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Posterior column ataxia

MedGen UID:
357379
Concept ID:
C1867923
Disease or Syndrome
Synonym: Biemond ataxia
 
Monarch Initiative: MONDO:0008299
OMIM®: 176250

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).
Impaired vibratory sensation
MedGen UID:
220959
Concept ID:
C1295585
Finding
A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Impaired proprioception
MedGen UID:
346424
Concept ID:
C1856691
Finding
A loss or impairment of the sensation of the relative position of parts of the body and joint position.
Reduced tendon reflexes
MedGen UID:
356648
Concept ID:
C1866934
Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.

Recent clinical studies

Etiology

Son Y, Kenny TC, Khan A, Birsoy K, Hite RK
Nature 2024 May;629(8012):710-716. Epub 2024 May 1 doi: 10.1038/s41586-024-07374-4. PMID: 38693265Free PMC Article
Chiabrando D, Scietti L, Prajica AG, Bertino F, Tolosano E, Magnani F
Protein Expr Purif 2020 Aug;172:105637. Epub 2020 Apr 8 doi: 10.1016/j.pep.2020.105637. PMID: 32278001
Lee J, Scanga HL, Dansingani KK, Taubenslag KJ, Zlotcavitch L, Chauhan BK, Sylvester CL, Morton DH, Nischal KK
Ophthalmic Genet 2018 Dec;39(6):735-740. Epub 2018 Nov 16 doi: 10.1080/13816810.2018.1547913. PMID: 30444160
Yusuf IH, Shanks ME, Clouston P, MacLaren RE
Ophthalmic Genet 2018 Apr;39(2):263-267. Epub 2017 Dec 1 doi: 10.1080/13816810.2017.1408848. PMID: 29192808Free PMC Article
Chiabrando D, Castori M, di Rocco M, Ungelenk M, Gießelmann S, Di Capua M, Madeo A, Grammatico P, Bartsch S, Hübner CA, Altruda F, Silengo L, Tolosano E, Kurth I
PLoS Genet 2016 Dec;12(12):e1006461. Epub 2016 Dec 6 doi: 10.1371/journal.pgen.1006461. PMID: 27923065Free PMC Article

Diagnosis

Vaughan DP, Costello DJ
Am J Med Genet A 2022 Apr;188(4):1259-1262. Epub 2021 Dec 20 doi: 10.1002/ajmg.a.62612. PMID: 34931442
Lachmann ES, Mautone L, Dulz S
Ophthalmic Genet 2021 Dec;42(6):784-786. Epub 2021 Aug 25 doi: 10.1080/13816810.2021.1970196. PMID: 34433355
Kuehlewein L, Schöls L, Llavona P, Grimm A, Biskup S, Zrenner E, Kohl S
Graefes Arch Clin Exp Ophthalmol 2019 Mar;257(3):629-638. Epub 2019 Jan 17 doi: 10.1007/s00417-018-04233-7. PMID: 30656474
Lee J, Scanga HL, Dansingani KK, Taubenslag KJ, Zlotcavitch L, Chauhan BK, Sylvester CL, Morton DH, Nischal KK
Ophthalmic Genet 2018 Dec;39(6):735-740. Epub 2018 Nov 16 doi: 10.1080/13816810.2018.1547913. PMID: 30444160
Higgins JJ, Kluetzman K, Berciano J, Combarros O, Loveless JM
Mov Disord 2000 May;15(3):575-8. doi: 10.1002/1531-8257(200005)15:3<575::AID-MDS1023>3.0.CO;2-7. PMID: 10830426

Prognosis

Yusuf IH, Shanks ME, Clouston P, MacLaren RE
Ophthalmic Genet 2018 Apr;39(2):263-267. Epub 2017 Dec 1 doi: 10.1080/13816810.2017.1408848. PMID: 29192808Free PMC Article
Castori M, Morlino S, Ungelenk M, Pareyson D, Salsano E, Grammatico P, Tolosano E, Kurth I, Chiabrando D
Am J Med Genet B Neuropsychiatr Genet 2017 Oct;174(7):732-739. Epub 2017 Aug 2 doi: 10.1002/ajmg.b.32570. PMID: 28766925
Shaibani A, Wong LJ, Wei Zhang V, Lewis RA, Shinawi M
Int J Neurosci 2015 Jan;125(1):43-9. Epub 2014 May 16 doi: 10.3109/00207454.2014.904858. PMID: 24628582

Clinical prediction guides

Dockery A, Carrigan M, Wynne N, Stephenson K, Keegan D, Kenna PF, Farrar GJ
Adv Exp Med Biol 2019;1185:203-207. doi: 10.1007/978-3-030-27378-1_33. PMID: 31884612
Yusuf IH, Shanks ME, Clouston P, MacLaren RE
Ophthalmic Genet 2018 Apr;39(2):263-267. Epub 2017 Dec 1 doi: 10.1080/13816810.2017.1408848. PMID: 29192808Free PMC Article
Khan AA, Quigley JG
Mol Aspects Med 2013 Apr-Jun;34(2-3):669-82. doi: 10.1016/j.mam.2012.07.013. PMID: 23506900Free PMC Article
Higgins JJ, Kluetzman K, Berciano J, Combarros O, Loveless JM
Mov Disord 2000 May;15(3):575-8. doi: 10.1002/1531-8257(200005)15:3<575::AID-MDS1023>3.0.CO;2-7. PMID: 10830426
Higgins JJ, Morton DH, Loveless JM
Neurology 1999 Jan 1;52(1):146-50. doi: 10.1212/wnl.52.1.146. PMID: 9921862

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