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  1. Article ; Online: Blood D-serine levels correlate with aging and dopaminergic treatment in Parkinson's disease.

    Imarisio, Alberto / Yahyavi, Isar / Avenali, Micol / Di Maio, Anna / Buongarzone, Gabriele / Galandra, Caterina / Picascia, Marta / Filosa, Asia / Gasparri, Clara / Monti, Maria Cristina / Rondanelli, Mariangela / Pacchetti, Claudio / Errico, Francesco / Valente, Enza Maria / Usiello, Alessandro

    Neurobiology of disease

    2024  Volume 192, Page(s) 106413

    Abstract: We recently described increased D- and L-serine concentrations in the striatum of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-treated monkeys, the post-mortem caudate-putamen of human Parkinson's disease (PD) brains and the cerebrospinal fluid ( ... ...

    Abstract We recently described increased D- and L-serine concentrations in the striatum of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-treated monkeys, the post-mortem caudate-putamen of human Parkinson's disease (PD) brains and the cerebrospinal fluid (CSF) of de novo living PD patients. However, data regarding blood D- and L-serine levels in PD are scarce. Here, we investigated whether the serum profile of D- and L-serine, as well as the other glutamate N-methyl-D-aspartate ionotropic receptor (NMDAR)-related amino acids, (i) differs between PD patients and healthy controls (HC) and (ii) correlates with clinical-demographic features and levodopa equivalent daily dose (LEDD) in PD. Eighty-three consecutive PD patients and forty-one HC were enrolled. PD cohort underwent an extensive clinical characterization. Serum levels of D- and L-serine, L-glutamate, L-glutamine, L-aspartate, L-asparagine and glycine were determined using High Performance Liquid Chromatography. In age- and sex-adjusted analyses, no differences emerged in the serum levels of D-serine, L-serine and other NMDAR-related amino acids between PD and HC. However, we found that D-serine and D-/Total serine ratio positively correlated with age in PD but not in HC, and also with PD age at onset. Moreover, we found that higher LEDD correlated with lower levels of D-serine and the other excitatory amino acids. Following these results, the addition of LEDD as covariate in the analyses disclosed a selective significant increase of D-serine in PD compared to HC (Δ ≈ 38%). Overall, these findings suggest that serum D-serine and D-/Total serine may represent a valuable biochemical signature of PD.
    MeSH term(s) Humans ; Parkinson Disease/drug therapy ; Parkinson Disease/metabolism ; Serine/metabolism ; Dopamine/metabolism ; Levodopa/therapeutic use ; Amino Acids ; Glutamic Acid ; Aging
    Chemical Substances Serine (452VLY9402) ; Dopamine (VTD58H1Z2X) ; Levodopa (46627O600J) ; Amino Acids ; Glutamic Acid (3KX376GY7L)
    Language English
    Publishing date 2024-01-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1211786-9
    ISSN 1095-953X ; 0969-9961
    ISSN (online) 1095-953X
    ISSN 0969-9961
    DOI 10.1016/j.nbd.2024.106413
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    Zs.A 4444: Show issues Location:
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  2. Article ; Online: Functional Study of SNCA p.V15A Variant: Further Linking α-Synuclein and Glucocerebrosidase.

    Avenali, Micol / Cerri, Silvia / Palmieri, Ilaria / Ongari, Gerardo / Stiuso, Rita / Buongarzone, Gabriele / Tassorelli, Cristina / Biagini, Tommaso / Valente, Marialuisa / Cereda, Cristina / Mazza, Tommaso / Gana, Simone / Pacchetti, Claudio / Valente, Enza Maria

    Movement disorders : official journal of the Movement Disorder Society

    2024  

    Abstract: Background: SNCA p.V15A was reported in five families. In vitro models showed increased aggregation and seeding activity, mitochondrial damage, and apoptosis. Mutant flies had reduced flying ability and survival.: Objectives: To clinically and ... ...

    Abstract Background: SNCA p.V15A was reported in five families. In vitro models showed increased aggregation and seeding activity, mitochondrial damage, and apoptosis. Mutant flies had reduced flying ability and survival.
    Objectives: To clinically and functionally evaluate SNCA p.V15A in a large Italian family with Parkinson's disease (PD).
    Methods: Genetic diagnosis was reached through next-generation sequencing. Pathogenicity was assessed by molecular dynamics simulation and biochemical studies on peripheral blood mononuclear cells (PBMCs).
    Results: Five siblings carried SNCA p.V15A; three developed bradykinetic-rigid PD in their 50s with rapid motor progression and variable cognitive impairment. A fourth sibling had isolated mood disturbance, whereas the fifth was still unaffected at age 47. The mutant protein showed decreased stability and an unstable folded structure. Proband's PBMCs showed elevated total and phosphorylated α-synuclein (α-syn) levels and significantly reduced glucocerebrosidase activity.
    Conclusion: This study demonstrates accumulation of α-syn
    Language English
    Publishing date 2024-03-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 607633-6
    ISSN 1531-8257 ; 0885-3185
    ISSN (online) 1531-8257
    ISSN 0885-3185
    DOI 10.1002/mds.29736
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    Zs.MO 238: Show issues

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  3. Article ; Online: HaNDL syndrome: a reversible cerebral vasoconstriction triggered by an infection? A case report and a case-based review.

    Fiamingo, Giuseppe / Canavero, Isabella / Gastaldi, Matteo / Coloberti, Elisa / Buongarzone, Gabriele / Ghiotto, Natascia / Bacila, Ana / Costa, Alfredo / Ravaglia, Sabrina

    European journal of medical research

    2022  Volume 27, Issue 1, Page(s) 196

    Abstract: Background: The syndrome of transient Headache and Neurological Deficits with cerebrospinal fluid (CSF) Lymphocytosis (HaNDL) is classified among secondary headaches attributed to "non-infectious, inflammatory intracranial disease". Despite its ... ...

    Abstract Background: The syndrome of transient Headache and Neurological Deficits with cerebrospinal fluid (CSF) Lymphocytosis (HaNDL) is classified among secondary headaches attributed to "non-infectious, inflammatory intracranial disease". Despite its classification among secondary headaches, the current definition of HaNDL does not contemplate a causal agent. Thus, the aetiology, as well as the pathogenesis of both the headache and the transient focal deficits, remains unknown.
    Case presentation: We describe a 29-year-old healthy male developing episodes of thunderclap headaches associated with recurrence of hemiparesis/hemi-paraesthesia; CSF showed lymphocytosis 200/mm
    Case-based review: Although the definition of HaNDL does not contemplate a viral trigger or abnormal brain imaging, we found other literature cases of HaNDL associated with direct or indirect signs of CNS infection.
    Conclusions: At least in a proportion of patients, a viral aetiology may have a role in HaNDL. Whatever the aetiology, we suggest that the pathogenic mechanism may rely on the (viral or other) agent ultimately triggering cerebral vasoconstriction, which would explain both focal symptoms and headache. Calcium channel blockers might be a therapeutic option.
    MeSH term(s) Adult ; Albumins ; Calcium Channel Blockers ; Epstein-Barr Virus Nuclear Antigens ; Headache/complications ; Headache/diagnosis ; Humans ; Immunoglobulin G ; Immunoglobulin M ; Lymphocytosis/complications ; Lymphocytosis/diagnosis ; Male ; Nervous System Diseases/complications ; Nervous System Diseases/diagnosis ; Nimodipine ; Syndrome ; Vasoconstriction ; Vasospasm, Intracranial/complications
    Chemical Substances Albumins ; Calcium Channel Blockers ; Epstein-Barr Virus Nuclear Antigens ; Immunoglobulin G ; Immunoglobulin M ; Nimodipine (57WA9QZ5WH)
    Language English
    Publishing date 2022-10-08
    Publishing country England
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 1329381-3
    ISSN 2047-783X ; 0949-2321
    ISSN (online) 2047-783X
    ISSN 0949-2321
    DOI 10.1186/s40001-022-00815-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Acute myelitis and ChAdOx1 nCoV-19 vaccine: Casual or causal association?

    Vegezzi, Elisa / Ravaglia, Sabrina / Buongarzone, Gabriele / Bini, Paola / Diamanti, Luca / Gastaldi, Matteo / Prunetti, Paolo / Rognone, Elisa / Marchioni, Enrico

    Journal of neuroimmunology

    2021  Volume 359, Page(s) 577686

    Abstract: A 44-year-old previously healthy woman developed acute myelitis in close temporal relationship with ChAdOx1 nCoV-19 vaccine first-dose administration. The neurological involvement was mainly sensory with neuroimaging showing two mono-metameric lesions ... ...

    Abstract A 44-year-old previously healthy woman developed acute myelitis in close temporal relationship with ChAdOx1 nCoV-19 vaccine first-dose administration. The neurological involvement was mainly sensory with neuroimaging showing two mono-metameric lesions involving the posterior and lateral cord at dorsal level. Significant improvement was promptly recorded with high-dose intravenous steroids, with complete recovery within one month. The strict temporal relationship between vaccination and myelitis, together with the absence of clues pointing to alternative diagnoses, might suggest a conceivable role for anti-SARS-CoV-2 vaccine as immunological trigger, although a causal relationship has yet to be established and our preliminary observation suggests caution.
    MeSH term(s) Acute Disease ; Adult ; COVID-19/prevention & control ; COVID-19 Vaccines/administration & dosage ; COVID-19 Vaccines/adverse effects ; ChAdOx1 nCoV-19 ; Female ; Humans ; Myelitis/chemically induced ; Myelitis/diagnostic imaging
    Chemical Substances COVID-19 Vaccines ; ChAdOx1 nCoV-19 (B5S3K2V0G8)
    Language English
    Publishing date 2021-07-31
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 8335-5
    ISSN 1872-8421 ; 0165-5728
    ISSN (online) 1872-8421
    ISSN 0165-5728
    DOI 10.1016/j.jneuroim.2021.577686
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  5. Article ; Online: A de novo C19orf12 heterozygous mutation in a patient with MPAN.

    Monfrini, Edoardo / Melzi, Valentina / Buongarzone, Gabriele / Franco, Giulia / Ronchi, Dario / Dilena, Robertino / Scola, Elisa / Vizziello, Paola / Bordoni, Andreina / Bresolin, Nereo / Comi, Giacomo Pietro / Corti, Stefania / Di Fonzo, Alessio

    Parkinsonism & related disorders

    2017  Volume 48, Page(s) 109–111

    MeSH term(s) Adolescent ; DNA Mutational Analysis ; Female ; Humans ; Magnetic Resonance Imaging ; Mitochondrial Proteins/genetics ; Mitochondrial Proteins/metabolism ; Mutation/genetics ; Neurodegenerative Diseases/diagnostic imaging ; Neurodegenerative Diseases/genetics
    Chemical Substances C19orf12 protein, human ; Mitochondrial Proteins
    Language English
    Publishing date 2017-12-27
    Publishing country England
    Document type Case Reports ; Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2017.12.025
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  6. Article ; Online: X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.

    Ciammola, Andrea / Carrera, Paola / Di Fonzo, Alessio / Sassone, Jenny / Villa, Roberta / Poletti, Barbara / Ferrari, Maurizio / Girotti, Floriano / Monfrini, Edoardo / Buongarzone, Gabriele / Silani, Vincenzo / Cinnante, Claudia Maria / Mignogna, Maria Lidia / D'Adamo, Patrizia / Bonati, Maria Teresa

    Parkinsonism & related disorders

    2017  Volume 44, Page(s) 142–146

    Abstract: Background: RAB39B pathogenic variants cause X-linked Parkinsonism associated with Intellectual Disability, known as Waisman syndrome, a very rare disorder that has been mainly identified through exome sequencing in large Parkinson's disease cohorts. In ...

    Abstract Background: RAB39B pathogenic variants cause X-linked Parkinsonism associated with Intellectual Disability, known as Waisman syndrome, a very rare disorder that has been mainly identified through exome sequencing in large Parkinson's disease cohorts. In this study we searched for pathogenic variants in RAB39B in two Italian families affected by X-linked early-onset Parkinsonism and Intellectual Disability.
    Methods: Three patients received neurological evaluation and underwent RAB39B sequencing.
    Results: Two novel RAB39B frameshift variants were found to result in the absence of RAB39B protein (family 1: c.137dupT; family 2: c.371delA). Patients showed unilateral rest tremor and bradykinesia; one of them also displayed an early-onset postural tremor. Paramagnetic substance deposition in the substantia nigra, globus pallidi, red nucleus, putamen and pulvinar was assessed by brain imaging. Two patients also showed moderate calcification of globus pallidi.
    Conclusion: In this study we highlight the evidence that X-linked early-onset Parkinsonism associated with Intellectual Disability occurs as a pattern of clinical and neuroimaging features attributable to RAB39B pathogenic variants.
    MeSH term(s) Aged ; Basal Ganglia Diseases/genetics ; Genetic Diseases, X-Linked/genetics ; Humans ; Intellectual Disability/genetics ; Male ; Middle Aged ; Mosaicism ; Mutation ; Parkinson Disease/genetics ; Pedigree ; rab GTP-Binding Proteins/genetics
    Chemical Substances Rab39B protein, human (EC 3.6.1.-) ; rab GTP-Binding Proteins (EC 3.6.5.2)
    Language English
    Publishing date 2017-11
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2017.08.021
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  7. Article ; Online: Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease.

    Buongarzone, Gabriele / Monfrini, Edoardo / Franco, Giulia / Trezzi, Ilaria / Borellini, Linda / Frattini, Emanuele / Melzi, Valentina / Di Caprio, Anna Chiara / Ronchi, Dario / Monzio Compagnoni, Giacomo / Cogiamanian, Filippo / Ardolino, Gianluca / Bresolin, Nereo / Comi, Giacomo P / Corti, Stefania / Di Fonzo, Alessio

    Parkinsonism & related disorders

    2017  Volume 39, Page(s) 87–88

    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Family Health ; Female ; Genetic Association Studies ; Humans ; Italy ; Male ; Membrane Proteins/genetics ; Middle Aged ; Mutation/genetics ; Parkinsonian Disorders/genetics ; Retrospective Studies ; Young Adult
    Chemical Substances Membrane Proteins ; TMEM230 protein, human
    Language English
    Publishing date 2017-03-09
    Publishing country England
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2017.03.007
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