Publications by authors named "Grazia Maria Igea Falcone"
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and disease spectrum is an autosomal recessive disorder associated with biallelic repeat expansion (RE) in the RFC1 gene. A high carrier frequency in the healthy population determines the possibility of having affected members in two consecutive generations. We describe pseudodominance in two families affected with RFC1 disorder (10 affected, 5 oligo/asymptomatic individuals).
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- Autosomal-dominant spinocerebellar ataxia (ADCA) caused by GAA repeat expansion in the FGF14 gene, known as SCA27B, is a common form of late-onset ataxia recently identified in Italy.
- A study was conducted on 396 patients diagnosed with late-onset cerebellar ataxias, revealing a prevalence of 13.4% for SCA27B, with higher rates in the ADCA subgroup, and detailing various clinical features like impaired balance and gait issues.
- The findings indicate that SCA27B results in adult-onset, slowly progressive ataxia with consistent clinical characteristics across different populations, suggesting the need for larger, multi-center