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Spinocerebellar ataxia type 32(SCA32)

MedGen UID:
462693
Concept ID:
C3151343
Disease or Syndrome
Synonyms: SCA32; SPINOCEREBELLAR ATAXIA 32
SNOMED CT: Spinocerebellar ataxia type 32 (719254001)
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:0013486
OMIM®: 613909
Orphanet: ORPHA276183

Definition

Spinocerebellar ataxia-32 (SCA32) is an autosomal dominant neurologic disorder characterized by ataxia, variable mental impairment, and azoospermia in males (summary by Jiang et al., 2010). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). [from OMIM]

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
Concept ID:
C0004509
Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Infertility disorder
MedGen UID:
43876
Concept ID:
C0021359
Finding
Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
Testicular atrophy
MedGen UID:
57626
Concept ID:
C0156312
Disease or Syndrome
Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.
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).
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia type 32
Follow this link to review classifications for Spinocerebellar ataxia type 32 in Orphanet.

Professional guidelines

PubMed

Schuster KH, Zalon AJ, DiFranco DM, Putka AF, Stec NR, Jarrah SI, Naeem A, Haque Z, Zhang H, Guan Y, McLoughlin HS
Mol Ther 2024 May 1;32(5):1359-1372. Epub 2024 Feb 29 doi: 10.1016/j.ymthe.2024.02.033. PMID: 38429929Free PMC Article
Sandoval C, Swift M
Med Pediatr Oncol 1998 Dec;31(6):491-7. doi: 10.1002/(sici)1096-911x(199812)31:6<491::aid-mpo5>3.0.co;2-b. PMID: 9835901

Recent clinical studies

Etiology

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
Jacobi H, Schaprian T, Beyersmann J, Tezenas du Montcel S, Schmid M, Klockgether T; EUROSCA and RISCA Study Groups
Ann Clin Transl Neurol 2022 Mar;9(3):286-295. Epub 2022 Feb 21 doi: 10.1002/acn3.51515. PMID: 35188716Free PMC Article
Leite CMBA, Schieferdecker MEM, Frehner C, Munhoz RP, Ashizawa T, Teive HAG
Nutr Neurosci 2020 Jan;23(1):49-54. Epub 2018 May 7 doi: 10.1080/1028415X.2018.1469282. PMID: 29734917Free PMC Article
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
Hekman KE, Gomez CM
J Neurol Neurosurg Psychiatry 2015 May;86(5):554-61. Epub 2014 Aug 18 doi: 10.1136/jnnp-2014-308421. PMID: 25136055Free PMC Article

Diagnosis

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
Velázquez-Pérez L, Rodríguez-Labrada R, Laffita-Mesa JM
Mov Disord 2017 May;32(5):708-718. Epub 2017 Mar 3 doi: 10.1002/mds.26969. PMID: 28256108
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
Arias M, García-Murias M, Sobrido MJ
Neurologia 2017 Jul-Aug;32(6):386-393. Epub 2015 Jan 13 doi: 10.1016/j.nrl.2014.11.005. PMID: 25593102
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

Therapy

Pellerin D, Heindl F, Wilke C, Danzi MC, Traschütz A, Ashton C, Dicaire MJ, Cuillerier A, Del Gobbo G, Boycott KM, Claassen J, Rujescu D, Hartmann AM, Zuchner S, Brais B, Strupp M, Synofzik M
EBioMedicine 2024 Apr;102:105076. Epub 2024 Mar 19 doi: 10.1016/j.ebiom.2024.105076. PMID: 38507876Free PMC Article
Watchon M, Yuan KC, Mackovski N, Svahn AJ, Cole NJ, Goldsbury C, Rinkwitz S, Becker TS, Nicholson GA, Laird AS
J Neurosci 2017 Aug 9;37(32):7782-7794. Epub 2017 Jul 7 doi: 10.1523/JNEUROSCI.1142-17.2017. PMID: 28687604Free PMC Article
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
Ye C, Yang Z, Ying SH, Prince JL
Neuroinformatics 2015 Jul;13(3):367-81. doi: 10.1007/s12021-015-9264-7. PMID: 25749985Free PMC Article
Alves S, Régulier E, Nascimento-Ferreira I, Hassig R, Dufour N, Koeppen A, Carvalho AL, Simões S, de Lima MC, Brouillet E, Gould VC, Déglon N, de Almeida LP
Hum Mol Genet 2008 Jul 15;17(14):2071-83. Epub 2008 Apr 1 doi: 10.1093/hmg/ddn106. PMID: 18385100

Prognosis

Lipman AR, Fan X, Shen Y, Chung WK
Clin Genet 2022 Oct;102(4):288-295. Epub 2022 Jun 26 doi: 10.1111/cge.14180. PMID: 35722745Free PMC Article
Velázquez-Pérez L, Rodríguez-Labrada R, Laffita-Mesa JM
Mov Disord 2017 May;32(5):708-718. Epub 2017 Mar 3 doi: 10.1002/mds.26969. PMID: 28256108
Isono C, Hirano M, Sakamoto H, Ueno S, Kusunoki S, Nakamura Y
Dysphagia 2017 Jun;32(3):420-426. Epub 2017 Jan 2 doi: 10.1007/s00455-016-9771-1. PMID: 28042641
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
Nissenkorn A, Borgohain R, Micheli R, Leuzzi V, Hegde AU, Mridula KR, Molinaro A, D'Agnano D, Yareeda S, Ben-Zeev B
Eur J Paediatr Neurol 2016 Jan;20(1):140-6. Epub 2015 Sep 25 doi: 10.1016/j.ejpn.2015.09.002. PMID: 26493850

Clinical prediction guides

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
Lipman AR, Fan X, Shen Y, Chung WK
Clin Genet 2022 Oct;102(4):288-295. Epub 2022 Jun 26 doi: 10.1111/cge.14180. PMID: 35722745Free PMC Article
Jacobi H, Schaprian T, Beyersmann J, Tezenas du Montcel S, Schmid M, Klockgether T; EUROSCA and RISCA Study Groups
Ann Clin Transl Neurol 2022 Mar;9(3):286-295. Epub 2022 Feb 21 doi: 10.1002/acn3.51515. PMID: 35188716Free PMC Article
Amirifar P, Ranjouri MR, Pashangzadeh S, Lavin M, Yazdani R, Moeini Shad T, Mehrmohamadi M, Salami F, Delavari S, Moamer S, Aghamohammadi A, Akrami SM, Abolhassani H
Pediatr Allergy Immunol 2021 Aug;32(6):1316-1326. Epub 2021 Mar 2 doi: 10.1111/pai.13461. PMID: 33547824
Velázquez-Pérez L, Rodríguez-Labrada R, Laffita-Mesa JM
Mov Disord 2017 May;32(5):708-718. Epub 2017 Mar 3 doi: 10.1002/mds.26969. PMID: 28256108

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