The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS.
Vincenzo Sortino, Annamaria Sapuppo, Anastasia Bernabini et al.
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Case in brief
A 16-year-old Sicilian girl, born to consanguineous parents, presented with the classical symptoms of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), including progressive cerebellar ataxia, pyramidal spasticity, and demyelinating sensorimotor polyneuropathy. She also exhibited mild intellectual disability with an IQ of 60, early-onset axial hypotonia, and significant retinal nerve fiber layer thickening. Longitudinal imaging revealed progressive cerebellar vermis atrophy.
What made this case unusual
The case highlights the cognitive impairment and intellectual disability associated with the recurrent SACS gene variant p.Arg272His, which may be under-recognized in ARSACS patients.
Diagnostic / clinical pearl
Clinicians should consider cognitive assessment in patients with ARSACS, particularly those with the p.Arg272His variant, as intellectual disability may be a significant but overlooked feature.
Why it matters
This case underscores the need for standardized neuropsychological evaluations in ARSACS to enhance understanding of the disorder's full clinical spectrum.