Sporadic adult-onset ataxia of unknown etiology

MedGen UID:: 1383968
•Concept ID:: C4518339
•: Sign or Symptom

Synonyms:	Idiopathic late-onset cerebellar ataxia; idiopathic late-onset cerebellar ataxia; SAOA; sporadic adult-onset ataxia of unknown etiology; Sporadic adult-onset ataxia of unknown origin
SNOMED CT:	Sporadic adult-onset ataxia of unknown etiology (734023003); Idiopathic late-onset cerebellar ataxia (734023003); Sporadic adult-onset ataxia of unknown origin (734023003)
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:0016591
Orphanet:	ORPHA247234

Definition

Non-hereditary degenerative ataxia with characteristics of slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSporadic adult-onset ataxia of unknown etiology

Non-hereditary degenerative ataxia
- Sporadic adult-onset ataxia of unknown etiology

Professional guidelines

PubMed

Sporadic ataxia with adult onset: classification and diagnostic criteria.

Klockgether T
Lancet Neurol 2010 Jan;9(1):94-104. doi: 10.1016/S1474-4422(09)70305-9. PMID: 20083040

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Recent clinical studies

Etiology

Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.

Oender D, Faber J, Wilke C, Schaprian T, Lakghomi A, Mengel D, Schöls L, Traschütz A, Fleszar Z, Dufke C, Vielhaber S, Machts J, Giordano I, Grobe-Einsler M, Klopstock T, Stendel C, Boesch S, Nachbauer W, Timmann-Braun D, Thieme AG, Kamm C, Dudesek A, Tallaksen C, Wedding I, Filla A, Schmid M, Synofzik M, Klockgether T
Mov Disord 2023 Apr;38(4):654-664. Epub 2023 Jan 25 doi: 10.1002/mds.29324. PMID: 36695111

The Working Life of People with Degenerative Cerebellar Ataxia.

Ranavolo A, Serrao M, Varrecchia T, Casali C, Filla A, Roca A, Silvetti A, Marcotulli C, Rondinone BM, Iavicoli S, Draicchio F
Cerebellum 2019 Oct;18(5):910-921. doi: 10.1007/s12311-019-01065-x. PMID: 31468336

Characterization of Cerebellar Atrophy and Resting State Functional Connectivity Patterns in Sporadic Adult-Onset Ataxia of Unknown Etiology (SAOA).

Jiang X, Faber J, Giordano I, Machts J, Kindler C, Dudesek A, Speck O, Kamm C, Düzel E, Jessen F, Spottke A, Vielhaber S, Boecker H, Klockgether T, Scheef L
Cerebellum 2019 Oct;18(5):873-881. doi: 10.1007/s12311-019-01072-y. PMID: 31422550

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

Sporadic adult-onset ataxia of unknown etiology.

Klockgether T
Handb Clin Neurol 2012;103:253-62. doi: 10.1016/B978-0-444-51892-7.00015-2. PMID: 21827893

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Diagnosis

Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.

A novel clinicopathologic entity causing rapidly progressive cerebellar ataxia?

Koga S, Ali S, Baker MC, Wierenga KJ, Dompenciel M, Dickson DW, Wszolek ZK
Parkinsonism Relat Disord 2022 Dec;105:149-153. Epub 2022 Nov 11 doi: 10.1016/j.parkreldis.2022.11.008. PMID: 36396537

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

Sporadic adult-onset ataxia of unknown etiology.

Klockgether T
Handb Clin Neurol 2012;103:253-62. doi: 10.1016/B978-0-444-51892-7.00015-2. PMID: 21827893

Sporadic adult onset ataxia of unknown etiology : a clinical, electrophysiological and imaging study.

Abele M, Minnerop M, Urbach H, Specht K, Klockgether T
J Neurol 2007 Oct;254(10):1384-9. Epub 2007 Oct 15 doi: 10.1007/s00415-007-0556-1. PMID: 17934884

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Therapy

Characterization of Cerebellar Atrophy and Resting State Functional Connectivity Patterns in Sporadic Adult-Onset Ataxia of Unknown Etiology (SAOA).

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

See all (2)

Prognosis

Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.

A novel clinicopathologic entity causing rapidly progressive cerebellar ataxia?

Koga S, Ali S, Baker MC, Wierenga KJ, Dompenciel M, Dickson DW, Wszolek ZK
Parkinsonism Relat Disord 2022 Dec;105:149-153. Epub 2022 Nov 11 doi: 10.1016/j.parkreldis.2022.11.008. PMID: 36396537

Characterization of Cerebellar Atrophy and Resting State Functional Connectivity Patterns in Sporadic Adult-Onset Ataxia of Unknown Etiology (SAOA).

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

Multiple system atrophy of the cerebellar type: clinical state of the art.

Lin DJ, Hermann KL, Schmahmann JD
Mov Disord 2014 Mar;29(3):294-304. Epub 2014 Feb 24 doi: 10.1002/mds.25847. PMID: 24615754

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