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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 dominant 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.

Professional guidelines

PubMed

van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA
Clin Genet 2016 Aug;90(2):105-17. Epub 2016 Jan 20 doi: 10.1111/cge.12710. PMID: 26662178

Recent clinical studies

Etiology

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
van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA
Clin Genet 2016 Aug;90(2):105-17. Epub 2016 Jan 20 doi: 10.1111/cge.12710. PMID: 26662178
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
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article

Diagnosis

Magri S, Nanetti L, Gellera C, Sarto E, Rizzo E, Mongelli A, Ricci B, Fancellu R, Sambati L, Cortelli P, Brusco A, Bruzzone MG, Mariotti C, Di Bella D, Taroni F
Genet Med 2022 Jan;24(1):29-40. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.08.003. PMID: 34906452
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
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article

Therapy

Pommerening H, van Dullemen S, Kieslich M, Schubert R, Zielen S, Voss S
Orphanet J Rare Dis 2015 Dec 9;10:155. doi: 10.1186/s13023-015-0373-z. PMID: 26645295Free PMC Article
Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB
Lancet Neurol 2015 Feb;14(2):174-82. Epub 2015 Jan 5 doi: 10.1016/S1474-4422(14)70321-7. PMID: 25566998
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
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

Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB
Lancet Neurol 2015 Feb;14(2):174-82. Epub 2015 Jan 5 doi: 10.1016/S1474-4422(14)70321-7. PMID: 25566998
McElroy JP, Krupp LB, Johnson BA, McCauley JL, Qi Z, Caillier SJ, Gourraud PA, Yu J, Nathanson L, Belman AL, Hauser SL, Waubant E, Hedges DJ, Oksenberg JR
Mult Scler 2013 Jul;19(8):1014-21. Epub 2012 Dec 13 doi: 10.1177/1352458512469696. PMID: 23239789Free 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
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article
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

Shakya S, Kumari R, Suroliya V, Tyagi N, Joshi A, Garg A, Singh I, Kalikavil Puthanveedu D, Cherian A, Mukerji M, Srivastava AK, Faruq M
Clin Genet 2019 Dec;96(6):566-574. Epub 2019 Sep 1 doi: 10.1111/cge.13625. PMID: 31429931
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
Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB
Lancet Neurol 2015 Feb;14(2):174-82. Epub 2015 Jan 5 doi: 10.1016/S1474-4422(14)70321-7. PMID: 25566998
Larivière R, Gaudet R, Gentil BJ, Girard M, Conte TC, Minotti S, Leclerc-Desaulniers K, Gehring K, McKinney RA, Shoubridge EA, McPherson PS, Durham HD, Brais B
Hum Mol Genet 2015 Feb 1;24(3):727-39. Epub 2014 Sep 26 doi: 10.1093/hmg/ddu491. PMID: 25260547Free PMC Article
Bouhlal Y, El-Euch-Fayeche G, Amouri R, Hentati F
Acta Myol 2005 Oct;24(2):155-61. PMID: 16550933

Recent systematic reviews

van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA
Clin Genet 2016 Aug;90(2):105-17. Epub 2016 Jan 20 doi: 10.1111/cge.12710. PMID: 26662178

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