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Spinocerebellar ataxia 45(SCA45)

MedGen UID:
1622156
•Concept ID:
C4540400
•
Disease or Syndrome
Synonyms: SCA45; SPINOCEREBELLAR ATAXIA 45
SNOMED CT: Spinocerebellar ataxia type 45 (1279840000); SCA45 - spinocerebellar ataxia type 45 (1279840000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): FAT2 (5q33.1)
 
Monarch Initiative: MONDO:0033480
OMIM®: 617769
Orphanet: ORPHA589527

Definition

A rare autosomal dominant cerebellar ataxia with characteristics of slowly progressive late-onset gait and limb ataxia, dysarthria and variable nystagmus. Brain imaging reveals cerebellar atrophy. [from SNOMEDCT_US]

Clinical features

From HPO
Dysarthria
MedGen UID:
8510
•Concept ID:
C0013362
•
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
See: Feature record | Search on this feature
Cerebellar atrophy
MedGen UID:
196624
•Concept ID:
C0740279
•
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
See: Feature record | Search on this feature
Limb ataxia
MedGen UID:
196692
•Concept ID:
C0750937
•
Finding
A kind of ataxia that affects movements of the extremities.
See: Feature record | Search on this feature
Gait ataxia
MedGen UID:
155642
•Concept ID:
C0751837
•
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
See: Feature record | Search on this feature
Downbeat nystagmus
MedGen UID:
154401
•Concept ID:
C0585544
•
Finding
Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia 45

Professional guidelines

PubMed

Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.
Rossi M, Hamed M, Rodríguez-Antigüedad J, Cornejo-Olivas M, Breza M, Lohmann K, Klein C, Rajalingam R, Marras C, van de Warrenburg BP
Mov Disord 2023 Mar;38(3):368-377. Epub 2022 Nov 14 doi: 10.1002/mds.29278. PMID: 36374860
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
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O
Eur J Neurol 2014 Apr;21(4):552-62. Epub 2014 Jan 13 doi: 10.1111/ene.12341. PMID: 24418350

Recent clinical studies

Etiology

Systematic assessment of plasma biomarkers in spinocerebellar ataxia.
Shen XN, Wu KM, Huang YY, Guo Y, Huang SY, Zhang YR, Chen SF, Wang HF, Zhang W, Cheng W, Cui M, Dong Q, Yu JT
Neurobiol Dis 2023 Jun 1;181:106112. Epub 2023 Mar 30 doi: 10.1016/j.nbd.2023.106112. PMID: 37003406
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.
Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Paulson HL, Öz G, Klockgether T, Durr A, Ashizawa T; READISCA Consortium Collaborators
Neurology 2023 Apr 25;100(17):e1836-e1848. Epub 2023 Feb 16 doi: 10.1212/WNL.0000000000207088. PMID: 36797067Free PMC Article
Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.
Rossi M, Hamed M, Rodríguez-Antigüedad J, Cornejo-Olivas M, Breza M, Lohmann K, Klein C, Rajalingam R, Marras C, van de Warrenburg BP
Mov Disord 2023 Mar;38(3):368-377. Epub 2022 Nov 14 doi: 10.1002/mds.29278. PMID: 36374860
Dystonia and ataxia progression in spinocerebellar ataxias.
Kuo PH, Gan SR, Wang J, Lo RY, Figueroa KP, Tomishon D, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo SH
Parkinsonism Relat Disord 2017 Dec;45:75-80. Epub 2017 Oct 23 doi: 10.1016/j.parkreldis.2017.10.007. PMID: 29089256Free PMC Article
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

Diagnosis

Systematic assessment of plasma biomarkers in spinocerebellar ataxia.
Shen XN, Wu KM, Huang YY, Guo Y, Huang SY, Zhang YR, Chen SF, Wang HF, Zhang W, Cheng W, Cui M, Dong Q, Yu JT
Neurobiol Dis 2023 Jun 1;181:106112. Epub 2023 Mar 30 doi: 10.1016/j.nbd.2023.106112. PMID: 37003406
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.
Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Paulson HL, Öz G, Klockgether T, Durr A, Ashizawa T; READISCA Consortium Collaborators
Neurology 2023 Apr 25;100(17):e1836-e1848. Epub 2023 Feb 16 doi: 10.1212/WNL.0000000000207088. PMID: 36797067Free PMC Article
Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.
Rossi M, Hamed M, Rodríguez-Antigüedad J, Cornejo-Olivas M, Breza M, Lohmann K, Klein C, Rajalingam R, Marras C, van de Warrenburg BP
Mov Disord 2023 Mar;38(3):368-377. Epub 2022 Nov 14 doi: 10.1002/mds.29278. PMID: 36374860
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
Spinocerebellar ataxia type 15.
Storey E, Gardner RJ
Handb Clin Neurol 2012;103:561-5. doi: 10.1016/B978-0-444-51892-7.00037-1. PMID: 21827915

Therapy

Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.
Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Paulson HL, Öz G, Klockgether T, Durr A, Ashizawa T; READISCA Consortium Collaborators
Neurology 2023 Apr 25;100(17):e1836-e1848. Epub 2023 Feb 16 doi: 10.1212/WNL.0000000000207088. PMID: 36797067Free PMC Article
Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.
Rossi M, Hamed M, Rodríguez-Antigüedad J, Cornejo-Olivas M, Breza M, Lohmann K, Klein C, Rajalingam R, Marras C, van de Warrenburg BP
Mov Disord 2023 Mar;38(3):368-377. Epub 2022 Nov 14 doi: 10.1002/mds.29278. PMID: 36374860
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial.
Coarelli G, Heinzmann A, Ewenczyk C, Fischer C, Chupin M, Monin ML, Hurmic H, Calvas F, Calvas P, Goizet C, Thobois S, Anheim M, Nguyen K, Devos D, Verny C, Ricigliano VAG, Mangin JF, Brice A, Tezenas du Montcel S, Durr A
Lancet Neurol 2022 Mar;21(3):225-233. Epub 2022 Jan 18 doi: 10.1016/S1474-4422(21)00457-9. PMID: 35063116
Central auditory processing in patients with spinocerebellar ataxia.
Zeigelboim BS, de Carvalho HA, Teive HA, Liberalesso PB, Jurkiewicz AL, da Silva Abdulmassih EM, Marques JM, Cordeiro ML
Hear Res 2015 Sep;327:235-44. Epub 2015 Jul 14 doi: 10.1016/j.heares.2015.07.006. PMID: 26183435
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3.
Chen X, Tang TS, Tu H, Nelson O, Pook M, Hammer R, Nukina N, Bezprozvanny I
J Neurosci 2008 Nov 26;28(48):12713-24. doi: 10.1523/JNEUROSCI.3909-08.2008. PMID: 19036964Free PMC Article

Prognosis

Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene.
Gazulla J, Bellosta-Diago E, Izquierdo-Alvarez S, Berciano J
Eur J Neurol 2023 Aug;30(8):2539-2543. Epub 2023 May 19 doi: 10.1111/ene.15840. PMID: 37154409
CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.
Tan D, Wei C, Chen Z, Huang Y, Deng J, Li J, Liu Y, Bao X, Xu J, Hu Z, Wang S, Fan Y, Jiang Y, Wu Y, Wu Y, Wang S, Liu P, Zhang Y, Yang Z, Jiang Y, Zhang H, Hong D, Zhong N, Jiang H, Xiong H
Mov Disord 2023 Jul;38(7):1282-1293. Epub 2023 May 6 doi: 10.1002/mds.29412. PMID: 37148549
Spinocerebellar ataxia type 31: A clinical and radiological literature review.
Saucier J, Al-Qadi M, Amor MB, Ishikawa K, Chamard-Witkowski L
J Neurol Sci 2023 Jan 15;444:120527. Epub 2022 Dec 16 doi: 10.1016/j.jns.2022.120527. PMID: 36563608
Dystonia and ataxia progression in spinocerebellar ataxias.
Kuo PH, Gan SR, Wang J, Lo RY, Figueroa KP, Tomishon D, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo SH
Parkinsonism Relat Disord 2017 Dec;45:75-80. Epub 2017 Oct 23 doi: 10.1016/j.parkreldis.2017.10.007. PMID: 29089256Free PMC Article
Ataxia-telangiectasia: Immunodeficiency and survival.
van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, van der Flier M, Haaxma CA, Morio T, Rawat A, Schoenaker MHD, Soresina A, Taylor AMR, van de Warrenburg BPC, Weemaes CMR, Roeleveld N, Willemsen MAAP
Clin Immunol 2017 May;178:45-55. Epub 2017 Jan 24 doi: 10.1016/j.clim.2017.01.009. PMID: 28126470

Clinical prediction guides

Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene.
Gazulla J, Bellosta-Diago E, Izquierdo-Alvarez S, Berciano J
Eur J Neurol 2023 Aug;30(8):2539-2543. Epub 2023 May 19 doi: 10.1111/ene.15840. PMID: 37154409
CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.
Tan D, Wei C, Chen Z, Huang Y, Deng J, Li J, Liu Y, Bao X, Xu J, Hu Z, Wang S, Fan Y, Jiang Y, Wu Y, Wu Y, Wang S, Liu P, Zhang Y, Yang Z, Jiang Y, Zhang H, Hong D, Zhong N, Jiang H, Xiong H
Mov Disord 2023 Jul;38(7):1282-1293. Epub 2023 May 6 doi: 10.1002/mds.29412. PMID: 37148549
Systematic assessment of plasma biomarkers in spinocerebellar ataxia.
Shen XN, Wu KM, Huang YY, Guo Y, Huang SY, Zhang YR, Chen SF, Wang HF, Zhang W, Cheng W, Cui M, Dong Q, Yu JT
Neurobiol Dis 2023 Jun 1;181:106112. Epub 2023 Mar 30 doi: 10.1016/j.nbd.2023.106112. PMID: 37003406
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.
Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Paulson HL, Öz G, Klockgether T, Durr A, Ashizawa T; READISCA Consortium Collaborators
Neurology 2023 Apr 25;100(17):e1836-e1848. Epub 2023 Feb 16 doi: 10.1212/WNL.0000000000207088. PMID: 36797067Free PMC Article
Spinocerebellar ataxia type 31: A clinical and radiological literature review.
Saucier J, Al-Qadi M, Amor MB, Ishikawa K, Chamard-Witkowski L
J Neurol Sci 2023 Jan 15;444:120527. Epub 2022 Dec 16 doi: 10.1016/j.jns.2022.120527. PMID: 36563608

Recent systematic reviews

Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.
Rossi M, Hamed M, Rodríguez-Antigüedad J, Cornejo-Olivas M, Breza M, Lohmann K, Klein C, Rajalingam R, Marras C, van de Warrenburg BP
Mov Disord 2023 Mar;38(3):368-377. Epub 2022 Nov 14 doi: 10.1002/mds.29278. PMID: 36374860
Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.
Bayram N, Kaçar Bayram A, Daimagüler HS, Dafsari HS, Bamborschke D, Uyanik G, Erdogan M, Özsaygılı C, Pangal E, Yuvaci İ, Doğanay S, Gümüş H, Per H, Jungbluth H, Çırak S
Eur J Ophthalmol 2022 May;32(3):NP92-NP97. Epub 2021 Jun 2 doi: 10.1177/11206721211021291. PMID: 34075802
Selective forces acting on spinocerebellar ataxia type 3/Machado-Joseph disease recurrency: A systematic review and meta-analysis.
Sena LS, Dos Santos Pinheiro J, Saraiva-Pereira ML, Jardim LB
Clin Genet 2021 Mar;99(3):347-358. Epub 2020 Dec 2 doi: 10.1111/cge.13888. PMID: 33219521
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

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      Clinical tests in GTR
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