Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay

[en] Background and purpose: Autosomal recessive spastic ataxia of Charlevoix-Saguenay ARSACS) diagnosis is based on the presence of three main clinical features: 1) ataxia, 2) pyramidal involvement, and 3) axonal neuropathy. This study aimed to explore, among a cohort of adults with ARSACS, the prevalence of other signs and symptoms than those commonly describe in this disease and compare their prevalence between younger (< 40 years) and older (≥40 years) participants. Methods: A clinical interview based on a standardized questionnaire was conducted. It included the following items: memory and concentration problems, hearing impairment, epilepsy, spasms, horeathetosis, neuropathic pain, cramps and fecal incontinence. Results: A total of 43 participants were interviewed, with a mean age of 38.9 years and 51.2% were men. Spasms (55.8%), cramps (53.5%), and concentration problems (39.5%) were the most frequent manifestations. Except for choreathetosis, which was present in only one participant, all other signs and symptoms were present in 9.3% to 29.3% of participants. Conclusions: People with ARSACS may experience many other clinical manifestations than the most commonly described. This study is a preliminary step toward the development of a comprehensive evidence-based clinical care guideline for this population.

Research center :

Groupe de recherche interdisciplinaire sur les maladies neuromusculaires

Disciplines :

Neurology

Author, co-author :

Briand, Marie-Michèle ; Université Laval > Physiatrie > 2013-2018

Rodrigue, Xavier; Institut de Réadaptation en Déficience Physique de Québec > Physiatrie

Lessard, Isabelle; Université de Sherbrooke > Centre de recherche Charles-Le-Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé > Faculté de médecine et des sciences de la santé

Mathieu, Jean; Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean > Groupe de recherche interdisciplinaire sur les maladies neuromusculaires,

Brais, Bernard; McGill University - McGill > Institut neurologique de Montréal

Côté, Isabelle; Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean > Groupe de recherche interdisciplinaire sur les maladies neuromusculaires,

Gagnon, Cynthia; Université de Sherbrooke > Centre de recherche Charles-Le-Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé > Faculté de médecine et des sciences de la santé

Language :

English

Title :

Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Alternative titles :

[fr] Ajout de caractéristiques cliniques afin de mieux décrire l'ataxie spastique autosomale récessive de Charlevoix-Saguenay (ARSACS)

Publication date :

2019

Journal title :

Journal of the Neurological Sciences

ISSN :

0022-510X

Publisher :

Elsevier, Netherlands

Volume :

400

Pages :

39-41

Peer reviewed :

Peer Reviewed verified by ORBi

Additional URL :

https://doi.org/10.1016/j.jns.2019.03.008

Funders :

IRSC - Instituts de Recherche en Santé du Canada [CA]
Fondation de l'Ataxie Charlevoix-Saguenay
FRQS - Fonds de Recherche du Québec - Santé [CA]

Available on ORBi :

since 21 May 2019

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Bibliography

Bouchard, J.P., Barbeau, A., Bouchard, R., Bouchard, R.W., Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can. J. Neurol. Sci. 5 (1978), 61–69.
Pilliod, J., Moutton, S., Lavie, J., et al. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Ann. Neurol. 78 (2015), 871–886.
Bouhlal, Y., Amouri, R., El Euch-Fayeche, G., Hentati, F., Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. Parkinsonism Relat. Disord. 17 (2011), 418–422.
Terracciano, A., Casali, C., Grieco, G.S., et al. An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss. Neurogenetics 10 (2009), 151–155.
Engert, J.C., Berube, P., Mercier, J., et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat. Genet. 24 (2000), 120–125.
Ali, Z., Klar, J., Jameel, M., et al. Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities. J. Neurol. Sci. 371 (2016), 105–111.
Pedroso, J.L., Braga-Neto, P., Abrahao, A., et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family. Arq. Neuropsiquiatr. 69 (2011), 288–291.
Lessard, I., Brais, B., Côté I., et al. Assessing mobility in autosomal recessive spastic Ataxia of Charlevoix-Saguenay population: validity and reliability of four outcome measures. J. Neurol. Sci. 390 (2018), 4–9.
Gagnon, C., Lessard, I., Lavoie, C., et al. Validity and reliability of outcome measures assessing dexterity, coordination, and upper limbs strength in autosomal recessive spastic Ataxia of Charlevoix-Saguenay. Arch. Phys. Med. Rehabil. 99 (2018), 1747–1754.
Mahoney, F.I., Barthel, D.W., Functional evaluation: the Barthel index. Md. State Med. J. 14 (1965), 61–65.
Schmitz-Hubsch, T., du Montcel, S.T., Baliko, L., et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 66 (2006), 1717–1720.
Bouchard, J.P., Recessive spastic ataxia of Charlevoix-Saguenay. Vinken, P., Bruyn, G., HL, K., de Jong, J., (eds.) Handbook of Clinical Neurology Hereditary Neuropathies and Spinocerebellar Atrophies, 16 (60), 1991, North-Holland Pub. Co., Amsterdam, 451–459.
Gagnon, C., Brais, B., Lessard, I., et al. From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Orphanet J. Rare Dis., 13, 2018, 165.
Duquette, A., Brais, B., Bouchard, J.-P., Mathieu, J., Clinical presentation and early evolution of spastic Ataxia of Charlevoix-Saguenay. Mov. Disord. 28 (2013), 2011–2014.
Boucher, A., Étude exploratoire des fonctions cognitives chez les individus âgés de 41 à 60 ans atteints d'ataxie récessive spastique de charlevoix-saguenay (ARSCS). (Thesis), 2017, Université du Québec à Chicoutimi, Chicoutimi.
Krygier, M., Konkel, A., Schinwelski, M., et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - a polish family with novel SACS mutations. Neurol. Neurochir. Pol. 51 (2017), 481–485.
Mignarri, A., Tessa, A., Carluccio, M.A., et al. Cerebellum and neuropsychiatric disorders: insights from ARSACS. Neurol. Sci. 35 (2014), 95–97.
Bouchard, J.P., Richter, A., Melançon, S.B., Mathieu, J., Michaud, J., Autosomal recessive spastic Ataxia (Charlevoix-Saguenay). Klockgether, T., (eds.) Handbook of Ataxia Disorders, 2000, CRC Press, New York, 311–324.
Lavoie, C., Développement et validation de l'échelle de gravité de l'ataxie récessive spastique de Charlevoix-Saguenay (DSI-ARSACS): section pyramidale [Mémoire]. 2015, Université de Sherbrooke, Sherbrooke.
VanDenKerkhof, E.G., Mann, E.G., Torrance, N., et al. An epidemiological study of neuropathic pain symptoms in Canadian adults. Pain Res. Manag., 2016, 2016, 9815750.
Gilmour, H., Ranage-Norin, P., Wong, S., L'épilepsie au Canada : prévalence et conséquences 2016. Available from https://www.statcan.gc.ca/pub/82-003-x/2016009/article/14654-fra.htm.