U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Spinocerebellar ataxia type 42(SCA42)

MedGen UID:
902592
Concept ID:
C4225205
Disease or Syndrome
Synonyms: SCA42; SPINOCEREBELLAR ATAXIA 42
SNOMED CT: Spinocerebellar ataxia type 42 (1208513005)
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): CACNA1G (17q21.33)
 
Monarch Initiative: MONDO:0014776
OMIM®: 616795
Orphanet: ORPHA458803

Definition

Spinocerebellar ataxia-42 (SCA42) is an autosomal dominant neurologic disorder characterized predominantly by gait instability and additional cerebellar signs such as dysarthria, nystagmus, and saccadic pursuits. The age at onset and severity of the disorder is highly variable. The disorder is slowly progressive (Coutelier et al., 2015). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). [from OMIM]

Clinical features

From HPO
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
Urinary urgency
MedGen UID:
39315
Concept ID:
C0085606
Finding
Urge incontinence is the strong, sudden need to urinate.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
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).
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
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.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Unsteady gait
MedGen UID:
68544
Concept ID:
C0231686
Finding
A shaky or wobbly manner of walking.
Spastic gait
MedGen UID:
115907
Concept ID:
C0231687
Finding
Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.
Abnormal pyramidal sign
MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
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.
Loss of Purkinje cells in the cerebellar vermis
MedGen UID:
336510
Concept ID:
C1849146
Finding
Spastic ataxia
MedGen UID:
376528
Concept ID:
C1849156
Disease or Syndrome
Impaired vibration sensation at ankles
MedGen UID:
343107
Concept ID:
C1854372
Finding
A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.
Eyelid myokymia
MedGen UID:
1380696
Concept ID:
C4324277
Disease or Syndrome
Involuntary, fine, continuous, undulating contractions of the eyelid.
Diplopia
MedGen UID:
41600
Concept ID:
C0012569
Disease or Syndrome
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.
Saccadic smooth pursuit
MedGen UID:
373096
Concept ID:
C1836479
Finding
An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia type 42

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

Recent clinical studies

Etiology

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
Iwabuchi K, Koyano S, Yagishita S
Neuropathology 2022 Oct;42(5):379-393. Epub 2022 Jul 20 doi: 10.1111/neup.12823. PMID: 35859519
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
Hernandez-Castillo CR, Diaz R, Rezende TJR, Adanyeguh I, Harding IH, Mochel F, Fernandez-Ruiz J
AJNR Am J Neuroradiol 2021 Sep;42(9):1735-1739. Epub 2021 Jul 1 doi: 10.3174/ajnr.A7202. PMID: 34210665Free PMC Article
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

Theis M, Donath H, Woelke S, Bakhtiar S, Salzmann-Manrique E, Zielen S, Kieslich M
Eur J Neurol 2023 Dec;30(12):3842-3853. Epub 2023 Aug 16 doi: 10.1111/ene.16028. PMID: 37540892
Dulski J, Al-Shaikh RH, Prudencio M, Petrucelli L, Sulek A, Bernatowicz K, Sławek J, Wszolek ZK
Neurol Neurochir Pol 2023;57(3):310-313. Epub 2023 Jun 7 doi: 10.5603/PJNNS.a2023.0037. PMID: 37283503
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
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Zühlke C, Bürk K
Cerebellum 2007;6(4):300-7. Epub 2007 Jan 19 doi: 10.1080/14734220601136177. PMID: 17853080

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
Diaféria G, Bommarito S, Braga Neto P, Park SW, Padovani M, Haddad F, Haddad L, Voos MC, Chien HF, Pedroso JL, Barsottini O
Arq Neuropsiquiatr 2022 Oct;80(10):1017-1025. Epub 2022 Dec 19 doi: 10.1055/s-0042-1755203. PMID: 36535286Free PMC Article
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
Martins AC, Rieck M, Leotti VB, Saraiva-Pereira ML, Jardim LB
J Mol Neurosci 2021 Sep;71(9):1906-1913. Epub 2021 Jun 30 doi: 10.1007/s12031-021-01877-9. PMID: 34191270
Casas-Alba D, López-Sala L, Pérez-Ordóñez M, Mari-Vico R, Bolasell M, Martínez-Monseny AF, Muchart J, Fernández-Fernández JM, Martorell L, Serrano M
Am J Med Genet A 2021 Jan;185(1):256-260. Epub 2020 Oct 24 doi: 10.1002/ajmg.a.61939. PMID: 33098379

Prognosis

Iwabuchi K, Koyano S, Yagishita S
Neuropathology 2022 Oct;42(5):379-393. Epub 2022 Jul 20 doi: 10.1111/neup.12823. PMID: 35859519
Bian X, Wang S, Jin S, Xu S, Zhang H, Wang D, Shang W, Wang P
Neurol Sci 2021 Dec;42(12):5195-5203. Epub 2021 Apr 2 doi: 10.1007/s10072-021-05204-3. PMID: 33797620Free PMC Article
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123
Kim JY, Kim SY, Kim JM, Kim YK, Yoon KY, Kim JY, Lee BC, Kim JS, Paek SH, Park SS, Kim SE, Jeon BS
Neurology 2009 Apr 21;72(16):1385-9. doi: 10.1212/WNL.0b013e3181a18876. PMID: 19380697
Einum DD, Townsend JJ, Ptácek LJ, Fu YH
Neurogenetics 2001 Mar;3(2):83-90. doi: 10.1007/s100480000100. PMID: 11354830

Clinical prediction guides

Dulski J, Al-Shaikh RH, Prudencio M, Petrucelli L, Sulek A, Bernatowicz K, Sławek J, Wszolek ZK
Neurol Neurochir Pol 2023;57(3):310-313. Epub 2023 Jun 7 doi: 10.5603/PJNNS.a2023.0037. PMID: 37283503
Iwabuchi K, Koyano S, Yagishita S
Neuropathology 2022 Oct;42(5):379-393. Epub 2022 Jul 20 doi: 10.1111/neup.12823. PMID: 35859519
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
Hernandez-Castillo CR, Diaz R, Rezende TJR, Adanyeguh I, Harding IH, Mochel F, Fernandez-Ruiz J
AJNR Am J Neuroradiol 2021 Sep;42(9):1735-1739. Epub 2021 Jul 1 doi: 10.3174/ajnr.A7202. PMID: 34210665Free PMC Article
Yang L, Dong Y, Ma Y, Ni W, Wu ZY
Eur J Neurol 2021 Mar;28(3):955-964. Epub 2020 Dec 1 doi: 10.1111/ene.14601. PMID: 33070405

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
Sena LS, Dos Santos Pinheiro J, Hasan A, Saraiva-Pereira ML, Jardim LB
Clin Genet 2021 Sep;100(3):258-267. Epub 2021 May 27 doi: 10.1111/cge.13978. PMID: 33960424
Traschütz A, van Gaalen J, Oosterloo M, Vreeburg M, Kamsteeg EJ, Deininger N, Rieß O, Reimold M, Haack T, Schöls L, van de Warrenburg BP, Synofzik M
Parkinsonism Relat Disord 2019 May;62:215-220. Epub 2018 Nov 29 doi: 10.1016/j.parkreldis.2018.11.027. PMID: 30522958
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...