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X-linked progressive cerebellar ataxia(SCAX1; OPCAX)

MedGen UID:
163229
Concept ID:
C0796205
Disease or Syndrome
Synonyms: OLIVOPONTOCEREBELLAR ATROPHY, X-LINKED; OPCA, X-LINKED; Spinocerebellar ataxia, X-linked 1
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Gene (location): ATP2B3 (Xq28)
 
Monarch Initiative: MONDO:0010547
OMIM®: 302500
Orphanet: ORPHA1175

Definition

SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by Bertini et al., 2000). Genetic Heterogeneity of X-linked Spinocerebellar Ataxia X-linked recessive spinocerebellar ataxia (SCAX) is a clinically and genetically heterogeneous disorder. See also SCAX2 (302600), SCAX3 (301790), SCAX4 (301840), and SCAX5 (300703). SCAX6 (301310) is caused by mutation in the ABCB7 gene (300135). [from OMIM]

Clinical features

From HPO
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).
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.
Abnormality of extrapyramidal motor function
MedGen UID:
115941
Concept ID:
C0234133
Sign or Symptom
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
Action tremor
MedGen UID:
65875
Concept ID:
C0234376
Sign or Symptom
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
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.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intention tremor
MedGen UID:
1642960
Concept ID:
C4551520
Sign or Symptom
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Difficulty standing
MedGen UID:
69136
Concept ID:
C0241237
Sign or Symptom
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Slow saccadic eye movements
MedGen UID:
232942
Concept ID:
C1321329
Finding
An abnormally slow velocity of the saccadic eye movements.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked progressive cerebellar ataxia
Follow this link to review classifications for X-linked progressive cerebellar ataxia in Orphanet.

Professional guidelines

PubMed

Braga Neto P, Pedroso JL, Kuo SH, Marcondes Junior CF, Teive HA, Barsottini OG
Arq Neuropsiquiatr 2016 Mar;74(3):244-52. doi: 10.1590/0004-282X20160038. PMID: 27050855Free PMC Article

Recent clinical studies

Etiology

Quelle-Regaldie A, Sobrido-Cameán D, Barreiro-Iglesias A, Sobrido MJ, Sánchez L
Cells 2021 Feb 17;10(2) doi: 10.3390/cells10020421. PMID: 33671313Free PMC Article
Manto M, Gandini J, Feil K, Strupp M
Curr Opin Neurol 2020 Feb;33(1):150-160. doi: 10.1097/WCO.0000000000000774. PMID: 31789706
Bertini E, Zanni G, Boltshauser E
Handb Clin Neurol 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. PMID: 29891079
Fan HC, Ho LI, Chi CS, Chen SJ, Peng GS, Chan TM, Lin SZ, Harn HJ
Cell Transplant 2014;23(4-5):441-58. doi: 10.3727/096368914X678454. PMID: 24816443
Evidente VG, Gwinn-Hardy KA, Caviness JN, Gilman S
Mayo Clin Proc 2000 May;75(5):475-90. doi: 10.4065/75.5.475. PMID: 10807077

Diagnosis

Rudaks LI, Yeow D, Ng K, Deveson IW, Kennerson ML, Kumar KR
Cerebellum 2024 Oct;23(5):2152-2168. Epub 2024 May 18 doi: 10.1007/s12311-024-01703-z. PMID: 38760634Free PMC Article
Manto M, Gandini J, Feil K, Strupp M
Curr Opin Neurol 2020 Feb;33(1):150-160. doi: 10.1097/WCO.0000000000000774. PMID: 31789706
Braga Neto P, Pedroso JL, Kuo SH, Marcondes Junior CF, Teive HA, Barsottini OG
Arq Neuropsiquiatr 2016 Mar;74(3):244-52. doi: 10.1590/0004-282X20160038. PMID: 27050855Free PMC Article
Matilla-Dueñas A
Adv Exp Med Biol 2012;724:172-88. doi: 10.1007/978-1-4614-0653-2_14. PMID: 22411243
Evidente VG, Gwinn-Hardy KA, Caviness JN, Gilman S
Mayo Clin Proc 2000 May;75(5):475-90. doi: 10.4065/75.5.475. PMID: 10807077

Therapy

Zhao C, Liu Y, Wang Y, Li H, Zhang B, Yue Y, Zhang J
BMC Neurol 2020 Apr 20;20(1):145. doi: 10.1186/s12883-020-01726-z. PMID: 32312236Free PMC Article
Heimer G, Eyal E, Zhu X, Ruzzo EK, Marek-Yagel D, Sagiv D, Anikster Y, Reznik-Wolf H, Pras E, Oz Levi D, Lancet D, Ben-Zeev B, Nissenkorn A
Eur J Paediatr Neurol 2018 Jan;22(1):93-101. Epub 2017 Sep 15 doi: 10.1016/j.ejpn.2017.09.004. PMID: 28967629

Prognosis

Bertini E, Zanni G, Boltshauser E
Handb Clin Neurol 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. PMID: 29891079
Matilla-Dueñas A
Adv Exp Med Biol 2012;724:172-88. doi: 10.1007/978-1-4614-0653-2_14. PMID: 22411243
Le Ber I, Clot F, Vercueil L, Camuzat A, Viémont M, Benamar N, De Liège P, Ouvrard-Hernandez AM, Pollak P, Stevanin G, Brice A, Dürr A
Neurology 2006 Nov 28;67(10):1769-73. doi: 10.1212/01.wnl.0000244484.60489.50. PMID: 17130408
Titomanlio L, Pierri NB, Romano A, Imperati F, Borrelli M, Barletta V, Diano AA, Castaldo I, Santoro L, Del Giudice E
Am J Med Genet A 2005 Jul 15;136(2):198-200. doi: 10.1002/ajmg.a.30795. PMID: 15940696
Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM
Hum Mol Genet 1999 May;8(5):743-9. doi: 10.1093/hmg/8.5.743. PMID: 10196363

Clinical prediction guides

Quelle-Regaldie A, Sobrido-Cameán D, Barreiro-Iglesias A, Sobrido MJ, Sánchez L
Cells 2021 Feb 17;10(2) doi: 10.3390/cells10020421. PMID: 33671313Free PMC Article
Heimer G, Eyal E, Zhu X, Ruzzo EK, Marek-Yagel D, Sagiv D, Anikster Y, Reznik-Wolf H, Pras E, Oz Levi D, Lancet D, Ben-Zeev B, Nissenkorn A
Eur J Paediatr Neurol 2018 Jan;22(1):93-101. Epub 2017 Sep 15 doi: 10.1016/j.ejpn.2017.09.004. PMID: 28967629
Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM
Hum Mol Genet 1999 May;8(5):743-9. doi: 10.1093/hmg/8.5.743. PMID: 10196363
Illarioshkin SN, Tanaka H, Markova ED, Nikolskaya NN, Ivanova-Smolenskaya IA, Tsuji S
Ann Neurol 1996 Jul;40(1):75-83. doi: 10.1002/ana.410400113. PMID: 8687195
Banfi S, Zoghbi HY
Baillieres Clin Neurol 1994 Aug;3(2):281-95. PMID: 7952848

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