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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.
 
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).
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.
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.
Hypermetric saccades
MedGen UID:
140835
Concept ID:
C0423083
Finding
A saccade that overshoots the target with the dynamic saccade.
Gaze-evoked nystagmus
MedGen UID:
1808161
Concept ID:
C5574666
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.

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

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
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
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

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
Faber J, Kügler D, Bahrami E, Heinz LS, Timmann D, Ernst TM, Deike-Hofmann K, Klockgether T, van de Warrenburg B, van Gaalen J, Reetz K, Romanzetti S, Oz G, Joers JM, Diedrichsen J; ESMI MRI Study Group, Reuter M
Neuroimage 2022 Dec 1;264:119703. Epub 2022 Oct 27 doi: 10.1016/j.neuroimage.2022.119703. PMID: 36349595Free PMC Article
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
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
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Diagnosis

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
Faber J, Kügler D, Bahrami E, Heinz LS, Timmann D, Ernst TM, Deike-Hofmann K, Klockgether T, van de Warrenburg B, van Gaalen J, Reetz K, Romanzetti S, Oz G, Joers JM, Diedrichsen J; ESMI MRI Study Group, Reuter M
Neuroimage 2022 Dec 1;264:119703. Epub 2022 Oct 27 doi: 10.1016/j.neuroimage.2022.119703. PMID: 36349595Free PMC Article
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
Crotty GF, Chwalisz BK
Curr Opin Ophthalmol 2019 Nov;30(6):443-448. doi: 10.1097/ICU.0000000000000605. PMID: 31449085
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Therapy

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
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
Maas RPPWM, Toni I, Doorduin J, Klockgether T, Schutter DJLG, van de Warrenburg BPC
BMC Neurol 2019 Jul 4;19(1):149. doi: 10.1186/s12883-019-1379-2. PMID: 31272408Free PMC Article
Rodríguez-Labrada R, Velázquez-Pérez L, Auburger G, Ziemann U, Canales-Ochoa N, Medrano-Montero J, Vázquez-Mojena Y, González-Zaldivar Y
Mov Disord 2016 Apr;31(4):570-8. Epub 2016 Feb 5 doi: 10.1002/mds.26532. PMID: 26846400
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

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
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
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
Rodríguez-Labrada R, Velázquez-Pérez L, Auburger G, Ziemann U, Canales-Ochoa N, Medrano-Montero J, Vázquez-Mojena Y, González-Zaldivar Y
Mov Disord 2016 Apr;31(4):570-8. Epub 2016 Feb 5 doi: 10.1002/mds.26532. PMID: 26846400
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

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
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
Dennis AG, Almaguer-Mederos LE, Raúl RA, Roberto RL, Luis VP, Dany CA, Yanetza GZ, Yaimeé VM, Annelié ED, Arnoy PA, Reydenis TV
Oxid Med Cell Longev 2021;2021:9875639. Epub 2021 Feb 19 doi: 10.1155/2021/9875639. PMID: 33688396Free PMC Article
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
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

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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