Publications by authors named "Elena Capacci"
Article Synopsis
- 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
Cerebellar syndromes are clinically and etiologically heterogeneous and can be classified as hereditary, neurodegenerative non-hereditary, or acquired. Few data are available on the frequency of each form in the clinical setting. Growing interest is emerging regarding the genetic forms caused by triplet repeat expansions.
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- Huntington's disease (HD) features motor, cognitive, and psychiatric symptoms due to an expansion of CAG repeats in the huntingtin gene, and might manifest early through psychiatric issues before motor symptoms arise.
- A study involving 69 patients with bipolar disorder in Italy found no carriers of the pathological allele, but 10% had an intermediate allele linked to age at symptom onset.
- The results suggest that while the pathological allele is not associated with bipolar disorder, a higher frequency of the intermediate allele among bipolar patients indicates the need for further research into shared mechanisms between HD and bipolar disorder.