Publications by authors named "A F Govoni"

Impulsive-compulsive behaviors (ICB) are common non-motor symptoms of Parkinson's disease (PD) often associated with dopaminergic drugs (DD) therapy. We investigated the acute effects of DD on decision-making in PD patients with ICB (ICB+) and without it (ICB-), and in healthy controls (HC). Participants performed a risk-based decision-making task twice, with PD patients tested before (DD OFF) and after (DD ON) DD intake.

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Introduction/aims: Fatigue (subjective perception) and fatigability (objective motor performance worsening) are relevant aspects of disability in individuals with spinal muscular atrophy (SMA). The effect of nusinersen on fatigability in SMA patients has been investigated with conflicting results. We aimed to evaluate this in adult with SMA3.

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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
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Article Synopsis
  • Becker muscular dystrophy (BMD) is a genetic muscle disorder caused by mutations in the dystrophin gene, resulting in varying degrees of disability among patients.
  • A study followed 28 adult BMD patients for up to 24 months, assessing their clinical progression through various tests, including the North Star Ambulatory Assessment and muscle MRI.
  • The findings revealed significant variability in disease severity, particularly in patients with specific genetic deletions, underscoring the challenge of creating a standardized treatment approach and the importance of identifying predictive markers for patient care.
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