4 diseases involving enzymes in the gamma-glutamyl cycle (Meister, 1974). The other 3 disorders are glutathione synthetase deficiency (231900), 5-oxoprolinuria, which is a severe or generalized form of glutathione synthetase deficiency (266130), and gamma-glutamyl transpeptidase deficiency (231950). All except gamma-glutamyl transpeptidase deficiency are accompanied by hemolytic anemia (Larsson and Anderson, 2001).
See: Condition Record
Gamma-glutamylcysteine synthetase deficiency

Professional guidelines

PubMed

Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases.
Leite Â, Dinis MA, Sequeiros J, Paúl C
Psychol Health Med 2017 Feb;22(2):244-249. Epub 2016 Mar 7 doi: 10.1080/13548506.2016.1159704. PMID: 26947204
Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan.
Tanaka K, Sekijima Y, Yoshida K, Tamai M, Kosho T, Sakurai A, Wakui K, Ikeda S, Fukushima Y
J Hum Genet 2013 Aug;58(8):560-3. Epub 2013 May 2 doi: 10.1038/jhg.2013.34. PMID: 23635952
Diagnosis and management of early- and late-onset cerebellar ataxia.
Brusse E, Maat-Kievit JA, van Swieten JC
Clin Genet 2007 Jan;71(1):12-24. doi: 10.1111/j.1399-0004.2006.00722.x. PMID: 17204042

Recent clinical studies

Etiology

Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, Roth V, Wandzel M, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Tranchant C, Renaud M, Anheim M
Mov Disord 2023 Oct;38(10):1950-1956. Epub 2023 Jul 20 doi: 10.1002/mds.29560. PMID: 37470282
Late-onset hereditary ataxias with dementia.
Linares AJ, Fogel BL
Curr Opin Neurol 2023 Aug 1;36(4):324-334. Epub 2023 Jun 2 doi: 10.1097/WCO.0000000000001170. PMID: 37382141Free PMC Article
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
Wilke C, Pellerin D, Mengel D, Traschütz A, Danzi MC, Dicaire MJ, Neumann M, Lerche H, Bender B, Houlden H; RFC1 study group, Züchner S, Schöls L, Brais B, Synofzik M
Brain 2023 Oct 3;146(10):4144-4157. doi: 10.1093/brain/awad157. PMID: 37165652
Genetic cerebellar ataxias.
Storey E
Semin Neurol 2014 Jul;34(3):280-92. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386766. PMID: 25192506
Spinocerebellar ataxia type 1.
Donato SD, Mariotti C, Taroni F
Handb Clin Neurol 2012;103:399-421. doi: 10.1016/B978-0-444-51892-7.00025-5. PMID: 21827903

Diagnosis

Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, Roth V, Wandzel M, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Tranchant C, Renaud M, Anheim M
Mov Disord 2023 Oct;38(10):1950-1956. Epub 2023 Jul 20 doi: 10.1002/mds.29560. PMID: 37470282
Late-onset hereditary ataxias with dementia.
Linares AJ, Fogel BL
Curr Opin Neurol 2023 Aug 1;36(4):324-334. Epub 2023 Jun 2 doi: 10.1097/WCO.0000000000001170. PMID: 37382141Free PMC Article
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B
N Engl J Med 2023 Jan 12;388(2):128-141. Epub 2022 Dec 14 doi: 10.1056/NEJMoa2207406. PMID: 36516086Free PMC Article
Genetic cerebellar ataxias.
Storey E
Semin Neurol 2014 Jul;34(3):280-92. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386766. PMID: 25192506
Spinocerebellar ataxia type 1.
Donato SD, Mariotti C, Taroni F
Handb Clin Neurol 2012;103:399-421. doi: 10.1016/B978-0-444-51892-7.00025-5. PMID: 21827903

Therapy

Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design.
Rummey C, Corben LA, Delatycki M, Wilmot G, Subramony SH, Corti M, Bushara K, Duquette A, Gomez C, Hoyle JC, Roxburgh R, Seeberger L, Yoon G, Mathews K, Zesiewicz T, Perlman S, Lynch DR
Neurology 2022 Oct 3;99(14):e1499-e1510. doi: 10.1212/WNL.0000000000200913. PMID: 35817567Free PMC Article
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.
Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB; EFACTS study group
Lancet Neurol 2021 May;20(5):362-372. Epub 2021 Mar 23 doi: 10.1016/S1474-4422(21)00027-2. PMID: 33770527
The significance of intercalated discs in the pathogenesis of Friedreich cardiomyopathy.
Koeppen AH, Becker AB, Feustel PJ, Gelman BB, Mazurkiewicz JE
J Neurol Sci 2016 Aug 15;367:171-6. Epub 2016 Jun 4 doi: 10.1016/j.jns.2016.06.006. PMID: 27423584
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.
Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB
Lancet Neurol 2015 Feb;14(2):174-82. Epub 2015 Jan 5 doi: 10.1016/S1474-4422(14)70321-7. PMID: 25566998
Broad therapeutic benefit after RNAi expression vector delivery to deep cerebellar nuclei: implications for spinocerebellar ataxia type 1 therapy.
Keiser MS, Boudreau RL, Davidson BL
Mol Ther 2014 Mar;22(3):588-595. Epub 2013 Dec 12 doi: 10.1038/mt.2013.279. PMID: 24419082Free PMC Article

Prognosis

Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.
Ando M, Higuchi Y, Yuan J, Yoshimura A, Kojima F, Yamanishi Y, Aso Y, Izumi K, Imada M, Maki Y, Nakagawa H, Hobara T, Noguchi Y, Takei J, Hiramatsu Y, Nozuma S, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Takashima H
Ann Clin Transl Neurol 2024 Jan;11(1):96-104. Epub 2023 Nov 2 doi: 10.1002/acn3.51936. PMID: 37916889Free PMC Article
A novel clinicopathologic entity causing rapidly progressive cerebellar ataxia?
Koga S, Ali S, Baker MC, Wierenga KJ, Dompenciel M, Dickson DW, Wszolek ZK
Parkinsonism Relat Disord 2022 Dec;105:149-153. Epub 2022 Nov 11 doi: 10.1016/j.parkreldis.2022.11.008. PMID: 36396537
Different Clinical Contexts of Use of Blood Neurofilament Light Chain Protein in the Spectrum of Neurodegenerative Diseases.
Palermo G, Mazzucchi S, Della Vecchia A, Siciliano G, Bonuccelli U, Azuar C, Ceravolo R, Lista S, Hampel H, Baldacci F
Mol Neurobiol 2020 Nov;57(11):4667-4691. Epub 2020 Aug 9 doi: 10.1007/s12035-020-02035-9. PMID: 32772223
PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36.
Aguiar P, Pardo J, Arias M, Quintáns B, Fernández-Prieto M, Martínez-Regueiro R, Pumar JM, Silva-Rodríguez J, Ruibal Á, Sobrido MJ, Cortés J
Mov Disord 2017 Feb;32(2):264-273. Epub 2016 Nov 10 doi: 10.1002/mds.26854. PMID: 27862279
Diagnosis and management of early- and late-onset cerebellar ataxia.
Brusse E, Maat-Kievit JA, van Swieten JC
Clin Genet 2007 Jan;71(1):12-24. doi: 10.1111/j.1399-0004.2006.00722.x. PMID: 17204042

Clinical prediction guides

Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.
Ando M, Higuchi Y, Yuan J, Yoshimura A, Kojima F, Yamanishi Y, Aso Y, Izumi K, Imada M, Maki Y, Nakagawa H, Hobara T, Noguchi Y, Takei J, Hiramatsu Y, Nozuma S, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Takashima H
Ann Clin Transl Neurol 2024 Jan;11(1):96-104. Epub 2023 Nov 2 doi: 10.1002/acn3.51936. PMID: 37916889Free PMC Article
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, Roth V, Wandzel M, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Tranchant C, Renaud M, Anheim M
Mov Disord 2023 Oct;38(10):1950-1956. Epub 2023 Jul 20 doi: 10.1002/mds.29560. PMID: 37470282
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
Wilke C, Pellerin D, Mengel D, Traschütz A, Danzi MC, Dicaire MJ, Neumann M, Lerche H, Bender B, Houlden H; RFC1 study group, Züchner S, Schöls L, Brais B, Synofzik M
Brain 2023 Oct 3;146(10):4144-4157. doi: 10.1093/brain/awad157. PMID: 37165652
Different Clinical Contexts of Use of Blood Neurofilament Light Chain Protein in the Spectrum of Neurodegenerative Diseases.
Palermo G, Mazzucchi S, Della Vecchia A, Siciliano G, Bonuccelli U, Azuar C, Ceravolo R, Lista S, Hampel H, Baldacci F
Mol Neurobiol 2020 Nov;57(11):4667-4691. Epub 2020 Aug 9 doi: 10.1007/s12035-020-02035-9. PMID: 32772223
Delayed-onset Friedreich's ataxia revisited.
Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M
Mov Disord 2016 Jan;31(1):62-9. Epub 2015 Sep 21 doi: 10.1002/mds.26382. PMID: 26388117

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