Publications by authors named "P Avoni"

Introduction: Intraspinal cerebrospinal fluid (CSF) collection has been reported as a rare cause of lower motor neuron (LMN) disorder. We report a case of bibrachial diplegia associated with intraspinal CSF collection and perform a systematic literature review.

Patient And Methods: A 52-year-old man developed a bibrachial amyotrophy over 6 years, confirmed by the presence of cervical subacute neurogenic changes at electromyography (EMG).

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  • Recent studies show that plasma GFAP levels are elevated in ALS patients compared to healthy controls, indicating a potential link between GFAP and ALS pathology.
  • In a larger study with 156 ALS patients, higher plasma GFAP levels were associated with cognitive decline and differentiated patients with Alzheimer's disease pathology (ALS-AD) from those without.
  • Plasma GFAP proved to be a more accurate biomarker for identifying Alzheimer’s co-pathology in ALS patients than other biomarkers like p-tau181 and neurofilament light chain protein.
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  • * Plasma p-tau181 levels are significantly associated with lower motor neuron dysfunction and the progression of ALS over time, making it a potential prognostic marker for the disease.
  • * The study suggests that the elevated p-tau181 in ALS may originate from peripheral sources and poses questions about its role in Alzheimer's pathology screening, warranting further exploration.
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Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by a (CTG) expansion in the DM protein kinase (DMPK) gene, representing the most common adult muscular dystrophy, characterized by a multisystem involvement with predominantly skeletal muscle and brain affection. Neuroimaging studies showed widespread white matter changes and brain atrophy in DM1, but only a few studies investigated the role of white matter metabolism in the pathophysiology of central nervous system impairment. We aim to reveal the relationship between the metabolic profile of parieto-occipital white matter (POWM) as evaluated with proton MR spectroscopy technique, with the visuoperceptual and visuoconstructional dysfunctions in DM1 patients.

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