Extending The Genetic And Clinical Range Of Charlevoix Saguenay's Autosomal Recessive Spastic Ataxia- A Case Report
DOI:
https://doi.org/10.53555/ejac.v20i1.1163Keywords:
ARSACS, SACS gene, Neurodegenerative disorders, Cerebellar ataxia, Sensorineural hearing loss, Genetic counselingAbstract
A relatively rare neurological disease called Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is characterized by early-onset ataxia, neuropathy, and spasticity caused on by mutations in the SACS gene. This case report discusses a 23-year-old female presenting with progressive ataxia, sensory neuropathy, and bilateral sensorineural hearing loss. Genetic testing identified a single heterozygous variant in the SACS gene, potentially associated with ARSACS, though typically two variants are required for diagnosis. The absence of a second mutation poses a challenge, suggesting the need for further genetic analysis to detect possible intronic mutations or large deletions. This case expands the known clinical spectrum of ARSACS and highlights the importance of comprehensive molecular testing and genetic counseling to better understand the disease's genetic basis and presentation.
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