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Spinocerebellar ataxia, autosomal recessive 24(SCAR24)

MedGen UID:
934666
Concept ID:
C4310699
Disease or Syndrome
Synonym: SCAR24
 
Gene (location): UBA5 (3q22.1)
 
Monarch Initiative: MONDO:0014934
OMIM®: 617133

Definition

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene. [from MONDO]

Clinical features

From HPO
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.
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.
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.
Limb ataxia
MedGen UID:
196692
Concept ID:
C0750937
Finding
A kind of ataxia that affects movements of the extremities.
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.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.

Recent clinical studies

Etiology

Milne SC, Roberts M, Williams S, Chua J, Grootendorst AC, Agostinelli G, Grobler AC, Ross HL, Robinson A, Grove K, Modderman G, Price A, Thomson M, Massey L, Liang C, Kumar KR, Dalziel K, Burns J, Sue CM, Pathirana PN, Horne M, Gelfand N, Curd H, Szmulewicz D, Corben LA, Delatycki MB
Ann Neurol 2025 Mar;97(3):409-424. Epub 2024 Nov 9 doi: 10.1002/ana.27130. PMID: 39520242
Aida I, Ozawa T, Fujinaka H, Goto K, Ohta K, Nakajima T
Intern Med 2021 Dec 15;60(24):3963-3967. Epub 2021 Jun 12 doi: 10.2169/internalmedicine.7401-21. PMID: 34121011Free PMC Article
Mutlu-Albayrak H, Kırat E, Gürbüz G
Neurogenetics 2020 Jan;21(1):59-66. Epub 2019 Nov 19 doi: 10.1007/s10048-019-00597-y. PMID: 31741144
Bouhlal Y, El-Euch-Fayeche G, Amouri R, Hentati F
Acta Myol 2005 Oct;24(2):155-61. PMID: 16550933
Schroeder SA, Swift M, Sandoval C, Langston C
Pediatr Pulmonol 2005 Jun;39(6):537-43. doi: 10.1002/ppul.20209. PMID: 15789441

Diagnosis

Lima SM, Caltagirone M, Messina C, Quartetti U, Rini N, D'Amico F, Brighina F, Di Stefano V
J Neurol 2025 Nov 1;272(11):742. doi: 10.1007/s00415-025-13487-1. PMID: 41176519Free PMC Article
Novis LE, Silva TYT, Pedroso JL, Barsottini OGP
Cerebellum 2025 Feb 8;24(2):45. doi: 10.1007/s12311-025-01798-y. PMID: 39920364
Aida I, Ozawa T, Fujinaka H, Goto K, Ohta K, Nakajima T
Intern Med 2021 Dec 15;60(24):3963-3967. Epub 2021 Jun 12 doi: 10.2169/internalmedicine.7401-21. PMID: 34121011Free PMC Article
Mutlu-Albayrak H, Kırat E, Gürbüz G
Neurogenetics 2020 Jan;21(1):59-66. Epub 2019 Nov 19 doi: 10.1007/s10048-019-00597-y. PMID: 31741144
Canet-Pons J, Schubert R, Duecker RP, Schrewe R, Wölke S, Kieslich M, Schnölzer M, Chiocchetti A, Auburger G, Zielen S, Warnken U
Neurogenetics 2018 Dec;19(4):237-255. Epub 2018 Oct 21 doi: 10.1007/s10048-018-0557-5. PMID: 30343341

Therapy

Milne SC, Roberts M, Williams S, Chua J, Grootendorst AC, Agostinelli G, Grobler AC, Ross HL, Robinson A, Grove K, Modderman G, Price A, Thomson M, Massey L, Liang C, Kumar KR, Dalziel K, Burns J, Sue CM, Pathirana PN, Horne M, Gelfand N, Curd H, Szmulewicz D, Corben LA, Delatycki MB
Ann Neurol 2025 Mar;97(3):409-424. Epub 2024 Nov 9 doi: 10.1002/ana.27130. PMID: 39520242
Lockman JL, Iskander AJ, Bembea M, Crawford TO, Lederman HM, McGrath-Morrow S, Easley RB
Paediatr Anaesth 2012 Mar;22(3):256-62. Epub 2011 Nov 21 doi: 10.1111/j.1460-9592.2011.03739.x. PMID: 22098343
Berger JR, Weaver A, Greenlee J
Neurology 2008 Jun 3;70(23):2248-51. doi: 10.1212/01.wnl.0000313837.45525.b6. PMID: 18519874
Koksal Y, Caliskan U, Ucar C, Yurtcu M, Artac H, Ilerisoy-Yakut Z, Reisli I
Pediatr Hematol Oncol 2007 Sep;24(6):431-6. doi: 10.1080/08880010701451434. PMID: 17710660
Schroeder SA, Swift M, Sandoval C, Langston C
Pediatr Pulmonol 2005 Jun;39(6):537-43. doi: 10.1002/ppul.20209. PMID: 15789441

Prognosis

Jenni R, Klaa H, Chikhaoui A, Zayoud K, Cochet E, Kraoua I, Burglen L, Yacoub-Youssef H
J Transl Med 2026 Feb 19;24(1) doi: 10.1186/s12967-026-07871-2. PMID: 41715124Free PMC Article
Lima SM, Caltagirone M, Messina C, Quartetti U, Rini N, D'Amico F, Brighina F, Di Stefano V
J Neurol 2025 Nov 1;272(11):742. doi: 10.1007/s00415-025-13487-1. PMID: 41176519Free PMC Article
Scaravilli A, Negroni D, Senatore C, Santorelli FM, Cocozza S
Cerebellum 2025 Apr 30;24(4):91. doi: 10.1007/s12311-025-01842-x. PMID: 40304869Free PMC Article
Koksal Y, Caliskan U, Ucar C, Yurtcu M, Artac H, Ilerisoy-Yakut Z, Reisli I
Pediatr Hematol Oncol 2007 Sep;24(6):431-6. doi: 10.1080/08880010701451434. PMID: 17710660
Schroeder SA, Swift M, Sandoval C, Langston C
Pediatr Pulmonol 2005 Jun;39(6):537-43. doi: 10.1002/ppul.20209. PMID: 15789441

Clinical prediction guides

Lima SM, Caltagirone M, Messina C, Quartetti U, Rini N, D'Amico F, Brighina F, Di Stefano V
J Neurol 2025 Nov 1;272(11):742. doi: 10.1007/s00415-025-13487-1. PMID: 41176519Free PMC Article
Novis LE, Silva TYT, Pedroso JL, Barsottini OGP
Cerebellum 2025 Feb 8;24(2):45. doi: 10.1007/s12311-025-01798-y. PMID: 39920364
Milne SC, Roberts M, Williams S, Chua J, Grootendorst AC, Agostinelli G, Grobler AC, Ross HL, Robinson A, Grove K, Modderman G, Price A, Thomson M, Massey L, Liang C, Kumar KR, Dalziel K, Burns J, Sue CM, Pathirana PN, Horne M, Gelfand N, Curd H, Szmulewicz D, Corben LA, Delatycki MB
Ann Neurol 2025 Mar;97(3):409-424. Epub 2024 Nov 9 doi: 10.1002/ana.27130. PMID: 39520242
Canet-Pons J, Schubert R, Duecker RP, Schrewe R, Wölke S, Kieslich M, Schnölzer M, Chiocchetti A, Auburger G, Zielen S, Warnken U
Neurogenetics 2018 Dec;19(4):237-255. Epub 2018 Oct 21 doi: 10.1007/s10048-018-0557-5. PMID: 30343341
Goto M, Okada M, Komaki H, Sugai K, Sasaki M, Noguchi S, Nonaka I, Nishino I, Hayashi YK
Orphanet J Rare Dis 2014 Apr 23;9:58. doi: 10.1186/1750-1172-9-58. PMID: 24755310Free PMC Article

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