Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Habibzadeh, Parham; Tabatabaei, Zahra; Inaloo, Soroor; Nashatizadeh, Muhammad Mahdi; Synofzik, Matthis; Ostovan, Vahid Reza; Faghihi, Mohammad Ali

doi:10.3389/fgene.2020.585136

Cited by 8 publications

(14 citation statements)

References 22 publications

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“…Authors talk about neuropathic pain in the lower limbs (30,31), pain in the lower limbs (32), headache (33) and painful cramps in the neck, upper and lower limbs (4). Spasms and cramps are also reported by other authors (10,30,(34)(35)(36). Results…”

Section: Results Part 1: Comparison Between Literature and Interviewssupporting

confidence: 81%

“…Physical activities. For people with ARSACS, there is a progressive loss of mobility that led to di culty or incapacity to run that began in childhood (33,34,40,68,73,87,96,111). Thus, it brings di culties to perform sports, like team sports or gymnastic (49,58,71,87,96).…”

Section: Results Part 1: Comparison Between Literature and Interviewsmentioning

confidence: 99%

“…There are several functions that are affected by ARSACS: lower limbs, upper limbs, balance, strength, coordination, bladder and bowel functions, sexual functions, dysarthria, eye function, dysphagia, physical activities, and ADLs.Lower limbs and mobility. Even if the literature in ARSACS is scarce, several papers report impaired walking(31)(32)(33)(34), progressive loss of mobility(7, 32, 39, 53, 55-57, 60, 62-75) and the need to use a walking aid early on and progressively move on to a wheelchair(32,35, 38,40,41,45, 46,52,57, 65, 68, 69,71,72,74,(76)(77)(78)(79)(80)(81)(82)(83)(84)(85)(86)(87)). In the sample, 8/12 participants report impacts of this progressive loss of mobility.…”

mentioning

confidence: 99%

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Documenting manifestations and impacts of recessive ataxia to develop patient-reported outcome.

Tremblay

Girard-Côté

Brais

et al. 2022

Preprint

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Background. Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of cerebellum. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is the second most prevalent in Europe. Objectives. The aim of this study is to provide a better understanding of manifestations and impacts of ARSACS. Methods. A systematic review of literature has been conducted followed by a qualitative study using semi-structured interviews and discussion groups to get the experience of people affected. Results. According to the PROMIS framework, results show manifestations and impacts in three components of health: physical, mental, and social. Fatigue and struggles with balance and dexterity are the are the physical manifestations of the disease most often cited by participants. Negative affects like frustration and depression are among the mental health impacts with some loss in cognitive abilities. Social health is the least documented component; nonetheless, people with the disease report significant impacts in terms of social relationships, activities and work. Conclusions. These findings shed a new light on the experience of people with recessive ataxia and identify key aspects to assess to improve their overall health.

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Section: Results Part 1: Comparison Between Literature and Interviewssupporting

confidence: 81%

Section: Results Part 1: Comparison Between Literature and Interviewsmentioning

confidence: 99%

mentioning

confidence: 99%

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Documenting manifestations and impacts of recessive ataxia to develop patient-reported outcome.

Tremblay

Girard-Côté

Brais

et al. 2022

Preprint

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show abstract

“…about the authors discuss neuropathic pain in the lower limbs [ 21 , 23 ], pain in the lower limbs [ 116 ], headache [ 36 ] and painful cramps in the neck, upper limbs and lower limbs [ 13 ]. Spasms and cramps have also been reported by other authors [ 21 , 46 , 48 , 49 , 59 , 74 , 107 ]. The results show that 4/12 participants felt pain in different body parts (knees, shoulders, back, neck, hands, wrists, ankles, legs).…”

Section: Physical Healthsupporting

confidence: 73%

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome

Tremblay

Girard-Côté

Brais

et al. 2022

Orphanet J Rare Dis

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Background Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of the cerebellum. Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is one of the most prevalent in Europe. Objectives The aim of this study is to provide a better understanding of the manifestations and impacts of ARSACS. Methods A systematic review of the literature was conducted, followed by a qualitative study using semistructured interviews and discussion groups to obtain the experience of people affected. Results According to the PROMIS framework, the results show manifestations and impacts in three components of health: physical, mental, and social. Fatigue and struggles with balance and dexterity are the physical manifestations of the disease most often cited by participants. Negative affects such as frustration and depression are among the mental health impacts with some loss in cognitive abilities. Social health is the least documented component; nonetheless, people with the disease report significant impacts in terms of social relationships, activities and work. Conclusions These findings shed new light on the experience of people with recessive ataxia and identify key aspects to assess to improve their overall health.

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“…Thickening in retinal axons was present in the affected patients. Affected family (female proband and her brother) members carried a novel homozygous mutation c.429_430delTT: p. W144VfsTer39 [ 100 ]. Another Iranian case revealed a homozygous A1373R mutation in a child, who was initially diagnosed with spinal muscular atrophy II (SMA-II).…”

Section: Sacs Genetics and Mutationsmentioning

confidence: 99%

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration

Bagaria

Bagyinszky

2022

IJMS

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease that was originally discovered in the population from the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region in Quebec. Although the disease progression of ARSACS may start in early childhood, cases with later onset have also been observed. Spasticity and ataxia could be common phenotypes, and retinal optic nerve hypermyelination is detected in the majority of patients. Other symptoms, such as pes cavus, ataxia and limb deformities, are also frequently observed in affected individuals. More than 200 mutations have been discovered in the SACS gene around the world. Besides French Canadians, SACS genetics have been extensively studied in Tunisia or Japan. Recently, emerging studies discovered SACS mutations in several other countries. SACS mutations could be associated with pathogenicity either in the homozygous or compound heterozygous stages. Sacsin has been confirmed to be involved in chaperon activities, controlling the microtubule balance or cell migration. Additionally, sacsin may also play a crucial role in regulating the mitochondrial functions. Through these mechanisms, it may share common mechanisms with other neurodegenerative diseases. Further studies are needed to define the exact functions of sacsin. This review introduces the genetic mutations discovered in the SACS gene and discusses its pathomechanisms and its possible involvement in other neurodegenerative diseases.

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Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Cited by 8 publications

References 22 publications

Documenting manifestations and impacts of recessive ataxia to develop patient-reported outcome.

Documenting manifestations and impacts of recessive ataxia to develop patient-reported outcome.

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration

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