Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
2000 1
2004 1
2005 1
2006 1
2011 2
2012 1
2016 1
2018 2
2020 2
2023 2
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year

Filters applied: . Clear all
Page 1
Organophosphate-induced delayed polyneuropathy.
Lotti M, Moretto A. Lotti M, et al. Toxicol Rev. 2005;24(1):37-49. doi: 10.2165/00139709-200524010-00003. Toxicol Rev. 2005. PMID: 16042503 Review.
In time, there might be significant recovery of the peripheral nerve function but, depending on the degree of pyramidal involvement, spastic ataxia may be a permanent outcome of severe OPIDP. Human and experimental data indicate that recovery is usually complete in …
In time, there might be significant recovery of the peripheral nerve function but, depending on the degree of pyramidal involvement, spas …
Current and Promising Therapies in Autosomal Recessive Ataxias.
Picher-Martel V, Dupre N. Picher-Martel V, et al. CNS Neurol Disord Drug Targets. 2018;17(3):161-171. doi: 10.2174/1871527317666180419115029. CNS Neurol Disord Drug Targets. 2018. PMID: 29676235 Review.
CONCLUSION: The aim of this review is to provide a comprehensive clinical profile and to review the currently available therapies. We overview the physiopathology, neurological features and diagnostic approach of the common recessive ataxias. The emphasis is also made on p …
CONCLUSION: The aim of this review is to provide a comprehensive clinical profile and to review the currently available therapies. We …
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. Traschütz A, et al. Ann Neurol. 2023 Sep;94(3):470-485. doi: 10.1002/ana.26712. Epub 2023 Jun 12. Ann Neurol. 2023. PMID: 37243847
SARA captured mild-to-moderate progression in many genotypes (eg, SYNE1-ataxia: 0.55 points/yr, ataxia with oculomotor apraxia type 2: 1.14 points/yr, POLG-ataxia: 1.56 points/yr), but no change in others (autosomal recessive spastic ataxia of Charlevoix-Saguenay, C …
SARA captured mild-to-moderate progression in many genotypes (eg, SYNE1-ataxia: 0.55 points/yr, ataxia with oculomotor apraxia type 2: 1.14 …
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F. Bouhlal Y, et al. Parkinsonism Relat Disord. 2011 Jul;17(6):418-22. doi: 10.1016/j.parkreldis.2011.03.005. Epub 2011 Mar 30. Parkinsonism Relat Disord. 2011. PMID: 21450511 Review.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia related to progressive degeneration of the cerebellum and spinal cord. ...It was also shown that the disease occurred worldwi …
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic …
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. Bourcier D, et al. J Neurol Sci. 2020 Oct 15;417:117050. doi: 10.1016/j.jns.2020.117050. Epub 2020 Jul 18. J Neurol Sci. 2020. PMID: 32736199
BACKGROUND: The Scale for the Assessment and Rating of Ataxia (SARA) is a commonly used scale measuring the severity of cerebellar ataxia and is a candidate for outcome measurement in foreseeable clinical trials in Autosomal Recessive Spastic Ataxia of Charle …
BACKGROUND: The Scale for the Assessment and Rating of Ataxia (SARA) is a commonly used scale measuring the severity of cerebellar ataxia an …
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J. Gagnon C, et al. Orphanet J Rare Dis. 2018 Sep 19;13(1):165. doi: 10.1186/s13023-018-0898-z. Orphanet J Rare Dis. 2018. PMID: 30231904 Free PMC article.
BACKGROUND: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a recessive neurological disorder with cerebellar, pyramidal and neuropathic features. Natural history data are urgently needed to increase trial readiness. This study aimed to …
BACKGROUND: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a recessive neurological disorder with cereb …
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. Lessard I, et al. Cerebellum. 2024 Apr;23(2):489-501. doi: 10.1007/s12311-023-01558-w. Epub 2023 Apr 27. Cerebellum. 2024. PMID: 37101017
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurologic disorder with generally well-known clinical manifestations. ...These results provide fundamental insights regarding the disease prognosis that will help to better inform patien …
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurologic disorder with generally well-known clini …
Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India.
Katragadda P, Holla VV, Kamble N, Saini J, Yadav R, Pal PK. Katragadda P, et al. Tremor Other Hyperkinet Mov (N Y). 2024 Mar 6;14:10. doi: 10.5334/tohm.851. eCollection 2024. Tremor Other Hyperkinet Mov (N Y). 2024. PMID: 38476584 Free PMC article.
The available clinical details, and investigations, including imaging, electrophysiological, pathological and genetic data, were documented. ...DISCUSSION: CTX is a rare treatable disorder. Apart from the usual neurological presentation with spastic-ataxia, i …
The available clinical details, and investigations, including imaging, electrophysiological, pathological and genetic data, were docu …
Genetic structure of the Saguenay, 1852-1911: evidence from migration and isonymy matrices.
Gradie MI, Jorde LB, Bouchard G. Gradie MI, et al. Am J Phys Anthropol. 1988 Nov;77(3):321-33. doi: 10.1002/ajpa.1330770305. Am J Phys Anthropol. 1988. PMID: 3067584
This population has been of interest to geneticists because of the high incidence of certain hereditary diseases, notably spastic ataxia, tyrosinemia, agenesis of the corpus callosum, vitamin D-dependent rickets, and myotonic dystrophy. Parent-offspring migration an …
This population has been of interest to geneticists because of the high incidence of certain hereditary diseases, notably spastic …
Standardized finger-nose test validity for coordination assessment in an ataxic disorder.
Gagnon C, Mathieu J, Desrosiers J. Gagnon C, et al. Can J Neurol Sci. 2004 Nov;31(4):484-9. doi: 10.1017/s031716710000367x. Can J Neurol Sci. 2004. PMID: 15595252 Clinical Trial.
METHOD: A cross-sectional study was carried out with 24 participants with recessive spastic ataxia of Charlevoix-Saguenay. Convergent construct validity was tested by correlating the SFNT with other upper extremity function tests, a functional independence measure a …
METHOD: A cross-sectional study was carried out with 24 participants with recessive spastic ataxia of Charlevoix-Saguenay. Con …
16 results