دورية أكاديمية
Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay
| العنوان: | Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay Ajout de caractéristiques cliniques afin de mieux décrire l'ataxie spastique autosomale récessive de Charlevoix-Saguenay (ARSACS) |
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| المؤلفون: | Briand, Marie-Michèle, Rodrigue, Xavier, Lessard, Isabelle, Mathieu, Jean, Brais, Bernard, Côté, Isabelle, Gagnon, Cynthia |
| المساهمون: | Groupe de recherche interdisciplinaire sur les maladies neuromusculaires |
| المصدر: | Journal of the Neurological Sciences, 400, 39-41 (2019) |
| بيانات النشر: | Elsevier, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | ARSACS, Ataxia disorder, Gait disorder, Adult, Recessive ataxia, Natural history, Human health sciences, Neurology, Sciences de la santé humaine, Neurologie |
| الوصف: | 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. |
| نوع الوثيقة: | journal article http://purl.org/coar/resource_type/c_6501Test article peer reviewed |
| اللغة: | English |
| العلاقة: | https://doi.org/10.1016/j.jns.2019.03.008Test; urn:issn:0022-510X |
| DOI: | 10.1016/j.jns.2019.03.008 |
| الوصول الحر: | https://orbi.uliege.be/handle/2268/235693Test |
| حقوق: | restricted access http://purl.org/coar/access_right/c_16ecTest info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsorb.235693 |
| قاعدة البيانات: | ORBi |
| DOI: | 10.1016/j.jns.2019.03.008 |
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