Objective: Report a case of ARSACS in a patient with 2 siblings also affected

Background: Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare disease of childhood onset, caused by mutations in the SACS gene that encodes the protein Sacsin. Originally identified in the regions of Charlevoix-Saguenay, Canada and described in 1978 as a pathology that presents cerebellar ataxia, peripheral neuropathy and spasticity. Clinical diagnosis takes into account 3 main features [Table 1]. Image studies show abnormalities on MRI like atrophy of the superior vermis and cerebellar hemisphere. Genetic diagnosis needs a genetic sequencing panel study or exome sequencing analysis. Treatment focuses on rehabilitation and symptoms reduction.

Method: A 54 yo mestizo woman originally from Mexico City, born from a non-consanguineous marriage, no history of Canadian descent and 2 siblings also affected with a genetic diagnosis of ARSACS. She started at 16 yo with unstable gait, later visual disturbances, dysarthria, generalized hypoesthesia and pes cavus. Examination with dysarthria, dysmetric saccades, nystagmus, cerebellar ataxia, postural instability, requiring a wheelchair to get around.

Results: SARA (Scale for the Assessment and Rating of Ataxia): 23 points, ICARS (International Co-Operative Ataxia Rating Scale): 47 points. Archimedean spiral with crossed lines on periphery [Figure 1]. Neurophysiological studies with peripheral axonal and demyelinating sensory-motor neuropathy of the 4 extremities. MRI generalized corticosubcortical and cerebellar vermis atrophy [figure 2]. Genetic study in her brothers with mutation in 2 variants (pathogenic and probably pathogenic) in the SACS gene.

Conclusion: ARSACS is a rare disease with a late onset when it presents out of Canadian population, diagnosis must be suspected in patient’s cerebellar ataxia with spasticity and peripheral neuropathy. Evaluation of this patients must include CT/MRI with early and progressive superior cerebellar vermian atrophy and the diagnosis is confirmed by genetic studies with many reported mutations on the SACS gene in different populations. Unfortunately, curative therapy is not available and all treatments are symptomatic and directed to physical rehabilitation.

[Table 1]. Clinical features.

[Figure 1]. Archimedean spirals

[Figure 2]. MRI Axial, sagittal and coronal views.

References: Briand MM, Rodrigue X, Lessard I, Mathieu J, Brais B, Côté I, Gagnon C. Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay. J Neurol Sci. 2019 May 15;400:39-41. doi: 10.1016/j.jns.2019.03.008. Epub 2019 Mar 12. PMID: 30901567.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-case-report-with-3-family-members-affected/