Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half-siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs. After significant diagnostic delay, genetic testing revealed both harboured a shared, paternally inherited microdeletion encompassing the SACS gene, and each harboured a different single nucleotide variant in SACS, each likely maternally inherited. Recognition of the clinical and radiologic phenotype of ARSACS may facilitate early diagnosis of this disorder even in the face of uncommon inheritance patterns.
Authors
- R. J McKinlay Gardner (ORCID: https://orcid.org/0000-0003-2436-2535)
- Mark R. Davis (ORCID: https://orcid.org/0000-0002-0626-9030)
- Pamela McCombe (ORCID: https://orcid.org/0000-0003-2704-8517)
- Jonathan Rodgers (ORCID: https://orcid.org/0000-0003-0760-8943)
- Dennis Yeow (ORCID: https://orcid.org/0000-0001-7534-7007)
- Matthew Katz (ORCID: https://orcid.org/0000-0002-1796-3546)
- Thomas Robertson (ORCID: https://orcid.org/0000-0001-6152-5511)
Institutions
- The University of Sydney (AU)
- The University of Queensland (AU)
- Royal Brisbane and Women's Hospital (AU)
- Cooperative Trials Group for Neuro-Oncology (AU)
- Prince of Wales Hospital (AU)
- Pathwest Laboratory Medicine (AU)
- University of Otago (NZ)
- Neuroscience Research Australia (AU)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2025-12-07
- DOI
- https://doi.org/10.1002/acn3.70236
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00