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Detection of α-synuclein in CSF by RT-QuIC in patients with isolated rapid-eye-movement sleep behaviour disorder: a longitudinal observational study.

Alex Iranzo, Graham Fairfoul, Anutra Chumbala Na Ayudhaya, Monica Serradell, Ellen Gelpi, Isabel Vilaseca, Raquel Sanchez-Valle, Carles Gaig, Joan Santamaria, Eduard Tolosa, Renata L Riha, Alison J E Green,

<h4>Background</h4>Isolated rapid-eye-movement (REM) sleep behaviour disorder (IRBD) can be part of the prodromal stage of the α-synucleinopathies Parkinson's disease and dementia with Lewy bodies. Real-time quaking-induced conversion (RT-QuIC) analysis of CSF has high sensitivity and specificity for the detection of misfolded α-synuclein in patients with Parkinson's disease and dementia with ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2021, 20(3):203-212]

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Magnetic resonance imaging abnormalities as a marker of multiple system atrophy in isolated rapid eye movement sleep behavior disorder.

Amaia Muñoz-Lopetegi, Joan Berenguer, Alex Iranzo, Monica Serradell, Teresa Pujol, Carles Gaig, Esteban Muñoz, Eduard Tolosa, Joan Santamaría,

<h4>Study objectives</h4>Patients with isolated rapid eye movement (REM) sleep behavior disorder (IRBD) develop Parkinson disease (PD), dementia with Lewy bodies (DLB), or multiple system atrophy (MSA). Magnetic resonance imaging (MRI) is abnormal in MSA showing abnormalities in the putamen, cerebellum, and brainstem. Our objective was to evaluate the usefulness of ... Read more >>

Sleep (Sleep)
[2021, 44(1):]

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Cortical cholinergic dysfunction correlates with microglial activation in the substantia innominata in REM sleep behavior disorder.

Kristian Stær, Alex Iranzo, Morten G Stokholm, Karen Østergaard, Mónica Serradell, Marit Otto, Kristina B Svendsen, Alicia Garrido, Dolores Vilas, Joan Santamaria, Arne Møller, Carles Gaig, David J Brooks, Per Borghammer, Eduardo Tolosa, Nicola Pavese,

<h4>Introduction</h4>In vivo PET studies in patients with isolated REM sleep behavior disorder (iRBD) have shown presence of neuroinflammation (microglial activation) in the substantia nigra, and reduced cortical acetylcholinesterase activity, suggestive of cholinergic dysfunction, that was more widespread in patients with poorer cognitive performances. This study aimed to explore whether reduced ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2020, 81:89-93]

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Significance of hyposmia in isolated REM sleep behavior disorder.

Alex Iranzo, Paula Marrero-González, Mónica Serradell, Carles Gaig, Joan Santamaria, Isabel Vilaseca,

<h4>Objective</h4>To determine if hyposmia in isolated REM sleep behavior disorder (IRBD) predicts short-term conversion to any α-synucleinopathy and declines with time.<h4>Methods</h4>Olfaction was tested using the University of Pennsylvania Smell Identification Test (UPSIT-40) in 140 consecutive patients with polysomnography-confirmed IRBD and in 77 matched controls. Patients were followed-up during 5.6 ± 3.9 (range ... Read more >>

J Neurol (Journal of neurology)
[2020, :]

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Stridor during sleep: description of 81 consecutive cases diagnosed in a tertiary sleep disorders center.

Cristiana Silva, Alex Iranzo, Gerard Maya, Mónica Serradell, Amaia Muñoz-Lopetegi, Paula Marrero-González, Carles Gaig, Joan Santamaría, Isabel Vilaseca,

<h4>Objective</h4>To describe the characteristics of stridor during sleep (SDS) in a series of adults identified by video-polysomnography (V-PSG).<h4>Methods</h4>Retrospective clinical, V-PSG, laryngoscopic and therapeutic data of patients diagnosed with SDS in a tertiary referral sleep disorders center between 1997 and 2017.<h4>Results</h4>Eighty-one patients were identified (56.8% males, age 61.8 ± 11.2 years). ... Read more >>

Sleep (Sleep)
[2020, :]

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Alpha-synuclein seeds in olfactory mucosa of patients with isolated rapid-eye-movement sleep behaviour disorder

Ambra Stefani, Alex Iranzo, Evi Holzknecht, Daniela Perra, Matilde Bongianni, Carles Gaig, Beatrice Heim, Monica Serradell, Luca Sacchetto, Alicia Garrido, Stefano Capaldi, Almudena Sánchez-Gómez, Michele Fiorini, Joachim Schmutzhard, Pietro Cocchiara, Isabel Vilaseca, Lorenzo Brozzetti, Salvatore Monaco, Jose Marti, Klaus Seppi, Eduardo Tolosa, Joan Santamaria, Birgit Högl, Werner Poewe, Gianluigi Zanusso, ,

<h4>ABSTRACT</h4> Isolated REM sleep behaviour disorder is an early-stage α-synucleinopathy in most, if not all, affected subjects. Detection of pathological alpha-synuclein in peripheral tissues of isolated REM sleep behaviour disorder patients may identify those progressing to Parkinson’s disease, dementia with Lewy bodies or multiple system atrophy, with the ultimate goal ... Read more >>

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Prodromal Parkinson disease in patients with idiopathic hyposmia.

Paula Marrero-González, Alex Iranzo, David Bedoya, Mònica Serradell, Aida Niñerola-Baizán, Andrés Perissinotti, Carles Gaig, Isabel Vilaseca, Isam Alobid, Joan Santamaría, Joaquim Mullol,

<h4>Background</h4>Idiopathic hyposmia (IH) is a prodromal marker of Parkinson disease (PD). However, IH is common in the general population and only a minority will develop PD. Identification of individuals with IH at prodromal stage of PD would serve to select them to implement neuroprotective agents, when available.<h4>Objective</h4>To identify prodromal PD ... Read more >>

J Neurol (Journal of neurology)
[2020, 267(12):3673-3682]

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Imaging dopamine function and microglia in asymptomatic LRRK2 mutation carriers.

Morten Gersel Stokholm, Alicia Garrido, Eduardo Tolosa, Mónica Serradell, Alex Iranzo, Karen Østergaard, Per Borghammer, Arne Møller, Peter Parbo, Kristian Stær, David J Brooks, Maria José Martí, Nicola Pavese,

Neuroinflammation (microglial activation) and subclinical nigrostriatal dysfunction have been reported in subjects at risk of Parkinsonism. Eight non-manifesting carriers (NMCs) of LRRK2 G2019S mutation had <sup>11</sup>C-PK11195 and <sup>18</sup>F-DOPA PET to assess microglial activation and striatal dopamine system integrity, respectively. Comparisons were made with healthy controls. Five LRRK2-NMCs had subclinical reductions ... Read more >>

J Neurol (Journal of neurology)
[2020, 267(8):2296-2300]

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Left-hemispheric predominance of nigrostriatal deficit in isolated REM sleep behavior disorder.

Alex Iranzo, Ambra Stefani, Aida Niñerola-Baizan, Heike Stokner, Monica Serradell, Dolores Vilas, Evi Holzknecht, Carles Gaig, Javier Pavia, Francesc Lomeña, David Reyes, Klaus Seppi, Joan Santamaria, Birgit Högl, Eduard Tolosa, Werner Poewe, ,

OBJECTIVE:Unilateral onset of parkinsonism due to nigrostriatal damage of the contralateral hemisphere is frequent in Parkinson disease (PD). There is evidence for a left-hemispheric bias of motor asymmetry in right-handed patients with PD indicating a hemispheric dominance. Isolated REM sleep behavior disorder (IRBD) constitutes the prodromal stage of PD and ... Read more >>

Neurology (Neurology)
[2020, 94(15):e1605-e1613]

Cited: 3 times

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Lack of Asymmetry of Nigrostriatal Dopaminergic Function in Healthy Subjects.

Alicia Garrido, Alex Iranzo, Ambra Stefani, Mònica Serradell, Amaia Muñoz-Lopetegi, Paula Marrero, Birgit Högl, Carles Gaig, Joan Santamaria, Eduard Tolosa, Werner Poewe, ,

OBJECTIVE:In right-handed patients with Parkinson's disease (PD) or isolated rapid eye movement sleep behavior disorder, dopamine transporter (DAT) [(123)I]β-carboxymethyoxy-3-β-(4-iodophenyl) tropane single photon emission computed tomography (SPECT) shows predominant nigrostriatal deficit in the left striatum. This suggests that in PD patients, the nigrostriatal system of the dominant hemisphere is more susceptible ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2020, 35(6):1072-1076]

Cited: 1 time

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Isolated rapid eye movement sleep behavior disorder and cyclic alternating pattern: is sleep microstructure a predictive parameter of neurodegeneration?

Andrea Melpignano, Liborio Parrino, Joan Santamaria, Carles Gaig, Irene Trippi, Monica Serradell, Carlotta Mutti, Matteo Riccò, Alex Iranzo,

<h4>Objective</h4>To evaluate the role of sleep cyclic alternating pattern (CAP) in patients with isolated REM sleep behavior disorder (IRBD) and ascertain whether CAP metrics might represent a marker of phenoconversion to a defined neurodegenerative condition.<h4>Methods</h4>Sixty-seven IRBD patients were included and classified into patients who phenoconverted to a neurodegenerative disease (RBD ... Read more >>

Sleep (Sleep)
[2019, 42(10):]

Cited: 1 time

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Cortical Gray Matter and Hippocampal Atrophy in Idiopathic Rapid Eye Movement Sleep Behavior Disorder.

Anna Campabadal, Barbara Segura, Carme Junque, Monica Serradell, Alexandra Abos, Carme Uribe, Hugo C Baggio, Carles Gaig, Joan Santamaria, Yaroslau Compta, Nuria Bargallo, Alex Iranzo,

<b>Objective:</b> In this study we investigate cortical and subcortical gray matter structure in patients with Idiopathic REM-sleep behavior disorder (IRBD), and their relation to cognitive performance. <b>Methods:</b> This study includes a sample of 20 patients with polysomnography-confirmed IRBD and 27 healthy controls that underwent neuropsychological and T1-weighted MRI assessment. FreeSurfer ... Read more >>

Front Neurol (Frontiers in neurology)
[2019, 10:312]

Cited: 1 time

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α-Synuclein aggregates in labial salivary glands of idiopathic rapid eye movement sleep behavior disorder.

Alex Iranzo, Sergi Borrego, Isabel Vilaseca, Carles Martí, Mónica Serradell, Raquel Sánchez-Valle, Gabor G Kovacs, Francesc Valldeoriola, Carles Gaig, Joan Santamaria, Eduard Tolosa, Ellen Gelpi,

Study Objectives:To assess whether biopsy of the labial minor salivary glands safely detects phosphorylated α-synuclein (pAS) deposits in idiopathic rapid eye movement sleep behavior disorder (IRBD), a condition that precedes the cardinal manifestations of synuclein disorders associated with Lewy-type pathology, namely, Parkinson's disease (PD) and dementia with Lewy bodies (DLB). ... Read more >>

Sleep (Sleep)
[2018, 41(8):]

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Alpha-synuclein aggregates in the parotid gland of idiopathic REM sleep behavior disorder.

Ana Fernández-Arcos, Isabel Vilaseca, Iban Aldecoa, Mónica Serradell, Eduard Tolosa, Joan Santamaría, Ellen Gelpi, Alex Iranzo,

<h4>Background</h4>The neuropathological hallmark of Parkinson's disease (PD) is the presence of aggregates of phosphorylated alpha-synuclein (pAS) in the nervous system.<h4>Method</h4>We report a patient with video-polysomnography-confirmed idiopathic REM sleep behavior disorder that underwent parotidectomy because of parotid gland cancer. Immunohistochemistry of the gland tissue revealed abundant pAS deposits. One year after ... Read more >>

Sleep Med (Sleep medicine)
[2018, 52:14-17]

Cited: 1 time

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Glucocerebrosidase gene variants are accumulated in idiopathic REM sleep behavior disorder.

Ana Gámez-Valero, Alex Iranzo, Monica Serradell, Dolores Vilas, Joan Santamaria, Carles Gaig, Ramiro Álvarez, Aurelio Ariza, Eduardo Tolosa, Katrin Beyer,

<h4>Introduction</h4>Glucocerebrosidase (GBA) gene variants are associated with the development of the Lewy body disorders (LBD) Parkinson disease (PD) and dementia with Lewy bodies (DLB). Idiopathic REM sleep behavior disorder (IRBD) represents prodromal LBD in most instances. We investigated whether GBA variants are overrepresented in IRBD and if their presence shortens ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2018, 50:94-98]

Cited: 5 times

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Extrastriatal monoaminergic dysfunction and enhanced microglial activation in idiopathic rapid eye movement sleep behaviour disorder.

Morten Gersel Stokholm, Alex Iranzo, Karen Østergaard, Mónica Serradell, Marit Otto, Kristina Bacher Svendsen, Alicia Garrido, Dolores Vilas, Peter Parbo, Per Borghammer, Joan Santamaria, Arne Møller, Carles Gaig, David J Brooks, Eduardo Tolosa, Nicola Pavese,

BACKGROUND:The majority of patients diagnosed with idiopathic rapid eye movement sleep behaviour disorder (iRBD) progress over time to a Lewy-type α-synucleinopathy such as Parkinson's disease or dementia with Lewy bodies. This in vivo molecular imaging study aimed to investigate if extrastriatal monoaminergic systems are affected in iRBD patients and if ... Read more >>

Neurobiol Dis (Neurobiology of disease)
[2018, 115:9-16]

Cited: 5 times

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Excessive Daytime Sleepiness Does Not Predict Neurodegeneration in Idiopathic REM Sleep Behavior Disorder.

Alex Iranzo, Monica Serradell, Joan Santamaria,

Sleep (Sleep)
[2017, 40(12):]

Cited: 1 time

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Caveats of Neurodegenerative Risk Stratification in Idiopathic REM Sleep Behavior Disorder by Use of the MDS Research for Prodromal Parkinson's Disease.

Philipp Mahlknecht, Alex Iranzo, Ambra Stefani, Monica Serradell, Joan Santamaria, Eduardo Tolosa, Birgit Högl, Werner Poewe,

Sleep (Sleep)
[2017, 40(10):]

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Dopamine transporter imaging deficit predicts early transition to synucleinopathy in idiopathic rapid eye movement sleep behavior disorder.

Alex Iranzo, Joan Santamaría, Francesc Valldeoriola, Monica Serradell, Manel Salamero, Carles Gaig, Aida Niñerola-Baizán, Raquel Sánchez-Valle, Albert Lladó, Roberto De Marzi, Ambra Stefani, Klaus Seppi, Javier Pavia, Birgit Högl, Werner Poewe, Eduard Tolosa, Francisco Lomeña,

<h4>Objective</h4>To determine the usefulness of dopamine transporter (DAT) imaging to identify idiopathic rapid eye movement sleep behavior disorder (IRBD) patients at risk for short-term development of clinically defined synucleinopathy.<h4>Methods</h4>Eighty-seven patients with polysomnography-confirmed IRBD underwent <sup>123</sup> I-FP-CIT DAT-SPECT. Results were compared to 20 matched controls without RBD who underwent DAT-SPECT. In ... Read more >>

Ann Neurol (Annals of neurology)
[2017, 82(3):419-428]

Cited: 28 times

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Assessment of neuroinflammation in patients with idiopathic rapid-eye-movement sleep behaviour disorder: a case-control study.

Morten Gersel Stokholm, Alex Iranzo, Karen Østergaard, Mónica Serradell, Marit Otto, Kristina Bacher Svendsen, Alicia Garrido, Dolores Vilas, Per Borghammer, Joan Santamaria, Arne Møller, Carles Gaig, David J Brooks, Eduardo Tolosa, Nicola Pavese,

<h4>Background</h4>Findings from longitudinal follow-up studies in patients with idiopathic rapid-eye-movement sleep behaviour disorder (IRBD) have shown that most patients will eventually develop the synucleinopathies Parkinson's disease, dementia with Lewy bodies, or multiple system atrophy. Neuroinflammation in the form of microglial activation is present in synucleinopathies and is a potential therapeutic ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2017, 16(10):789-796]

Cited: 28 times

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Characterization of patients with longstanding idiopathic REM sleep behavior disorder.

Alex Iranzo, Ambra Stefani, Monica Serradell, Maria Jose Martí, Francisco Lomeña, Philipp Mahlknecht, Heike Stockner, Carles Gaig, Ana Fernández-Arcos, Werner Poewe, Eduard Tolosa, Birgit Högl, Joan Santamaria, ,

<h4>Objective</h4>To evaluate the presence of prodromal markers of Parkinson disease (PD) in patients with longstanding idiopathic REM sleep behavior disorder (IRBD), a small subgroup of individuals with IRBD with long-term follow-up thought not to be at risk of developing PD.<h4>Methods</h4>Demographic, clinical, and neuroimaging markers of PD were evaluated in 20 ... Read more >>

Neurology (Neurology)
[2017, 89(3):242-248]

Cited: 19 times

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Diagnostic Value of Isolated Mentalis Versus Mentalis Plus Upper Limb Electromyography in Idiopathic REM Sleep Behavior Disorder Patients Eventually Developing a Neurodegenerative Syndrome.

Ana Fernández-Arcos, Alex Iranzo, Mónica Serradell, Carles Gaig, Marc Guaita, Manel Salamero, Joan Santamaria,

<h4>Study objectives</h4>To compare two electromyographic (EMG) montages, isolated mentalis muscle versus mentalis in combination with upper limb muscles in the baseline diagnostic video-polysomnography (V-PSG) of patients with idiopathic REM sleep behaviors disorder (IRBD) who eventually were diagnosed with a clinically defined neurodegenerative syndrome.<h4>Methods</h4>Forty-nine patients were included. At baseline, diagnosis of ... Read more >>

Sleep (Sleep)
[2017, 40(4):]

Cited: 4 times

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MAPT association with REM sleep behavior disorder.

Rubén Fernández-Santiago, Alex Iranzo, Carles Gaig, Mónica Serradell, Manel Fernández, Pau Pastor, Eduardo Tolosa, Joan Santamaría, Mario Ezquerra,

Neurol Genet (Neurology. Genetics)
[2017, 3(1):e131]

Cited: 5 times

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One-Year Reference Norms of Cognitive Change in Spanish Old Adults: Data from the NEURONORMA Sample.

Gonzalo Sánchez-Benavides, Jordi Peña-Casanova, Marta Casals-Coll, Nina Gramunt, Rosa Maria Manero, Albert Puig-Pijoan, Miguel Aguilar, Alfredo Robles, Carmen Antúnez, Anna Frank-García, Manuel Fernández-Martínez, Rafael Blesa, ,

<h4>Objective</h4>Serial cognitive assessments are useful for many purposes, such as monitoring cognitive decline or evaluating the result of an intervention. In order to determine if an observed change is reliable and meaningful, longitudinal reference data from non-clinical samples are needed. Since neuropsychological outcomes are affected by language and cultural background, ... Read more >>

Arch Clin Neuropsychol (Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists)
[2016, 31(4):378-388]

Cited: 4 times

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Assessment of α-synuclein in submandibular glands of patients with idiopathic rapid-eye-movement sleep behaviour disorder: a case-control study.

Dolores Vilas, Alex Iranzo, Eduardo Tolosa, Iban Aldecoa, Joan Berenguer, Isabel Vilaseca, Carles Martí, Mónica Serradell, Francisco Lomeña, Llucia Alós, Carles Gaig, Joan Santamaria, Ellen Gelpi,

<h4>Background</h4>The histological feature of Parkinson's disease is the presence of intraneuronal aggregates of phosphorylated α-synuclein (αSyn). In patients with Parkinson's disease, deposits of αSyn are found in the autonomic nerve fibres of the submandibular gland. Since patients with idiopathic rapid-eye-movement sleep behaviour disorder (IRBD) can develop Parkinson's disease and other ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2016, 15(7):708-718]

Cited: 46 times

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