Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil

Burguêz, Daniela; Oliveira, Camila Maria de; Rockenbach, Márcio Aloisio Bezerra Cavalcanti; Fussiger, Helena; Vedolin, Leonardo; Winckler, Pablo Brea; Maestri, Marcelo Krieger; Finkelsztejn, Alessandro; Santorelli, Filippo M.; Jardim, Laura Bannach; Saute, Jonas Alex Morales

doi:10.1590/0004-282x20170044

Cited by 7 publications

(6 citation statements)

References 28 publications

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“…Patients presented early-onset and slow progressive spastic ataxia. Retinal and nerve conduction abnormalities were also prominent [ 117 ]. In 2019, 13 Brazilian patients were investigated with ARSACS, who presented ataxia, spasticity and retinal nerve fiber thickening.…”

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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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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“…Some foot deformities are also reported in ARSACS, such as pes cavus, hammer toes and foot drop, without clear prevalence [ 1 – 3 , 5 – 7 , 9 , 12 , 13 , 22 , 23 , 27 , 30 , 34 , 38 – 40 , 52 , 55 , 56 , 59 , 62 – 64 , 66 , 69 , 72 , 74 , 78 , 79 , 81 , 91 , 93 , 95 , 96 , 99 – 102 , 106 , 107 , 109 , 110 , 115 , 116 , 120 , 122 , 129 , 136 , 137 , 141 ]. Only 2/12 participants reported foot deformities that impacted their life.…”

Section: Physical Healthmentioning

confidence: 99%

“…Balance difficulties are clearly reported in the literature [ 1 – 3 , 5 , 12 , 13 , 19 , 22 , 28 , 36 , 46 , 48 , 49 , 59 , 64 , 71 , 76 , 78 – 80 , 83 , 87 , 89 , 99 , 106 , 116 , 117 , 119 , 123 , 133 , 140 , 141 , 143 , 144 ]. Almost all participants reported experiencing problems with balance.…”

Section: Physical Healthmentioning

confidence: 99%

“…Even if strength seems normal for affected children, progressive and variable disabilities in strength are seen in ARSACS [ 19 , 20 , 47 , 111 , 141 ], in addition to muscle atrophy and weakness that affect both upper and lower limbs [ 1 , 4 – 7 , 9 , 13 , 20 , 22 , 23 , 27 , 36 , 46 – 49 , 52 , 54 – 56 , 63 , 66 , 69 , 71 , 74 , 78 , 79 , 82 , 83 , 87 , 93 , 99 , 100 , 102 , 104 , 106 , 109 – 111 , 117 , 121 , 122 , 129 , 131 , 136 , 137 , 143 , 144 ]. Data showed that 8/12 participants reported muscle weakness, particularly in the legs, ankles, and hands.…”

Section: Physical Healthmentioning

confidence: 99%

“…A wide range of dysarthria severity (mild to severe) are documented [ 2 – 7 , 9 – 13 , 15 , 16 , 18 , 20 , 22 , 27 , 28 , 30 , 34 , 38 – 40 , 51 , 53 , 56 , 57 , 59 , 60 , 62 – 64 , 66 , 67 , 69 , 71 , 72 , 74 , 79 , 80 , 82 , 83 , 85 , 87 , 89 , 91 , 92 , 95 , 99 , 101 – 103 , 110 , 112 , 113 , 116 , 117 , 119 , 120 , 122 – 124 , 127 – 129 , 131 – 134 , 136 – 141 , 144 ]. The authors described dysarthria in terms of slurred or unclear speech [ 3 , 22 , 66 , 87 , 103 , 134 ], delay in speech production [ 140 ], and slow speech [ 141 , 144 ]. Among the participants, 5/12 noted di...…”

Section: Physical Healthmentioning

confidence: 99%

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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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MRI‐ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study

Scaravilli,

Negroni,

Senatore

et al. 2024

Movement Disorders

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BackgroundAutosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) and hereditary spastic paraplegia type 7 (SPG7) represent the most common genotypes of spastic ataxia (SPAX). To date, their magnetic resonance imaging (MRI) features have only been described qualitatively, and a pure neuroradiological differential diagnosis between these two conditions is difficult to achieve.ObjectivesTo test the performance of MRI measures to discriminate between ARSACS and SPG7 (as an index of common SPAX disease).MethodsIn this prospective multicenter study, 3D‐T1‐weighted images of 59 ARSACS (35.4 ± 10.3 years, M/F = 33/26) and 78 SPG7 (54.8 ± 10.3 years, M/F = 51/27) patients of the PROSPAX Consortium were analyzed, together with 30 controls (45.9 ± 16.9 years, M/F = 15/15). Different linear and surface measures were evaluated. A receiver operating characteristic analysis was performed, calculating area under the curve (AUC) and corresponding diagnostic accuracy parameters.ResultsThe pons area proved to be the only metric increased exclusively in ARSACS patients (P = 0.02). Other different measures were reduced in ARSACS and SPG7 compared with controls (all with P ≤ 0.005). A cut‐off value equal to 1.67 of the pons‐to‐superior vermis area ratio proved to have the highest AUC (0.98, diagnostic accuracy 93%, sensitivity 97%) in discriminating between ARSACS and SPG7.ConclusionsEvaluation of the pons‐to‐superior vermis area ratio can discriminate ARSACS from other SPAX patients, as exemplified here by SPG7. Hence, we hereby propose this ratio as the Magnetic Resonance Index for the Assessment and Recognition of patients harboring SACS mutations (MRI‐ARSACS), a novel diagnostic tool able to identify ARSACS patients and useful for discriminating ARSACS from other SPAX patients undergoing MRI. © 2024 International Parkinson and Movement Disorder Society.

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil

Cited by 7 publications

References 28 publications

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

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

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

MRI‐ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study

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