Alberto Imarisio

What Does α‐Syn‐ SAA ‐Negative Parkinson's Disease Reveal About the Proposed “Biological Definition” of Parkinson's Disease?

Alberto J. Espay, Francisco Cardoso, Steven J. Frucht, Alberto Imarisio et autres

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Disruption of central dopamine metabolism in infants with severe spinal muscular atrophy

Tommaso Nuzzo, Barbara Risi, Valentina Bassareo, Adele D'Amico et autres

Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by reduced expression of the survival motor neuron (SMN) protein. In addition to affecting motor neuron survival, SMN deficiency impacts multisystem physiology and neurotransmission. Dopaminergic dysfunction has been reported in mouse models …

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Plasma extracellular vesicles and phosphorylated tau 181 as early biomarkers of cognitive impairment in Alzheimer’s dementia

Viviana Brembati, Daniela Crescenti, Andrea Geviti, Elisa Rossini et autres

BACKGROUND: Timely and accurate diagnosis of Alzheimer’s disease (AD) in clinical practice is a great challenge, especially during early disease stages with subtle or mild symptoms of cognitive decline. Moreover, robust and more accessible blood-based screening tests for early diagnosis are needed. …

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Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant

Micol Avenali, Carlo Alberto Artusi, Roberto Cilia, Giulia Giannini et autres

BACKGROUND AND OBJECTIVES: genotype and DBS on long-term motor and nonmotor outcomes. METHODS: variant class and DBS target. RESULTS: -between <0.001 and 0.02, respectively), regardless of DBS. No relevant differences emerged on stratification for variant classes or DBS targets, up to 3 …

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Independent serum metabolomics approaches identify disrupted glutamic acid and serine metabolism in Parkinson’s disease patients

Jacopo Gervasoni, Carmen Marino, Alberto Imarisio, Lavinia Santucci et autres

Whether distinct blood metabolomic profiles can distinguish Parkinson’s disease (PD) patients from healthy controls (HC) is still a matter of debate. Here, we employed ¹H-NMR and UPLC/MS analyses on serum samples from a cohort of PD patients and HC. Compared to HC, …

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Refutation of the αSyn ‐ SAA ‐Based Staging for Parkinson's Progression (Neuronal α‐Synuclein Disease‐Integrated Staging System [NSD ‐ ISS] )

Alberto J. Espay, Francisco Cardoso, Steven J. Frucht, Alberto Imarisio et autres

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Physics of Protein Aggregation in Normal and Accelerated Brain Aging

Alberto J. Espay, Andrea Sturchio, Alberto Imarisio, Emily J. Hill et autres

Protein aggregation is a normal response to age-related exposures. According to the thermodynamic hypothesis of protein folding, soluble proteins precipitate into amyloids (pathology) under supersaturated conditions through a process similar to crystallization. This soluble-to-insoluble phase transition occurs via nucleation and may be …

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Independent serum metabolomics approaches identify disrupted glutamic acid and serine metabolism in Parkinson’s disease patients

Jacopo Gervasoni, Carmen Marino, Alberto Imarisio, Lavinia Santucci et autres

Abstract Previous studies assessing blood metabolomic profiles in Parkinson’s disease (PD) patients showed inconsistent results. Here, we employed ¹H-NMR and UPLC/MS analyses on serum samples from a cohort of PD patients and healthy controls (HC). Compared to HC, PD patients showed: (i) …

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Alpha-synuclein in Parkinson's disease: Embracing debate, exercising skepticism

Alberto J. Espay, Andrew J. Lees, Francisco Cardoso, Steven J. Frucht et autres

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D‐ and L‐Amino Acid Blood Concentrations Are Affected in Children With Duchenne Muscular Dystrophy

Martina Garofalo, Chiara Panicucci, Alberto Imarisio, Tommaso Nuzzo et autres

Duchenne muscular dystrophy (DMD) is an X-linked disease caused by the absence of functional dystrophin in the muscle cells. Recent untargeted metabolomics studies identified amino acid metabolism alterations as biochemical pathways potentially involved in DMD pathogenesis. Here, in a well-characterised cohort of …

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1H-NMR-based metabolomics identifies disrupted betaine metabolism as distinct serum signature of pre-frailty

Carmen Marino, Alberto Imarisio, Clara Gasparri, Enza Napolitano et autres

Increasing evidence suggests that frailty results from a complex age-associated metabolic decline. Here, we investigated the serum metabolomic profile of a well-characterized cohort of elderly subjects encompassing the whole fit-to-frail continuum. Enrichment analyses revealed a complex dysregulation of amino acids and energy …

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Mitochondrial DNA ( mtDNA ) as fluid biomarker in neurodegenerative disorders: A systematic review

Barbara Risi, Alberto Imarisio, Giada Cuconato, Alessandro Padovani et autres

BACKGROUND: Several studies evaluated peripheral and cerebrospinal fluid (CSF) mtDNA as a putative biomarker in neurodegenerative diseases, often yielding inconsistent findings. We systematically reviewed the current evidence assessing blood and CSF mtDNA levels and variant burden in Parkinson's disease (PD), Alzheimer's disease …

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