Publications by authors named "A Ciammola"

Background: Progressive Supranuclear Palsy (PSP) is a rare, heterogeneous neurodegenerative disease for which no treatment is currently available. In the context of clinical trials, the representativeness of the included patients is crucial for the generalizability of the results. Herein, we present results from a multicenter perspective study to identify the most restrictive criteria for patient selection and to assess the representativeness of eligible patients.

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Background: . The present study aimed at deriving regression-based reliable change indices (RCIs) for the Montreal Cognitive Assessment (MoCA) in an Italian cohort of non-demented Parkinson's disease (PD) patients.

Methods: N = 33 consecutive, non-demented PD patients were followed-up at a 5-to-8-month interval (M = 6.

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Mutations in the PRKN gene encoding the protein parkin cause autosomal recessive juvenile parkinsonism (ARJP). Harnessing this mutation to create an early-onset Parkinson's disease mouse model would provide a unique opportunity to clarify the mechanisms involved in the neurodegenerative process and lay the groundwork for the development of neuroprotective strategies. To this end, we created a knock-in mouse carrying the homozygous PrknR275W mutation, which is the missense mutation with the highest allelic frequency in PRKN patients.

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Article Synopsis
  • Family history of Parkinson's disease (PD) was examined in a study involving 2035 PD patients across 28 Italian centers, revealing that 21.9% had a family history of the disease.
  • Familial PD (fPD) patients experienced symptoms at an earlier age compared to sporadic PD (sPD) patients, although both groups showed similar prevalence of motor and nonmotor symptoms.
  • The findings suggest that fPD occurs more frequently than previously thought, highlighting the need for comprehensive family history taking to uncover potential disease patterns and risk factors.
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