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Recessive mitochondrial ataxia syndrome

MedGen UID:
1683676
•Concept ID:
C4760799
•
Disease or Syndrome
Synonyms: MIRAS; Mitochondrial Recessive Ataxia Syndrome
SNOMED CT: Recessive mitochondrial ataxia syndrome (782696001); MIRAS - mitochondrial recessive ataxia syndrome (782696001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019791
Orphanet: ORPHA94125

Definition

A rare mitochondrial DNA maintenance syndrome with characteristics of early-onset cerebellar ataxia and a variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Recessive mitochondrial ataxia syndrome

Professional guidelines

PubMed

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.
De Castro M, García-Planells J, Monrós E, Cañizares J, Vázquez-Manrique R, Vílchez JJ, Urtasun M, Lucas M, Navarro G, Izquierdo G, Moltó MD, Palau F
Hum Genet 2000 Jan;106(1):86-92. doi: 10.1007/s004399900201. PMID: 10982187

Recent clinical studies

Etiology

The hereditary spastic paraplegias.
Fink JK
Handb Clin Neurol 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. PMID: 37620092
Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
Myoclonus epilepsy in mitochondrial disorders.
Lamperti C, Zeviani M
Epileptic Disord 2016 Sep 1;18(S2):94-102. doi: 10.1684/epd.2016.0846. PMID: 27618766
Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.
Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch R; Coenzyme Q₁₀ Deficiency Study Group
Mitochondrion 2013 Jul;13(4):337-41. Epub 2013 Apr 11 doi: 10.1016/j.mito.2013.04.001. PMID: 23583954
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article

Diagnosis

An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.
Rudaks LI, Yeow D, Ng K, Deveson IW, Kennerson ML, Kumar KR
Cerebellum 2024 Oct;23(5):2152-2168. Epub 2024 May 18 doi: 10.1007/s12311-024-01703-z. PMID: 38760634Free PMC Article
The hereditary spastic paraplegias.
Fink JK
Handb Clin Neurol 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. PMID: 37620092
Distinctive diffusion-weighted imaging features in late-onset genetic leukoencephalopathies.
De Cocker LJL, Castillo M
Neuroradiology 2021 Jan;63(1):153-156. Epub 2020 Sep 3 doi: 10.1007/s00234-020-02543-4. PMID: 32879996
POLG-related disorders and their neurological manifestations.
Rahman S, Copeland WC
Nat Rev Neurol 2019 Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0. PMID: 30451971Free PMC Article
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article

Therapy

Ataxia-telangiectasia clinical trial landscape and the obstacles to overcome.
Kuhn K, Lederman HM, McGrath-Morrow SA
Expert Opin Investig Drugs 2023 Jul-Dec;32(8):693-704. Epub 2023 Aug 28 doi: 10.1080/13543784.2023.2249399. PMID: 37622329Free PMC Article
Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.
Piekutowska-Abramczuk D, Kaliszewska M, Sułek A, Jurkowska N, Ołtarzewski M, Jabłońska E, Trubicka J, Głowacka A, Ciara E, Kowalski P, Langiewicz-Wojciechowska K, Tesarova M, Zeman J, Kierdaszuk B, Kuczyński D, Chmielewski D, Szymańska E, Bakuła A, Łusakowska A, Lipowska M, Brodacki B, Pera J, Dorobek M, Rydzanicz M, Płoski R, Chrzanowska KH, Bartnik E, Placha G, Kamińska A, Kostera-Pruszczyk A, Krajewska-Walasek M, Tońska K, Pronicka E
Mitochondrion 2019 Jul;47:179-187. Epub 2018 Nov 10 doi: 10.1016/j.mito.2018.11.004. PMID: 30423451
Recessive twinkle mutations cause severe epileptic encephalopathy.
Lönnqvist T, Paetau A, Valanne L, Pihko H
Brain 2009 Jun;132(Pt 6):1553-62. Epub 2009 Mar 20 doi: 10.1093/brain/awp045. PMID: 19304794

Prognosis

Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
Charcot-Marie-Tooth disease and related disorders: an evolving landscape.
Laurá M, Pipis M, Rossor AM, Reilly MM
Curr Opin Neurol 2019 Oct;32(5):641-650. doi: 10.1097/WCO.0000000000000735. PMID: 31343428
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article
Mitochondrial disease and epilepsy.
Rahman S
Dev Med Child Neurol 2012 May;54(5):397-406. Epub 2012 Jan 28 doi: 10.1111/j.1469-8749.2011.04214.x. PMID: 22283595
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article

Clinical prediction guides

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Nasca A, Rizza T, Doimo M, Legati A, Ciolfi A, Diodato D, Calderan C, Carrara G, Lamantea E, Aiello C, Di Nottia M, Niceta M, Lamperti C, Ardissone A, Bianchi-Marzoli S, Iarossi G, Bertini E, Moroni I, Tartaglia M, Salviati L, Carrozzo R, Ghezzi D
Orphanet J Rare Dis 2017 May 12;12(1):89. doi: 10.1186/s13023-017-0641-1. PMID: 28494813Free PMC Article
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article
Hematological manifestations of primary mitochondrial disorders.
Finsterer J
Acta Haematol 2007;118(2):88-98. Epub 2007 Jul 18 doi: 10.1159/000105676. PMID: 17637511
Hereditary causes of disturbed iron homeostasis in the central nervous system.
Ponka P
Ann N Y Acad Sci 2004 Mar;1012:267-81. doi: 10.1196/annals.1306.022. PMID: 15105272
Mitochondrial DNA alterations and genetic diseases: a review.
Lestienne P, Bataillé N
Biomed Pharmacother 1994;48(5-6):199-214. doi: 10.1016/0753-3322(94)90134-1. PMID: 7999980

Recent systematic reviews

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article

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