Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review

Rudenskaya, G. E.; Kadnikova, V. A.; Рыжкова, О. П.

doi:10.17116/jnevro202012002185

Cited by 2 publications

(2 citation statements)

References 53 publications

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“…The typical disease phenotype of ARSACS includes the early onset of the disease, slow progression, cerebellar ataxia, spasticity, cerebellar atrophy, neuropathy, axonal demyelination and retinal nerve thickening. Additional symptoms, such as mental retardation, later disease onset and cognitive dysfunction, were also reported [ 19 , 68 ]. Interestingly, atypical cases of disease may also be possible (for example, lack of spasticity or retinal optic nerve hypermyelination), apart from the typical phenotype [ 4 , 83 , 85 ].…”

Section: Discussion and Future Insightsmentioning

confidence: 99%

“…A Russian case of the disease was discovered with atypically late onset of ARSACS and c.72276C>T (p.R2426X) mutation. The patient developed typical ataxia symptoms at the age of 32 years [ 68 ]. A Norwegian case of a compound heterozygous mutations c.13352T>C, p.L4451P; c.6890T>G, p.L2297W were found in a family with a typical form of spastic ataxia and other dysfunctions, such as cognitive decline and epilepsy [ 69 ].…”

Section: Sacs Genetics and Mutationsmentioning

confidence: 99%

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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: Discussion and Future Insightsmentioning

confidence: 99%

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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To the question of differentiation of ataxias (analytical review)

Myronenko

Fedorkovsky²

2022

vmirvz

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Based on the analysis of numerous studies, the authors summarized the current understanding of the problem of cerebellar ataxia. Issues related to the cause of the development of coordinating disorders, pathophysiological mechanisms of their occurrence, depending on trigger factors, are consistently covered. The features of the clinical course of acquired and congenital ataxias are systematized, their differential diagnostic differences are presented. Methods for diagnosing cerebellar ataxia are highlighted, diagnostic information content of laboratory, genetic, instrumental research methods is shown. The main directions of drug and non-drug methods of treatment of cerebellar ataxia are considered, their effectiveness is given. The main principles of rehabilitation of this group of patients are formulated.

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Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review

Cited by 2 publications

References 53 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

To the question of differentiation of ataxias (analytical review)

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