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Spinocerebellar ataxia, autosomal recessive 26(SCAR26)

MedGen UID:
1617917
Concept ID:
C4539948
Disease or Syndrome
Synonyms: SCAR26; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
 
Gene (location): XRCC1 (19q13.31)
 
Monarch Initiative: MONDO:0033116
OMIM®: 617633

Clinical features

From HPO
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
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.
Unsteady gait
MedGen UID:
68544
Concept ID:
C0231686
Finding
A shaky or wobbly manner of walking.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Dysdiadochokinesis
MedGen UID:
115975
Concept ID:
C0234979
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.
Positive Romberg sign
MedGen UID:
66017
Concept ID:
C0240914
Finding
The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.
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.
Sensorimotor neuropathy
MedGen UID:
207266
Concept ID:
C1112256
Disease or Syndrome
Impaired distal vibration sensation
MedGen UID:
381262
Concept ID:
C1853767
Finding
A decrease in the ability to perceive vibration in the distal portions of the limbs.
Oculomotor apraxia
MedGen UID:
483686
Concept ID:
C3489733
Disease or Syndrome
Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
Impaired distal proprioception
MedGen UID:
867227
Concept ID:
C4021585
Finding
A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.
Hypermetric saccades
MedGen UID:
140835
Concept ID:
C0423083
Finding
A saccade that overshoots the target with the dynamic saccade.
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.

Recent clinical studies

Etiology

da Costa SCG, Rezende Filho FM, de Freitas JL, de Assis Pereira Matos PCA, Della-Ripa B, França MC Jr, Marques W Junior, Santos M, Cronemberger IVB, Vale TC, Kok F, Alonso I, Pedroso JL, Barsottini OGP
Mov Disord 2022 Jun;37(6):1309-1316. Epub 2022 Apr 14 doi: 10.1002/mds.29015. PMID: 35426160
Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J
Neurology 2019 Oct 15;93(16):e1543-e1549. Epub 2019 Sep 18 doi: 10.1212/WNL.0000000000008313. PMID: 31534027Free PMC Article
Lai KL, Liao YC, Tsai PC, Hsiao CT, Soong BW, Lee YC
Parkinsonism Relat Disord 2019 Sep;66:220-223. Epub 2019 Aug 7 doi: 10.1016/j.parkreldis.2019.08.004. PMID: 31422002
Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A
Eur J Neurol 2019 Jan;26(1):80-86. Epub 2018 Sep 3 doi: 10.1111/ene.13768. PMID: 30098094
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

Karuvath RH, Patwari S, Chadaga H
Radiology 2021 Sep;300(3):730-732. doi: 10.1148/radiol.2021203053. PMID: 34424787
Ahmed O, Felimban Y, Almehdar A
Hematology 2021 Dec;26(1):348-354. doi: 10.1080/16078454.2021.1908725. PMID: 33843495
Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J
Neurology 2019 Oct 15;93(16):e1543-e1549. Epub 2019 Sep 18 doi: 10.1212/WNL.0000000000008313. PMID: 31534027Free PMC Article
Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A
Eur J Neurol 2019 Jan;26(1):80-86. Epub 2018 Sep 3 doi: 10.1111/ene.13768. PMID: 30098094
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

Therapy

Ahmed O, Felimban Y, Almehdar A
Hematology 2021 Dec;26(1):348-354. doi: 10.1080/16078454.2021.1908725. PMID: 33843495
Rosafio F, Cavallieri F, Guaraldi P, Taroni F, Nichelli PF, Mandrioli J
Clin Neurol Neurosurg 2016 Apr;143:1-3. Epub 2016 Feb 4 doi: 10.1016/j.clineuro.2016.01.032. PMID: 26874936
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

Prognosis

Durand CM, Angelini C, Michaud V, Delleci C, Coupry I, Goizet C, Trimouille A
BMC Neurol 2022 Feb 12;22(1):53. doi: 10.1186/s12883-022-02553-0. PMID: 35151251Free PMC Article
Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J
Neurology 2019 Oct 15;93(16):e1543-e1549. Epub 2019 Sep 18 doi: 10.1212/WNL.0000000000008313. PMID: 31534027Free PMC Article
Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A
Eur J Neurol 2019 Jan;26(1):80-86. Epub 2018 Sep 3 doi: 10.1111/ene.13768. PMID: 30098094
Su Y, Swift M
Ann Intern Med 2000 Nov 21;133(10):770-8. doi: 10.7326/0003-4819-133-10-200011210-00009. PMID: 11085839
Swift M, Morrell D, Massey RB, Chase CL
N Engl J Med 1991 Dec 26;325(26):1831-6. doi: 10.1056/NEJM199112263252602. PMID: 1961222

Clinical prediction guides

Velázquez-Pérez L, Medrano-Montero J, Rodríguez-Labrada R, Canales-Ochoa N, Campins Alí J, Carrillo Rodes FJ, Rodríguez Graña T, Hernández Oliver MO, Aguilera Rodríguez R, Domínguez Barrios Y, Torres Vega R, Flores Angulo L, Cordero Navarro NY, Sigler Villanueva AA, Gámez Rodríguez O, Sagaró Zambrano I, Navas Napóles NY, García Zacarías J, Serrano Barrera OR, Ramírez Bautista MB, Estupiñán Rodríguez A, Guerra Rondón LA, Vázquez-Mojena Y, González-Zaldivar Y, Almaguer Mederos LE, Leyva-Mérida A; Cuban Hereditary Ataxias Network
Cerebellum 2020 Apr;19(2):252-264. doi: 10.1007/s12311-020-01107-9. PMID: 31981095
Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J
Neurology 2019 Oct 15;93(16):e1543-e1549. Epub 2019 Sep 18 doi: 10.1212/WNL.0000000000008313. PMID: 31534027Free PMC Article
Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A
Eur J Neurol 2019 Jan;26(1):80-86. Epub 2018 Sep 3 doi: 10.1111/ene.13768. PMID: 30098094
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
Kieslich M, Hoche F, Reichenbach J, Weidauer S, Porto L, Vlaho S, Schubert R, Zielen S
Cerebellum 2010 Jun;9(2):190-7. doi: 10.1007/s12311-009-0138-0. PMID: 19898915

Recent systematic reviews

Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

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