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Chronic and progressive ataxia

MedGen UID:
830677
•Concept ID:
CN225416
•
Disease or Syndrome

Professional guidelines

PubMed

ACR Appropriateness Criteria® Ataxia-Child.
Expert Panel on Pediatric Imaging, Radhakrishnan R, Shea LAG, Pruthi S, Silvera VM, Bosemani T, Desai NK, Gilbert DL, Glenn OA, Guimaraes CV, Ho ML, Lam HFS, Maheshwari M, Mirsky DM, Nadel HR, Partap S, Schooler GR, Udayasankar UK, Whitehead MT, Wright JN, Rigsby CK
J Am Coll Radiol 2022 Nov;19(11S):S240-S255. doi: 10.1016/j.jacr.2022.09.010. PMID: 36436955

Recent clinical studies

Etiology

Essential tremor.
Louis ED
Handb Clin Neurol 2023;196:389-401. doi: 10.1016/B978-0-323-98817-9.00012-0. PMID: 37620080
Movement Disorders in Multiple Sclerosis: An Update.
Ghosh R, Roy D, Dubey S, Das S, Benito-León J
Tremor Other Hyperkinet Mov (N Y) 2022;12:14. Epub 2022 May 4 doi: 10.5334/tohm.671. PMID: 35601204Free PMC Article
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Cerebellar Dizziness and Vertigo: Etiologies, Diagnostic Assessment, and Treatment.
Zwergal A, Feil K, Schniepp R, Strupp M
Semin Neurol 2020 Feb;40(1):87-96. Epub 2019 Dec 30 doi: 10.1055/s-0039-3400315. PMID: 31887755
Acute cerebellar ataxia: differential diagnosis and clinical approach.
Pedroso JL, Vale TC, Braga-Neto P, Dutra LA, França MC Jr, Teive HAG, Barsottini OGP
Arq Neuropsiquiatr 2019 Mar;77(3):184-193. doi: 10.1590/0004-282X20190020. PMID: 30970132

Diagnosis

Essential tremor.
Louis ED
Handb Clin Neurol 2023;196:389-401. doi: 10.1016/B978-0-323-98817-9.00012-0. PMID: 37620080
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects.
Cortese A, Curro' R, Vegezzi E, Yau WY, Houlden H, Reilly MM
Pract Neurol 2022 Feb;22(1):14-18. Epub 2021 Aug 13 doi: 10.1136/practneurol-2020-002822. PMID: 34389644
Cerebellar Dizziness and Vertigo: Etiologies, Diagnostic Assessment, and Treatment.
Zwergal A, Feil K, Schniepp R, Strupp M
Semin Neurol 2020 Feb;40(1):87-96. Epub 2019 Dec 30 doi: 10.1055/s-0039-3400315. PMID: 31887755
Acute cerebellar ataxia: differential diagnosis and clinical approach.
Pedroso JL, Vale TC, Braga-Neto P, Dutra LA, França MC Jr, Teive HAG, Barsottini OGP
Arq Neuropsiquiatr 2019 Mar;77(3):184-193. doi: 10.1590/0004-282X20190020. PMID: 30970132
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Therapy

N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study.
Fields T, M Bremova T, Billington I, Churchill GC, Evans W, Fields C, Galione A, Kay R, Mathieson T, Martakis K, Patterson M, Platt F, Factor M, Strupp M
Trials 2023 May 29;24(1):361. doi: 10.1186/s13063-023-07399-6. PMID: 37248494Free PMC Article
Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial.
Schiffmann R, Cox TM, Dedieu JF, Gaemers SJM, Hennermann JB, Ida H, Mengel E, Minini P, Mistry P, Musholt PB, Scott D, Sharma J, Peterschmitt MJ
Brain 2023 Feb 13;146(2):461-474. doi: 10.1093/brain/awac379. PMID: 36256599Free PMC Article
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Opsoclonus-myoclonus syndrome.
Pike M
Handb Clin Neurol 2013;112:1209-11. doi: 10.1016/B978-0-444-52910-7.00042-8. PMID: 23622330
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Prognosis

Global burden of 288 causes of death and life expectancy decomposition in 204 countries and territories and 811 subnational locations, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021.
GBD 2021 Causes of Death Collaborators
Lancet 2024 May 18;403(10440):2100-2132. Epub 2024 Apr 3 doi: 10.1016/S0140-6736(24)00367-2. PMID: 38582094Free PMC Article
Ataxia in children: early recognition and clinical evaluation.
Pavone P, Praticò AD, Pavone V, Lubrano R, Falsaperla R, Rizzo R, Ruggieri M
Ital J Pediatr 2017 Jan 13;43(1):6. doi: 10.1186/s13052-016-0325-9. PMID: 28257643Free PMC Article
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Opsoclonus-myoclonus syndrome.
Pike M
Handb Clin Neurol 2013;112:1209-11. doi: 10.1016/B978-0-444-52910-7.00042-8. PMID: 23622330
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Clinical prediction guides

Global burden of 288 causes of death and life expectancy decomposition in 204 countries and territories and 811 subnational locations, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021.
GBD 2021 Causes of Death Collaborators
Lancet 2024 May 18;403(10440):2100-2132. Epub 2024 Apr 3 doi: 10.1016/S0140-6736(24)00367-2. PMID: 38582094Free PMC Article
Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS).
Dupré M, Hermann R, Froment Tilikete C
Cerebellum 2021 Oct;20(5):687-700. Epub 2020 Oct 4 doi: 10.1007/s12311-020-01192-w. PMID: 33011895Free PMC Article
Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATM mutations in chronic lymphocytic leukemia.
Nadeu F, Delgado J, Royo C, Baumann T, Stankovic T, Pinyol M, Jares P, Navarro A, Martín-García D, Beà S, Salaverria I, Oldreive C, Aymerich M, Suárez-Cisneros H, Rozman M, Villamor N, Colomer D, López-Guillermo A, González M, Alcoceba M, Terol MJ, Colado E, Puente XS, López-Otín C, Enjuanes A, Campo E
Blood 2016 Apr 28;127(17):2122-30. Epub 2016 Feb 2 doi: 10.1182/blood-2015-07-659144. PMID: 26837699Free PMC Article
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Recent systematic reviews

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.
Badura-Stronka M, Hirschfeld AS, Winczewska-Wiktor A, Budzyńska E, Jakubiuk-Tomaszuk A, Piontek A, Steinborn B, Kozubski W
Clin Genet 2022 Feb;101(2):190-207. Epub 2021 Nov 24 doi: 10.1111/cge.14079. PMID: 34689324
Primary Sjögren's syndrome (pSS)-related cerebellar ataxia: a systematic review and meta-analysis.
Liampas A, Nteveros A, Parperis K, Akil M, Dardiotis E, Andreadou E, Hadjivassiliou M, Zis P
Acta Neurol Belg 2022 Apr;122(2):457-463. Epub 2021 Oct 5 doi: 10.1007/s13760-021-01784-1. PMID: 34611842
Drug therapy for chronic idiopathic axonal polyneuropathy.
Warendorf J, Vrancken AF, van Schaik IN, Hughes RA, Notermans NC
Cochrane Database Syst Rev 2017 Jun 20;6(6):CD003456. doi: 10.1002/14651858.CD003456.pub3. PMID: 28631805Free PMC Article
Drug therapy for chronic idiopathic axonal polyneuropathy.
Vrancken AF, van Schaik IN, Hughes RA, Notermans NC
Cochrane Database Syst Rev 2004;(2):CD003456. doi: 10.1002/14651858.CD003456.pub2. PMID: 15106203

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