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Quoted phrase not found in phrase index: "Spastic ataxia 2"
Page 1
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N. Chelban V, et al. Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17. Eur J Neurol. 2020. PMID: 31509304 Free PMC article.
BACKGROUND AND PURPOSE: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi-allelic mutations in NKX6-2 were recently linked to spastic ataxia 8 with hyp …
BACKGROUND AND PURPOSE: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes a …
Identification of SKOR2 IgG as a novel biomarker of paraneoplastic neurologic syndrome.
Rezk M, Pittock SJ, Kapadia RK, Knight AM, Guo Y, Gupta P, LaFrance-Corey RG, Zekeridou A, McKeon A, Dasari S, Mills JR, Dubey D. Rezk M, et al. Front Immunol. 2023 Sep 18;14:1243946. doi: 10.3389/fimmu.2023.1243946. eCollection 2023. Front Immunol. 2023. PMID: 37795104 Free PMC article.
Both SKOR2 IgG-positive patients had central nervous system involvement, one presenting with encephalitis and seizures (Patient 1) and the other with cognitive dysfunction, spastic ataxia, dysarthria, dysphagia, and pseudobulbar affect (Patient 2). They had a refrac …
Both SKOR2 IgG-positive patients had central nervous system involvement, one presenting with encephalitis and seizures (Patient 1) and the o …
Leukodystrophy Due to eIF2B Mutations in Adults.
Shivaram S, Nagappa M, Seshagiri DV, Saini J, Govindaraj P, Sinha S, Bindu PS, Taly AB. Shivaram S, et al. Can J Neurol Sci. 2022 Sep;49(5):708-712. doi: 10.1017/cjn.2021.202. Epub 2021 Sep 2. Can J Neurol Sci. 2022. PMID: 34663487
Vanishing white matter disease (VWMD) due to eIF2B mutations is a common leukodystrophy characterised by childhood onset, autosomal recessive inheritance, and progressive clinical course with episodic worsening. There are no reports of genetically confirmed adult patients …
Vanishing white matter disease (VWMD) due to eIF2B mutations is a common leukodystrophy characterised by childhood onset, autosomal recessiv …
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. Chen J, et al. BMC Neurol. 2022 May 16;22(1):180. doi: 10.1186/s12883-022-02708-z. BMC Neurol. 2022. PMID: 35578252 Free PMC article.
RESULTS: A total of five types of hereditary neurological disorders were identified in 28 patients, including HSP (15/28), leukodystrophy (5/28), hereditary ataxia (2/28), methylmalonic acidemia/methylenetetrahydrofolate reductase deficiency (5/28), and Charcot-Marie-tooth atroph …
RESULTS: A total of five types of hereditary neurological disorders were identified in 28 patients, including HSP (15/28), leukodystrophy (5 …
An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up.
Gagnon C, Lessard I, Lavoie C, Côté I, St-Gelais R, Mathieu J, Brais B. Gagnon C, et al. Neurology. 2018 Oct 2;91(14):e1307-e1311. doi: 10.1212/WNL.0000000000006290. Epub 2018 Aug 29. Neurology. 2018. PMID: 30158165 Free PMC article.
OBJECTIVE: To document the decline of upper and lower limb functions, mobility, and independence in daily living activities in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) over a 2-year period. ...
OBJECTIVE: To document the decline of upper and lower limb functions, mobility, and independence in daily living activities in adults with a …
Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay.
Lessard I, St-Gelais R, Hébert LJ, Côté I, Mathieu J, Brais B, Gagnon C. Lessard I, et al. Orphanet J Rare Dis. 2021 Oct 14;16(1):432. doi: 10.1186/s13023-021-02054-2. Orphanet J Rare Dis. 2021. PMID: 34649570 Free PMC article.
BACKGROUND: This study aimed to describe lower limbs impairments, balance and activity limitations related to indoor mobility in adult walkers with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). RESULTS: Twenty-five participants were recruited w …
BACKGROUND: This study aimed to describe lower limbs impairments, balance and activity limitations related to indoor mobility in adult walke …
Electroencephalographic findings in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Bouchard RW, Bouchard JP, Bouchard R, Barbeau A. Bouchard RW, et al. Can J Neurol Sci. 1979 May;6(2):191-4. doi: 10.1017/s0317167100119626. Can J Neurol Sci. 1979. PMID: 487309
Electroencephalographic studies have been done in two groups of hereditary ataxia: a group bearing the classical features of Friedreich's ataxia and a group clinically different described as autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The qua …
Electroencephalographic studies have been done in two groups of hereditary ataxia: a group bearing the classical features of Friedreich's at …
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.
Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A. Mancini C, et al. Eur J Neurol. 2019 Jan;26(1):80-86. doi: 10.1111/ene.13768. Epub 2018 Sep 3. Eur J Neurol. 2019. PMID: 30098094 Free article.
Mutated patients showed a pure cerebellar ataxia at onset, evolving in mild spastic ataxia (alternatively) associated with dysarthria (~80% of patients), urinary urgency (~30%) and pyramidal signs (~70%). ...CONCLUSIONS: The SPG7 c.1529C>T (p.Ala510Val) mutants a …
Mutated patients showed a pure cerebellar ataxia at onset, evolving in mild spastic ataxia (alternatively) associated with dys …
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. van de Warrenburg BP, et al. Eur J Neurol. 2014 Apr;21(4):552-62. doi: 10.1111/ene.12341. Epub 2014 Jan 13. Eur J Neurol. 2014. PMID: 24418350
DIAGNOSIS: If acquired causes are ruled out, and if the disease course is rather slowly progressive, a (heredo)degenerative disease is likely. ...In the case of recessive disease, a stepwise diagnostic work-up is recommended, including both biochemical markers and targeted …
DIAGNOSIS: If acquired causes are ruled out, and if the disease course is rather slowly progressive, a (heredo)degenerative disease i …
Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations.
Ménade M, Kozlov G, Trempe JF, Pande H, Shenker S, Wickremasinghe S, Li X, Hojjat H, Dicaire MJ, Brais B, McPherson PS, Wong MJH, Young JC, Gehring K. Ménade M, et al. J Biol Chem. 2018 Aug 17;293(33):12832-12842. doi: 10.1074/jbc.RA118.003939. Epub 2018 Jun 26. J Biol Chem. 2018. PMID: 29945973 Free PMC article.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease that is caused by mutations in the SACS gene. The product of this gene is a very large 520-kDa cytoplasmic protein, sacsin, with a ubiquitin-like (Ubl) domain at the N …
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease that is caused by mutations …
20 results