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Spinocerebellar ataxia type 30(SCA30)

MedGen UID:
424821
•Concept ID:
C2936793
•
Disease or Syndrome
Synonyms: SCA30 Spinocerebellar ataxia 30; Spinocerebellar ataxia 30
SNOMED CT: Spinocerebellar ataxia type 30 (719253007)
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)
 
Monarch Initiative: MONDO:0013241
OMIM®: 613371
Orphanet: ORPHA211017

Definition

A rare disease with characteristics of slowly progressive and relatively pure ataxia described in 6 patients from one Australian family to date. The disease presents with oculomotor dysfunction, moderate dysarthria, and ataxia that progresses slowly and eventually leads to mobility impairment. Some patients have also reported mild hyperreflexia in the lower limbs. Rare manifestations include gaze-evoked nystagmus and dystonia. The causal gene has not yet been identified but it has been linked to chromosome 4q34.3-q35.1. [from SNOMEDCT_US]

Clinical features

From HPO
Cerebellar ataxia
MedGen UID:
849
•Concept ID:
C0007758
•
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
See: Feature record | Search on this feature
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
Hypermetric saccades
MedGen UID:
140835
•Concept ID:
C0423083
•
Finding
A saccade that overshoots the target with the dynamic saccade.
See: Feature record | Search on this feature
Gaze-evoked nystagmus
MedGen UID:
1808161
•Concept ID:
C5574666
•
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia type 30
Follow this link to review classifications for Spinocerebellar ataxia type 30 in Orphanet.

Professional guidelines

PubMed

Nerve growth factor for the treatment of spinocerebellar ataxia type 3: an open-label study.
Tan S, Wang RH, Niu HX, Shi CH, Mao CY, Zhang R, Song B, Sun SL, Liu XJ, Hou HM, Liu YT, Gao Y, Fang H, Kong XD, Xu YM
Chin Med J (Engl) 2015 Feb 5;128(3):291-4. doi: 10.4103/0366-6999.150087. PMID: 25635421Free PMC Article
Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.
Teive HA, Munhoz RP, Arruda WO, Lopes-Cendes I, Raskin S, Werneck LC, Ashizawa T
Clinics (Sao Paulo) 2012;67(5):443-9. doi: 10.6061/clinics/2012(05)07. PMID: 22666787Free PMC Article
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
Schöls L, Krüger R, Amoiridis G, Przuntek H, Epplen JT, Riess O
J Neurol Neurosurg Psychiatry 1998 Jan;64(1):67-73. doi: 10.1136/jnnp.64.1.67. PMID: 9436730Free PMC Article

Recent clinical studies

Etiology

HD and SCA1: Tales from two 30-year journeys since gene discovery.
Thompson LM, Orr HT
Neuron 2023 Nov 15;111(22):3517-3530. Epub 2023 Oct 19 doi: 10.1016/j.neuron.2023.09.036. PMID: 37863037Free PMC Article
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A
Am J Hum Genet 2023 Jul 6;110(7):1098-1109. Epub 2023 Jun 9 doi: 10.1016/j.ajhg.2023.05.009. PMID: 37301203Free PMC Article
The longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD.
de Oliveira CM, Leotti VB, Polita S, Anes M, Cappelli AH, Rocha AG, Ecco G, Bolzan G, Kersting N, Duarte JA, Saraiva-Pereira ML, Junior MCF, Rezende TJR, Jardim LB
J Neurol 2023 Sep;270(9):4276-4287. Epub 2023 May 16 doi: 10.1007/s00415-023-11763-6. PMID: 37193796Free PMC Article
Pathogenic mechanisms underlying spinocerebellar ataxia type 1.
Tejwani L, Lim J
Cell Mol Life Sci 2020 Oct;77(20):4015-4029. Epub 2020 Apr 18 doi: 10.1007/s00018-020-03520-z. PMID: 32306062Free PMC Article
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Diagnosis

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A
Am J Hum Genet 2023 Jul 6;110(7):1098-1109. Epub 2023 Jun 9 doi: 10.1016/j.ajhg.2023.05.009. PMID: 37301203Free PMC Article
Composite autonomic severity scoring in spinocerebellar ataxia type 1 and 2.
Tamuli D, Kaur M, Jaryal AK, Srivastava AK, Deepak KK
J Clin Neurosci 2023 Jul;113:114-120. Epub 2023 May 30 doi: 10.1016/j.jocn.2023.05.019. PMID: 37257217
Cognitive impairment in spinocerebellar ataxia type 12.
Agarwal A, Kaur H, Agarwal A, Nehra A, Pandey S, Garg A, Faruq M, Rajan R, Shukla G, Goyal V, Srivastava AK
Parkinsonism Relat Disord 2021 Apr;85:52-56. Epub 2021 Mar 13 doi: 10.1016/j.parkreldis.2021.03.010. PMID: 33740701
Ocular motor manifestations of movement disorders.
Crotty GF, Chwalisz BK
Curr Opin Ophthalmol 2019 Nov;30(6):443-448. doi: 10.1097/ICU.0000000000000605. PMID: 31449085
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Therapy

Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers.
Coarelli G, Dubec-Fleury C, Petit E, Sayah S, Fischer C, Nassisi M, Gatignol P, Dorgham K, Daghsen L, Daye P, Cunha P, Kacher R, Hilab R, Hurmic H, Lamazière A, Lamy JC, Welter ML, Chupin M, Mangin JF, Lane R, Gaymard B, Pouget P, Audo I, Brice A, Tezenas du Montcel S, Durr A
Neurology 2024 Sep 10;103(5):e209749. Epub 2024 Aug 12 doi: 10.1212/WNL.0000000000209749. PMID: 39133883Free PMC Article
Molecular therapy for polyQ disorders: from bench to clinical trials.
de Sousa-Lourenço J, Silva AC, Pereira de Almeida L, Nobre RJ
Trends Mol Med 2024 Sep;30(9):804-808. Epub 2024 Jun 4 doi: 10.1016/j.molmed.2024.05.004. PMID: 38839514
Gait training with a wearable powered robot during stroke rehabilitation: a randomized parallel-group trial.
Miyagawa D, Matsushima A, Maruyama Y, Mizukami N, Tetsuya M, Hashimoto M, Yoshida K
J Neuroeng Rehabil 2023 Apr 28;20(1):54. doi: 10.1186/s12984-023-01168-x. PMID: 37118743Free PMC Article
Short-term efficacy of repetitive transcranial magnetic stimulation in SCA3: A prospective, randomized, double-blind, sham-controlled study.
Sikandar A, Liu XH, Xu HL, Li Y, Lin YQ, Chen XY, Li GH, Lin MT, Wang N, Chen WJ, Ni GX, Gan SR
Parkinsonism Relat Disord 2023 Jan;106:105236. Epub 2022 Dec 6 doi: 10.1016/j.parkreldis.2022.105236. PMID: 36529111
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F
Parkinsonism Relat Disord 2011 Jul;17(6):418-22. Epub 2011 Mar 30 doi: 10.1016/j.parkreldis.2011.03.005. PMID: 21450511

Prognosis

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A
Am J Hum Genet 2023 Jul 6;110(7):1098-1109. Epub 2023 Jun 9 doi: 10.1016/j.ajhg.2023.05.009. PMID: 37301203Free PMC Article
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
Cognitive impairment in spinocerebellar ataxia type 12.
Agarwal A, Kaur H, Agarwal A, Nehra A, Pandey S, Garg A, Faruq M, Rajan R, Shukla G, Goyal V, Srivastava AK
Parkinsonism Relat Disord 2021 Apr;85:52-56. Epub 2021 Mar 13 doi: 10.1016/j.parkreldis.2021.03.010. PMID: 33740701
Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study.
Nakamura K, Yoshida K, Matsushima A, Shimizu Y, Sato S, Yahikozawa H, Ohara S, Yazawa M, Ushiyama M, Sato M, Morita H, Inoue A, Ikeda SI
Cerebellum 2017 Apr;16(2):518-524. doi: 10.1007/s12311-016-0833-6. PMID: 27830516
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Clinical prediction guides

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A
Am J Hum Genet 2023 Jul 6;110(7):1098-1109. Epub 2023 Jun 9 doi: 10.1016/j.ajhg.2023.05.009. PMID: 37301203Free PMC Article
The longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD.
de Oliveira CM, Leotti VB, Polita S, Anes M, Cappelli AH, Rocha AG, Ecco G, Bolzan G, Kersting N, Duarte JA, Saraiva-Pereira ML, Junior MCF, Rezende TJR, Jardim LB
J Neurol 2023 Sep;270(9):4276-4287. Epub 2023 May 16 doi: 10.1007/s00415-023-11763-6. PMID: 37193796Free PMC Article
Cognitive impairment in spinocerebellar ataxia type 12.
Agarwal A, Kaur H, Agarwal A, Nehra A, Pandey S, Garg A, Faruq M, Rajan R, Shukla G, Goyal V, Srivastava AK
Parkinsonism Relat Disord 2021 Apr;85:52-56. Epub 2021 Mar 13 doi: 10.1016/j.parkreldis.2021.03.010. PMID: 33740701
Pathogenic mechanisms underlying spinocerebellar ataxia type 1.
Tejwani L, Lim J
Cell Mol Life Sci 2020 Oct;77(20):4015-4029. Epub 2020 Apr 18 doi: 10.1007/s00018-020-03520-z. PMID: 32306062Free PMC Article
Olfactory Function in SCA10.
Moscovich M, Munhoz RP, Moro A, Raskin S, McFarland K, Ashizawa T, Teive HAG, Silveira-Moriyama L
Cerebellum 2019 Feb;18(1):85-90. doi: 10.1007/s12311-018-0954-1. PMID: 29922950Free PMC Article

Recent systematic reviews

Efficacy and Safety of Repetitive Transcranial Magnetic Stimulation in Spinocerebellar Ataxia Type 3: a Systematic Review and Meta‑analysis of Randomized Controlled Trials.
Qiu M, Wang R, Shen Y, Hu Z, Zhang Y
Cerebellum 2024 Aug;23(4):1604-1613. Epub 2023 Nov 17 doi: 10.1007/s12311-023-01628-z. PMID: 37975968
The reliability of gait parameters captured via instrumented walkways: a systematic review and meta-analysis.
Parati M, Ambrosini E, DE Maria B, Gallotta M, Dalla Vecchia LA, Ferriero G, Ferrante S
Eur J Phys Rehabil Med 2022 Jun;58(3):363-377. Epub 2022 Jan 5 doi: 10.23736/S1973-9087.22.07037-X. PMID: 34985239Free PMC Article

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