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Spinocerebellar ataxia type 41(SCA41)

MedGen UID:
908281
Concept ID:
C4225158
Disease or Syndrome
Synonyms: SCA41; SPINOCEREBELLAR ATAXIA 41
SNOMED CT: Spinocerebellar ataxia type 41 (1208512000)
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.
 
Gene (location): TRPC3 (4q27)
 
Monarch Initiative: MONDO:0014626
OMIM®: 616410
Orphanet: ORPHA458798

Definition

A rare autosomal dominant cerebellar ataxia type III disorder with characteristics of adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging. [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).
Unsteady gait
MedGen UID:
68544
Concept ID:
C0231686
Finding
A shaky or wobbly manner of walking.
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.
Cerebellar vermis atrophy
MedGen UID:
149271
Concept ID:
C0742028
Disease or Syndrome
Wasting (atrophy) of the vermis of cerebellum.
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.
Postural instability
MedGen UID:
334529
Concept ID:
C1843921
Finding
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia type 41

Professional guidelines

PubMed

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
Du YC, Dong Y, Cheng HL, Li QF, Yang L, Shao YR, Ma Y, Ni W, Gan SR, Wu ZY
Parkinsonism Relat Disord 2020 Sep;78:116-121. Epub 2020 Aug 4 doi: 10.1016/j.parkreldis.2020.07.024. PMID: 32814229
Zühlke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, Bürk K
Eur J Hum Genet 2002 Mar;10(3):204-9. doi: 10.1038/sj.ejhg.5200788. PMID: 11973625

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
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
Inada R, Hirano M, Oka N, Samukawa M, Saigoh K, Suzuki H, Udaka F, Hashiguchi A, Takashima H, Hamada Y, Nakamura Y, Kusunoki S
J Neurol 2021 Aug;268(8):2933-2942. Epub 2021 Feb 24 doi: 10.1007/s00415-021-10467-z. PMID: 33625581
Corral-Juan M, Serrano-Munuera C, Rábano A, Cota-González D, Segarra-Roca A, Ispierto L, Cano-Orgaz AT, Adarmes AD, Méndez-Del-Barrio C, Jesús S, Mir P, Volpini V, Alvarez-Ramo R, Sánchez I, Matilla-Dueñas A
Brain 2018 Jul 1;141(7):1981-1997. doi: 10.1093/brain/awy137. PMID: 29939198
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

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
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
Saito R, Tada Y, Oikawa D, Sato Y, Seto M, Satoh A, Kume K, Ueki N, Nakashima M, Hayashi S, Toyoshima Y, Tokunaga F, Kawakami H, Kakita A
Acta Neuropathol Commun 2022 Dec 7;10(1):177. doi: 10.1186/s40478-022-01486-6. PMID: 36476347Free PMC Article
Hommersom MP, van Prooije TH, Pennings M, Schouten MI, van Bokhoven H, Kamsteeg EJ, van de Warrenburg BPC
J Neurol 2022 Jun;269(6):3094-3108. Epub 2021 Nov 22 doi: 10.1007/s00415-021-10897-9. PMID: 34806130
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

Therapy

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
Kim G, Nakayama L, Blum JA, Akiyama T, Boeynaems S, Chakraborty M, Couthouis J, Tassoni-Tsuchida E, Rodriguez CM, Bassik MC, Gitler AD
Cell Rep 2022 Oct 25;41(4):111508. doi: 10.1016/j.celrep.2022.111508. PMID: 36288714Free PMC Article
Maas RPPWM, van de Warrenburg BPC
Parkinsonism Relat Disord 2021 Oct;91:37-41. Epub 2021 Aug 26 doi: 10.1016/j.parkreldis.2021.08.014. PMID: 34479057
Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, Bishop KM, Foster R, Liu Y, Ramirez-Schrempp D, Schneider E, Bennett CF, Wong J, Farwell W
Lancet Child Adolesc Health 2021 Jul;5(7):491-500. Epub 2021 Jun 3 doi: 10.1016/S2352-4642(21)00100-0. PMID: 34089650
Bushart DD, Zalon AJ, Zhang H, Morrison LM, Guan Y, Paulson HL, Shakkottai VG, McLoughlin HS
Cerebellum 2021 Feb;20(1):41-53. doi: 10.1007/s12311-020-01179-7. PMID: 32789747Free PMC Article

Prognosis

Everest E, Gulec B, Uygunoglu U
Cerebellum 2024 Jun;23(3):1235-1238. Epub 2023 Sep 16 doi: 10.1007/s12311-023-01605-6. PMID: 37715888
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
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
Ishida C, Komai K, Yonezawa K, Sakajiri K, Nitta E, Kawashima A, Yamada M
Neuropathology 2011 Oct;31(5):510-8. Epub 2010 Dec 6 doi: 10.1111/j.1440-1789.2010.01176.x. PMID: 21134000
Einum DD, Townsend JJ, Ptácek LJ, Fu YH
Neurogenetics 2001 Mar;3(2):83-90. doi: 10.1007/s100480000100. PMID: 11354830

Clinical prediction guides

Ye ZX, Bi J, Qiu LL, Chen XY, Li MC, Chen XY, Qiu YS, Yuan RY, Yu XT, Huang CY, Cheng B, Lin W, Chen WJ, Hu JP, Fu Y, Wang N, Gan SR; OSCCAR Investigators
J Neurol 2024 Feb;271(2):918-928. Epub 2023 Oct 18 doi: 10.1007/s00415-023-12042-0. PMID: 37848650
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
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
Lin J, Zhang L, Cao B, Wei Q, Ou R, Hou Y, Xu X, Liu K, Gu X, Shang H
BMC Neurol 2021 Jan 19;21(1):28. doi: 10.1186/s12883-021-02057-3. PMID: 33468086Free PMC Article
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

Recent systematic reviews

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

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