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Spinocerebellar ataxia, X-linked 2

MedGen UID:
375535
Concept ID:
C1844885
Disease or Syndrome
Synonym: Cerebellar ataxia with extrapyramidal involvement early-onset
 
Monarch Initiative: MONDO:0010548
OMIM®: 302600

Clinical features

From HPO
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).
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).

Professional guidelines

PubMed

Boyarchuk O, Yarema N, Kravets V, Shulhai O, Shymanska I, Chornomydz I, Hariyan T, Volianska L, Kinash M, Makukh H
Front Immunol 2022;13:999664. Epub 2022 Sep 15 doi: 10.3389/fimmu.2022.999664. PMID: 36189201Free PMC Article
Cardoso F
Neurodegener Dis Manag 2014;4(1):67-72. doi: 10.2217/nmt.13.78. PMID: 24640980

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, Habas C
Handb Clin Neurol 2016;135:479-491. doi: 10.1016/B978-0-444-53485-9.00023-4. PMID: 27432679
Storey E
Semin Neurol 2014 Jul;34(3):280-92. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386766. PMID: 25192506
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
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Diagnosis

Manto M, Habas C
Handb Clin Neurol 2016;135:479-491. doi: 10.1016/B978-0-444-53485-9.00023-4. PMID: 27432679
Pennuto M, Gozes I
J Mol Neurosci 2016 Mar;58(3):313-6. Epub 2016 Feb 13 doi: 10.1007/s12031-016-0720-0. PMID: 26875173
Storey E
Semin Neurol 2014 Jul;34(3):280-92. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386766. PMID: 25192506
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article
Banfi S, Zoghbi HY
Baillieres Clin Neurol 1994 Aug;3(2):281-95. PMID: 7952848

Therapy

Zain R, Smith CIE
Neurotherapeutics 2019 Apr;16(2):248-262. doi: 10.1007/s13311-019-00712-9. PMID: 31098852Free PMC Article
Aghamohammadi A, Farhoudi A, Nikzad M, Moin M, Pourpak Z, Rezaei N, Gharagozlou M, Movahedi M, Atarod L, Afshar AA, Bazargan N, Hosseinpoor AR
Ann Allergy Asthma Immunol 2004 Jan;92(1):60-4. doi: 10.1016/S1081-1206(10)61711-5. PMID: 14756466

Prognosis

Manto M, Habas C
Handb Clin Neurol 2016;135:479-491. doi: 10.1016/B978-0-444-53485-9.00023-4. PMID: 27432679
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Clinical prediction guides

Abolhassani H, Vosughimotlagh A, Asano T, Landegren N, Boisson B, Delavari S, Bastard P, Aranda-Guillén M, Wang Y, Zuo F, Sardh F, Marcotte H, Du L, Zhang SY, Zhang Q, Rezaei N, Kämpe O, Casanova JL, Hammarström L, Pan-Hammarström Q
J Clin Immunol 2022 Jan;42(1):1-9. Epub 2021 Oct 23 doi: 10.1007/s10875-021-01151-y. PMID: 34686943Free PMC Article
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
Buchbinder D, Hauck F, Albert MH, Rack A, Bakhtiar S, Shcherbina A, Deripapa E, Sullivan KE, Perelygina L, Eloit M, Neven B, Pérot P, Moshous D, Suarez F, Bodemer C, Bonilla FA, Vaz LE, Krol AL, Klein C, Seppanen M, Nugent DJ, Singh J, Ochs HD
J Clin Immunol 2019 Jan;39(1):81-89. Epub 2019 Jan 3 doi: 10.1007/s10875-018-0581-0. PMID: 30607663Free PMC Article
Banfi S, Zoghbi HY
Baillieres Clin Neurol 1994 Aug;3(2):281-95. PMID: 7952848
Apak S, Yüksel M, Ozmen M, Saka N, Darendeliler F, Neuhäuser G
Am J Med Genet 1989 Oct;34(2):155-8. doi: 10.1002/ajmg.1320340203. PMID: 2816991

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