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Autosomal recessive spastic ataxia

MedGen UID:
1826141
•Concept ID:
C5679900
•
Disease or Syndrome
Synonyms: AR-SPAX; autosomal recessive spastic ataxia; spastic ataxia, autosomal recessive
 
Monarch Initiative: MONDO:0017847
Orphanet: ORPHA316240

Definition

Autosomal recessive form of spastic ataxia. [from MONDO]

Professional guidelines

PubMed

Behavioral Management of Respiratory/Phonatory Dysfunction for Dysarthria Associated With Neurodegenerative Disease: A Systematic Review.
Perry SE, Troche M, Huber JE, Curtis J, Kiefer B, Sevitz J, Dennard Q, Borders J, Browy JR, Dakin A, Gonzalez V, Chapman J, Wu T, Katz L, Britton D
Am J Speech Lang Pathol 2024 Mar 7;33(2):1069-1097. Epub 2024 Jan 17 doi: 10.1044/2023_AJSLP-23-00274. PMID: 38232176
Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS.
Vogel AP, Stoll LH, Oettinger A, Rommel N, Kraus EM, Timmann D, Scott D, Atay C, Storey E, Schöls L, Synofzik M
J Neurol 2019 May;266(5):1260-1266. Epub 2019 Mar 6 doi: 10.1007/s00415-019-09258-4. PMID: 30840144
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O
Eur J Neurol 2014 Apr;21(4):552-62. Epub 2014 Jan 13 doi: 10.1111/ene.12341. PMID: 24418350

Recent clinical studies

Etiology

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.
Tremblay M, Girard-Côté L, Brais B, Gagnon C
Orphanet J Rare Dis 2022 Oct 1;17(1):369. doi: 10.1186/s13023-022-02497-1. PMID: 36183078Free PMC Article
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.
Aida I, Ozawa T, Fujinaka H, Goto K, Ohta K, Nakajima T
Intern Med 2021 Dec 15;60(24):3963-3967. Epub 2021 Jun 12 doi: 10.2169/internalmedicine.7401-21. PMID: 34121011Free PMC Article
Recessive ataxias.
Synofzik M, Németh AH
Handb Clin Neurol 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. PMID: 29891078
Current and Promising Therapies in Autosomal Recessive Ataxias.
Picher-Martel V, Dupre N
CNS Neurol Disord Drug Targets 2018;17(3):161-171. doi: 10.2174/1871527317666180419115029. PMID: 29676235
Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Mercier J, Prévost C, Engert JC, Bouchard JP, Mathieu J, Richter A
Genet Test 2001 Fall;5(3):255-9. doi: 10.1089/10906570152742326. PMID: 11788093

Diagnosis

Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Hepschke JL, Rajabally YA, Mollan SP
JAMA Neurol 2023 Jan 1;80(1):104-106. doi: 10.1001/jamaneurol.2022.3961. PMID: 36374509
Case 293: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Karuvath RH, Patwari S, Chadaga H
Radiology 2021 Sep;300(3):730-732. doi: 10.1148/radiol.2021203053. PMID: 34424787
Absent Foveal Avascular Zone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Douglas VP, Douglas KAA, Miller JB, Gaier ED
J Neuroophthalmol 2021 Jun 1;41(2):e166-e168. doi: 10.1097/WNO.0000000000001050. PMID: 32991389Free PMC Article
Recessive ataxias.
Synofzik M, Németh AH
Handb Clin Neurol 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. PMID: 29891078
Spastic ataxias.
Bereznyakova O, Dupré N
Handb Clin Neurol 2018;155:191-203. doi: 10.1016/B978-0-444-64189-2.00012-3. PMID: 29891058

Therapy

Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.
Lessard I, Côté I, St-Gelais R, Hébert LJ, Brais B, Mathieu J, Rodrigue X, Gagnon C
Cerebellum 2024 Apr;23(2):489-501. Epub 2023 Apr 27 doi: 10.1007/s12311-023-01558-w. PMID: 37101017
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Traschütz A, Adarmes-Gómez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hanağası HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, Münchau A, Renaud M, Santorelli FM, Schöls L, Thieme A, Vielhaber S, van de Warrenburg BP, Zanni G, Hilgers RD; PREPARE Consortium, Synofzik M
Ann Neurol 2023 Sep;94(3):470-485. Epub 2023 Jun 12 doi: 10.1002/ana.26712. PMID: 37243847
Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Bourcier D, Bélanger M, Côté I, Brais B, Synofzik M, Brisson JD, Rodrigue X, Gagnon MM, Mathieu J, Gagnon C
J Neurol Sci 2020 Oct 15;417:117050. Epub 2020 Jul 18 doi: 10.1016/j.jns.2020.117050. PMID: 32736199
Current and Promising Therapies in Autosomal Recessive Ataxias.
Picher-Martel V, Dupre N
CNS Neurol Disord Drug Targets 2018;17(3):161-171. doi: 10.2174/1871527317666180419115029. PMID: 29676235
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F
Parkinsonism Relat Disord 2011 Jul;17(6):418-22. Epub 2011 Mar 30 doi: 10.1016/j.parkreldis.2011.03.005. PMID: 21450511

Prognosis

Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.
Lessard I, Côté I, St-Gelais R, Hébert LJ, Brais B, Mathieu J, Rodrigue X, Gagnon C
Cerebellum 2024 Apr;23(2):489-501. Epub 2023 Apr 27 doi: 10.1007/s12311-023-01558-w. PMID: 37101017
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.
Sharma R, Aravindhan A, Puente C, Veerapandiyan A
J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096221139670. doi: 10.1177/23247096221139670. PMID: 36458808Free PMC Article
Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.
Chen J, Zhao Z, Shen H, Bing Q, Li N, Guo X, Hu J
BMC Neurol 2022 May 16;22(1):180. doi: 10.1186/s12883-022-02708-z. PMID: 35578252Free PMC Article
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: upper extremity aptitudes, functional independence and social participation.
Gagnon C, Desrosiers J, Mathieu J
Int J Rehabil Res 2004 Sep;27(3):253-6. doi: 10.1097/00004356-200409000-00013. PMID: 15319698
Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.
De Braekeleer M, Giasson F, Mathieu J, Roy M, Bouchard JP, Morgan K
Genet Epidemiol 1993;10(1):17-25. doi: 10.1002/gepi.1370100103. PMID: 8472930

Clinical prediction guides

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
Bagaria J, Bagyinszky E, An SSA
Int J Mol Sci 2022 Jan 4;23(1) doi: 10.3390/ijms23010552. PMID: 35008978Free 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
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.
de Freitas JL, Rezende Filho FM, Sallum JMF, França MC Jr, Pedroso JL, Barsottini OGP
J Neurol Sci 2020 Feb 15;409:116620. Epub 2019 Dec 6 doi: 10.1016/j.jns.2019.116620. PMID: 31865189
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Parkinson MH, Bartmann AP, Clayton LMS, Nethisinghe S, Pfundt R, Chapple JP, Reilly MM, Manji H, Wood NJ, Bremner F, Giunti P
Brain 2018 Apr 1;141(4):989-999. doi: 10.1093/brain/awy028. PMID: 29538656
Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Mercier J, Prévost C, Engert JC, Bouchard JP, Mathieu J, Richter A
Genet Test 2001 Fall;5(3):255-9. doi: 10.1089/10906570152742326. PMID: 11788093

Recent systematic reviews

Behavioral Management of Respiratory/Phonatory Dysfunction for Dysarthria Associated With Neurodegenerative Disease: A Systematic Review.
Perry SE, Troche M, Huber JE, Curtis J, Kiefer B, Sevitz J, Dennard Q, Borders J, Browy JR, Dakin A, Gonzalez V, Chapman J, Wu T, Katz L, Britton D
Am J Speech Lang Pathol 2024 Mar 7;33(2):1069-1097. Epub 2024 Jan 17 doi: 10.1044/2023_AJSLP-23-00274. PMID: 38232176

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