Publications by authors named "G Coarelli"
Objective: Spinocerebellar ataxias (SCA) are neurodegenerative diseases with widespread lesions across the central nervous system. Ataxia and spasticity are usually predominant, but patients may also present with parkinsonism. We aimed to characterize substantia nigra pars compacta (SNc) degeneration in SCA2 and 7 using neuromelanin-sensitive imaging.
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- This study aimed to understand how hereditary spastic paraplegias (HSP) affect bladder function and symptoms in patients.
- A retrospective review included 122 mostly male patients, revealing that bladder dysfunction typically starts later than motor issues and is linked to specific genetic mutations.
- The findings highlight that detrusor overactivity is common among these patients, indicating bladder issues often arise as mobility worsens.
Article Synopsis
- The study focuses on identifying valid digital-motor outcome measures using wearable sensors for spastic paraplegia type 7 (SPG7), a common spastic ataxia, aiming to reflect health aspects relevant to patients in early disease stages and suitable for multicenter trials.
- Gait analysis was performed in 65 SPG7 patients and 50 healthy controls, where 18 out of 30 analyzed gait measures effectively discriminated between the two groups, even in mild disease stages.
- Key findings highlighted that specific spatiotemporal variability measures strongly correlate with functional mobility and overall disease severity, indicating their potential as sensitive outcome measures for future trials.
Article Synopsis
- - The study investigated changes in biological, clinical, and imaging markers in carriers of spinocerebellar ataxia (SCA) types 2 and 7 over one year, focusing on MRI and neurofilament light chain (NfL) levels.
- - It included assessments of neurological function, quality of life, and brain imaging among 15 SCA2 carriers, 15 SCA7 carriers, and 10 control subjects, while noting differences in SARA scores and brain volume from baseline measurements.
- - Results indicated significant brain volume loss and worsening motor function in SCA2 carriers, an increase in SARA scores and thinning of retinal layers in SCA7, highlighting the progressive nature of these at
Article Synopsis
- The Scale for Assessment and Rating of Ataxia (SARA) is a key clinical tool for evaluating cerebellar ataxia but has received criticism regarding the relevance of its assessment items.
- A study involving 850 patients across different types of spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6) revealed significant differences in progression rates among cohorts, particularly with the EUROSCA cohort showing the fastest rates.
- The analysis found that not all items on the SARA scale contribute equally to measuring ataxia severity, and while some items are more sensitive to changes early or late in the disease, overall adjustments to the scale did not enhance responsiveness across different patient