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Multiple system atrophy, cerebellar type

MedGen UID:
1843304
•Concept ID:
C5554234
•
Disease or Syndrome
Synonyms: MSA, cerebellar type; MSA-c; multiple system atrophy, cerebellar type; Sporadic olivopontocerebellar atrophy type 1; sporadic olivopontocerebellar atrophy type 1; Sporadic OPCA type 1; sporadic OPCA type 1
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0016418
Orphanet: ORPHA227510

Definition

Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria). [from ORDO]

Professional guidelines

PubMed

Swallowing Outcomes Following Voice Therapy in Multiple System Atrophy with Dysphagia: Comparison of Treatment Efficacy with Parkinson's Disease.
Park A, Jang SJ, Kim NE, Kim TH, Sohn YH, Kim H, Cho SR
Dysphagia 2022 Feb;37(1):198-206. Epub 2021 Mar 5 doi: 10.1007/s00455-021-10265-9. PMID: 33666739Free PMC Article
Brain MRI of multiple system atrophy of cerebellar type: a prospective study with implications for diagnosis criteria.
Carré G, Dietemann JL, Gebus O, Montaut S, Lagha-Boukbiza O, Wirth T, Kremer S, Namer IJ, Anheim M, Tranchant C
J Neurol 2020 May;267(5):1269-1277. Epub 2020 Jan 14 doi: 10.1007/s00415-020-09702-w. PMID: 31938861
Additional Value of Early-Phase 18F-FP-CIT PET Image for Differential Diagnosis of Atypical Parkinsonism.
Jin S, Oh M, Oh SJ, Oh JS, Lee SJ, Chung SJ, Kim JS
Clin Nucl Med 2017 Feb;42(2):e80-e87. doi: 10.1097/RLU.0000000000001474. PMID: 27922865

Recent clinical studies

Etiology

Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study.
Bogdan T, Wirth T, Iosif A, Schalk A, Montaut S, Bonnard C, Carre G, Lagha-Boukbiza O, Reschwein C, Albugues E, Demuth S, Landsberger H, Einsiedler M, Parratte T, Nguyen A, Lamy F, Durand H, Fahrer P, Voulleminot P, Bigaut K, Chanson JB, Nicolas G, Chelly J, Cazeneuve C, Koenig M, Bund C, Namer IJ, Kremer S, Calmels N, Tranchant C, Anheim M
J Neurol 2022 Dec;269(12):6354-6365. Epub 2022 Jul 23 doi: 10.1007/s00415-022-11253-1. PMID: 35869996
Swallowing Outcomes Following Voice Therapy in Multiple System Atrophy with Dysphagia: Comparison of Treatment Efficacy with Parkinson's Disease.
Park A, Jang SJ, Kim NE, Kim TH, Sohn YH, Kim H, Cho SR
Dysphagia 2022 Feb;37(1):198-206. Epub 2021 Mar 5 doi: 10.1007/s00455-021-10265-9. PMID: 33666739Free PMC Article
Dopamine transporter imaging for the diagnosis of multiple system atrophy cerebellar type.
Vergnet S, Hives F, Foubert-Samier A, Payoux P, Fernandez P, Meyer M, Dupouy J, Brefel-Courbon C, Ory-Magne F, Rascol O, Tison F, Pavy-Le Traon A, Meissner WG
Parkinsonism Relat Disord 2019 Jun;63:199-203. Epub 2019 Feb 5 doi: 10.1016/j.parkreldis.2019.02.006. PMID: 30745212
What Is Behind Cerebellar Vertigo and Dizziness?
Feil K, Strobl R, Schindler A, Krafczyk S, Goldschagg N, Frenzel C, Glaser M, Schöberl F, Zwergal A, Strupp M
Cerebellum 2019 Jun;18(3):320-332. doi: 10.1007/s12311-018-0992-8. PMID: 30552638
The Diagnosis and Natural History of Multiple System Atrophy, Cerebellar Type.
Lin DJ, Hermann KL, Schmahmann JD
Cerebellum 2016 Dec;15(6):663-679. doi: 10.1007/s12311-015-0728-y. PMID: 26467153Free PMC Article

Diagnosis

Video Representation of Dopamine-Responsive Multiple System Atrophy Cerebellar Type.
Doan J, Sheikh I, Elmer L, Rashid M
Am J Case Rep 2021 Nov 15;22:e933995. doi: 10.12659/AJCR.933995. PMID: 34776506Free PMC Article
Dopamine transporter imaging for the diagnosis of multiple system atrophy cerebellar type.
Vergnet S, Hives F, Foubert-Samier A, Payoux P, Fernandez P, Meyer M, Dupouy J, Brefel-Courbon C, Ory-Magne F, Rascol O, Tison F, Pavy-Le Traon A, Meissner WG
Parkinsonism Relat Disord 2019 Jun;63:199-203. Epub 2019 Feb 5 doi: 10.1016/j.parkreldis.2019.02.006. PMID: 30745212
What Is Behind Cerebellar Vertigo and Dizziness?
Feil K, Strobl R, Schindler A, Krafczyk S, Goldschagg N, Frenzel C, Glaser M, Schöberl F, Zwergal A, Strupp M
Cerebellum 2019 Jun;18(3):320-332. doi: 10.1007/s12311-018-0992-8. PMID: 30552638
Neuroimaging Applications in Chronic Ataxias.
Mascalchi M, Vella A
Int Rev Neurobiol 2018;143:109-162. Epub 2018 Oct 29 doi: 10.1016/bs.irn.2018.09.011. PMID: 30473193
The Diagnosis and Natural History of Multiple System Atrophy, Cerebellar Type.
Lin DJ, Hermann KL, Schmahmann JD
Cerebellum 2016 Dec;15(6):663-679. doi: 10.1007/s12311-015-0728-y. PMID: 26467153Free PMC Article

Therapy

Amelioration of motor and nonmotor symptoms in cortical cerebellar atrophy and multiple system atrophy-cerebellar type by inpatient rehabilitation: a retrospective study.
Sonoda Y, Yamanaka Y, Sawano S, Komada R, Kugo M, Kitamura A, Ogawa N, Yamakawa I, Kim H, Sanada M, Imai S, Urushitani M
Int J Rehabil Res 2021 Jun 1;44(2):104-109. doi: 10.1097/MRR.0000000000000455. PMID: 33481455
An autopsy case of progressive multifocal leukoencephalopathy after rituximab therapy for malignant lymphoma.
Muto R, Sugita Y, Momosaki S, Ito Y, Wakugawa Y, Ohshima K
Neuropathology 2019 Feb;39(1):58-63. Epub 2018 Dec 3 doi: 10.1111/neup.12526. PMID: 30511425
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T
Neurology 2017 Sep 5;89(10):1043-1049. Epub 2017 Aug 9 doi: 10.1212/WNL.0000000000004311. PMID: 28794257
Treatment of Spinocerebellar Ataxia With Mesenchymal Stem Cells: A Phase I/IIa Clinical Study.
Tsai YA, Liu RS, Lirng JF, Yang BH, Chang CH, Wang YC, Wu YS, Ho JH, Lee OK, Soong BW
Cell Transplant 2017 Mar 13;26(3):503-512. Epub 2017 Feb 14 doi: 10.3727/096368916X694373. PMID: 28195034Free PMC Article
Differential Progression of Dysphagia in Heredity and Sporadic Ataxias Involving Multiple Systems.
Isono C, Hirano M, Sakamoto H, Ueno S, Kusunoki S, Nakamura Y
Eur Neurol 2015;74(5-6):237-42. Epub 2015 Dec 1 doi: 10.1159/000442252. PMID: 26618669

Prognosis

Very late-onset Friedreich's ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type.
Vidhale TA, Gupta HR, Pj R, Gandhi C
BMJ Case Rep 2021 Jul 23;14(7) doi: 10.1136/bcr-2021-242073. PMID: 34301694Free PMC Article
A Life-threatening Complication of Multiple System Atrophy.
Ismail M, Ralls FM, Brown LK
Chest 2021 Mar;159(3):e163-e166. doi: 10.1016/j.chest.2020.09.262. PMID: 33678286
Clinics in diagnostic imaging (191). Multiple system atrophy-cerebellar type (MSA-C).
Pearce MC, Choy G, Chen RC
Singapore Med J 2018 Oct;59(10):550-554. doi: 10.11622/smedj.2018128. PMID: 30386855Free PMC Article
The Diagnosis and Natural History of Multiple System Atrophy, Cerebellar Type.
Lin DJ, Hermann KL, Schmahmann JD
Cerebellum 2016 Dec;15(6):663-679. doi: 10.1007/s12311-015-0728-y. PMID: 26467153Free PMC Article
Clinical analysis of the treatment of spinocerebellar ataxia and multiple system atrophy-cerebellar type with umbilical cord mesenchymal stromal cells.
Dongmei H, Jing L, Mei X, Ling Z, Hongmin Y, Zhidong W, Li D, Zikuan G, Hengxiang W
Cytotherapy 2011 Sep;13(8):913-7. Epub 2011 May 5 doi: 10.3109/14653249.2011.579958. PMID: 21545234

Clinical prediction guides

Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study.
Bogdan T, Wirth T, Iosif A, Schalk A, Montaut S, Bonnard C, Carre G, Lagha-Boukbiza O, Reschwein C, Albugues E, Demuth S, Landsberger H, Einsiedler M, Parratte T, Nguyen A, Lamy F, Durand H, Fahrer P, Voulleminot P, Bigaut K, Chanson JB, Nicolas G, Chelly J, Cazeneuve C, Koenig M, Bund C, Namer IJ, Kremer S, Calmels N, Tranchant C, Anheim M
J Neurol 2022 Dec;269(12):6354-6365. Epub 2022 Jul 23 doi: 10.1007/s00415-022-11253-1. PMID: 35869996
Swallowing Outcomes Following Voice Therapy in Multiple System Atrophy with Dysphagia: Comparison of Treatment Efficacy with Parkinson's Disease.
Park A, Jang SJ, Kim NE, Kim TH, Sohn YH, Kim H, Cho SR
Dysphagia 2022 Feb;37(1):198-206. Epub 2021 Mar 5 doi: 10.1007/s00455-021-10265-9. PMID: 33666739Free PMC Article
Neuroimaging Applications in Chronic Ataxias.
Mascalchi M, Vella A
Int Rev Neurobiol 2018;143:109-162. Epub 2018 Oct 29 doi: 10.1016/bs.irn.2018.09.011. PMID: 30473193
3-Hz postural tremor in multiple system atrophy cerebellar type (MSA-C)-a static posturography study.
Li X, Wang Y, Wang Z, Xu Y, Zheng W
Neurol Sci 2018 Jan;39(1):71-77. Epub 2017 Oct 12 doi: 10.1007/s10072-017-3130-3. PMID: 29027029
Differences between spinocerebellar ataxias and multiple system atrophy-cerebellar type on proton magnetic resonance spectroscopy.
Lirng JF, Wang PS, Chen HC, Soong BW, Guo WY, Wu HM, Chang CY
PLoS One 2012;7(10):e47925. Epub 2012 Oct 31 doi: 10.1371/journal.pone.0047925. PMID: 23118909Free PMC Article

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