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Autosomal recessive cerebellar ataxia

MedGen UID:
1843058
•Concept ID:
C5575375
•
Disease or Syndrome
Synonyms: Spinocerebellar ataxia, autosomal recessive; Spinocerebellar Ataxia, Recessive
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:0015244
OMIM® Phenotypic series: PS213200
Orphanet: ORPHA1172

Definition

A heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. [from ORDO]

Professional guidelines

PubMed

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Renaud M, Moreira MC, Ben Monga B, Rodriguez D, Debs R, Charles P, Chaouch M, Ferrat F, Laurencin C, Vercueil L, Mallaret M, M'Zahem A, Pacha LA, Tazir M, Tilikete C, Ollagnon E, Ochsner F, Kuntzer T, Jung HH, Beis JM, Netter JC, Djamshidian A, Bower M, Bottani A, Walsh R, Murphy S, Reiley T, Bieth É, Roelens F, Poll-The BT, Lourenço CM, Jardim LB, Straussberg R, Landrieu P, Roze E, Thobois S, Pouget J, Guissart C, Goizet C, Dürr A, Tranchant C, Koenig M, Anheim M
JAMA Neurol 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373. PMID: 29356829Free PMC Article
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.
Renaud M, Anheim M, Kamsteeg EJ, Mallaret M, Mochel F, Vermeer S, Drouot N, Pouget J, Redin C, Salort-Campana E, Kremer HP, Verschuuren-Bemelmans CC, Muller J, Scheffer H, Durr A, Tranchant C, Koenig M
JAMA Neurol 2014 Oct;71(10):1305-10. doi: 10.1001/jamaneurol.2014.193. PMID: 25089919
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
Neurogenetics 2010 Feb;11(1):1-12. Epub 2009 May 14 doi: 10.1007/s10048-009-0196-y. PMID: 19440741

Recent clinical studies

Etiology

Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.
Jeridi C, Rachdi A, Nabli F, Saied Z, Zouari R, Ben Mohamed D, Ben Said M, Masmoudi S, Ben Sassi S, Amouri R
J Neurogenet 2023 Sep-Dec;37(4):124-130. Epub 2023 Dec 18 doi: 10.1080/01677063.2023.2281916. PMID: 38109176
Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
da Costa SCG, Rezende Filho FM, de Freitas JL, de Assis Pereira Matos PCA, Della-Ripa B, França MC Jr, Marques W Junior, Santos M, Cronemberger IVB, Vale TC, Kok F, Alonso I, Pedroso JL, Barsottini OGP
Mov Disord 2022 Jun;37(6):1309-1316. Epub 2022 Apr 14 doi: 10.1002/mds.29015. PMID: 35426160
Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.
Arias M
Neurologia (Engl Ed) 2019 May;34(4):248-258. Epub 2016 Jul 25 doi: 10.1016/j.nrl.2016.06.006. PMID: 27460185
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
Hammer MB, Ding J, Mochel F, Eleuch-Fayache G, Charles P, Coutelier M, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Majounie E, Clipman S, Bouhlal Y, Nehdi H, Brice A, Hentati F, Stevanin G, Amouri R, Durr A, Singleton AB
Neurodegener Dis 2017;17(4-5):208-212. Epub 2017 May 31 doi: 10.1159/000464445. PMID: 28558379Free PMC Article
SYNE1 mutations in autosomal recessive cerebellar ataxia.
Noreau A, Bourassa CV, Szuto A, Levert A, Dobrzeniecka S, Gauthier J, Forlani S, Durr A, Anheim M, Stevanin G, Brice A, Bouchard JP, Dion PA, Dupré N, Rouleau GA
JAMA Neurol 2013 Oct;70(10):1296-31. doi: 10.1001/jamaneurol.2013.3268. PMID: 23959263

Diagnosis

Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.
Jeridi C, Rachdi A, Nabli F, Saied Z, Zouari R, Ben Mohamed D, Ben Said M, Masmoudi S, Ben Sassi S, Amouri R
J Neurogenet 2023 Sep-Dec;37(4):124-130. Epub 2023 Dec 18 doi: 10.1080/01677063.2023.2281916. PMID: 38109176
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.
Arias M, Mir P, Fernández-Matarrubia M, Arpa J, García-Ramos R, Blanco-Arias P, Quintans B, Sobrido MJ
Neurologia (Engl Ed) 2022 May;37(4):257-262. Epub 2021 Apr 10 doi: 10.1016/j.nrleng.2019.01.014. PMID: 35595401
A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation.
Maalej M, Kammoun F, Kharrat M, Bouchaala W, Ammar M, Mkaouar-Rebai E, Triki C, Fakhfakh F
Acta Neurol Belg 2021 Dec;121(6):1733-1740. Epub 2020 Sep 26 doi: 10.1007/s13760-020-01490-4. PMID: 32979145
Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.
Arias M
Neurologia (Engl Ed) 2019 May;34(4):248-258. Epub 2016 Jul 25 doi: 10.1016/j.nrl.2016.06.006. PMID: 27460185
Rare case of Gordon Holmes syndrome.
Verma R, Mehta M, Shettigar C, Singla S
BMJ Case Rep 2018 Jun 28;2018 doi: 10.1136/bcr-2018-225638. PMID: 29954774Free PMC Article

Therapy

Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia.
Alfedi G, Luffarelli R, Condò I, Pedini G, Mannucci L, Massaro DS, Benini M, Toschi N, Alaimo G, Panarello L, Pacini L, Fortuni S, Serio D, Malisan F, Testi R, Rufini A
Mov Disord 2019 Mar;34(3):323-334. Epub 2019 Jan 9 doi: 10.1002/mds.27604. PMID: 30624801
Rare case of Gordon Holmes syndrome.
Verma R, Mehta M, Shettigar C, Singla S
BMJ Case Rep 2018 Jun 28;2018 doi: 10.1136/bcr-2018-225638. PMID: 29954774Free PMC Article
Exonic deletions of FXN and early-onset Friedreich ataxia.
Anheim M, Mariani LL, Calvas P, Cheuret E, Zagnoli F, Odent S, Seguela C, Marelli C, Fritsch M, Delaunoy JP, Brice A, Dürr A, Koenig M
Arch Neurol 2012 Jul;69(7):912-6. doi: 10.1001/archneurol.2011.834. PMID: 22409940
Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up.
Ribaï P, Pousset F, Tanguy ML, Rivaud-Pechoux S, Le Ber I, Gasparini F, Charles P, Béraud AS, Schmitt M, Koenig M, Mallet A, Brice A, Dürr A
Arch Neurol 2007 Apr;64(4):558-64. doi: 10.1001/archneur.64.4.558. PMID: 17420319
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family.
Mrissa N, Belal S, Hamida CB, Amouri R, Turki I, Mrissa R, Hamida MB, Hentati F
Neurology 2000 Apr 11;54(7):1408-14. doi: 10.1212/wnl.54.7.1408. PMID: 10751248

Prognosis

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.
Cheng HL, Shao YR, Dong Y, Dong HL, Yang L, Ma Y, Shen Y, Wu ZY
Transl Neurodegener 2021 Oct 18;10(1):40. doi: 10.1186/s40035-021-00264-z. PMID: 34663476Free PMC Article
A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.
Algahtani H, Shirah B, Almatrafi S, Al-Qahtani MH, Abdulkareem AA, Naseer MI
Neurol Res 2021 Feb;43(2):141-147. Epub 2020 Oct 4 doi: 10.1080/01616412.2020.1831331. PMID: 33012273
Familial writer's cramp: a clinical clue for inherited coenzyme Q(10) deficiency.
Amprosi M, Zech M, Steiger R, Nachbauer W, Eigentler A, Gizewski ER, Guger M, Indelicato E, Boesch S
Neurogenetics 2021 Mar;22(1):81-86. Epub 2020 Aug 24 doi: 10.1007/s10048-020-00624-3. PMID: 32830305Free PMC Article
Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.
Arias M
Neurologia (Engl Ed) 2019 May;34(4):248-258. Epub 2016 Jul 25 doi: 10.1016/j.nrl.2016.06.006. PMID: 27460185
Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
El Euch-Fayache G, Lalani I, Amouri R, Turki I, Ouahchi K, Hung WY, Belal S, Siddique T, Hentati F
Arch Neurol 2003 Jul;60(7):982-8. doi: 10.1001/archneur.60.7.982. PMID: 12873855

Clinical prediction guides

Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.
Jeridi C, Rachdi A, Nabli F, Saied Z, Zouari R, Ben Mohamed D, Ben Said M, Masmoudi S, Ben Sassi S, Amouri R
J Neurogenet 2023 Sep-Dec;37(4):124-130. Epub 2023 Dec 18 doi: 10.1080/01677063.2023.2281916. PMID: 38109176
Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.
Cheng HL, Shao YR, Dong Y, Dong HL, Yang L, Ma Y, Shen Y, Wu ZY
Transl Neurodegener 2021 Oct 18;10(1):40. doi: 10.1186/s40035-021-00264-z. PMID: 34663476Free PMC Article
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.
Rezende Filho FM, Bremner F, Pedroso JL, de Andrade JBC, Marianelli BF, Lourenço CM, Marques-Júnior W, França MC Jr, Kok F, Sallum JMF, Parkinson MH, Barsottini OG, Giunti P
Mov Disord 2021 Sep;36(9):2027-2035. Epub 2021 Apr 23 doi: 10.1002/mds.28612. PMID: 33893680
Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review.
Uccella S, Pisciotta L, Severino M, Bertini E, Giacomini T, Zanni G, Prato G, De Grandis E, Nobili L, Mancardi MM
Epileptic Disord 2021 Feb 1;23(1):153-160. doi: 10.1684/epd.2021.1243. PMID: 33622667
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.
Renaud M, Anheim M, Kamsteeg EJ, Mallaret M, Mochel F, Vermeer S, Drouot N, Pouget J, Redin C, Salort-Campana E, Kremer HP, Verschuuren-Bemelmans CC, Muller J, Scheffer H, Durr A, Tranchant C, Koenig M
JAMA Neurol 2014 Oct;71(10):1305-10. doi: 10.1001/jamaneurol.2014.193. PMID: 25089919

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