CGG Repeat Expansion in GIPC1 is Associated with Childhood‐Onset Hereditary Ataxia

Key Points

• This research aims to explore the connection between CGG repeat expansion in the GIPC1 gene and childhood-onset hereditary ataxia.
• Identified cases of childhood-onset hereditary ataxia
• Analyzed genetic mutations, specifically CGG repeat expansion
• Evaluated cognitive and neurological impairments
• Defined a new subtype of hereditary ataxia associated with GIPC1 CGG repeat expansion
• Observed mild cognitive impairment in affected individuals
• Documented neurogenic involvement in patients with GIPC1 mutations