Publications by authors named "Cèlia Painous"

10 Publications

  • Page 1 of 1

Characterization of sleep in six patients with pantothenate kinase-associated neurodegeneration.

Sleep Med 2021 08 27;84:389-396. Epub 2021 Jun 27.

Parkinson's Disease and Movement Disorders Unit, Neurology Department, Hospital Clínic de Barcelona, Barcelona, Catalonia, Spain; Institut D'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Catalonia, Spain; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED: CB06/05/0018-ISCIII), Barcelona, Catalonia, Spain; European Reference Network for Rare Neurological Diseases - Project ID No 739510, Spain. Electronic address:

Background: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurologic disorder included in the group of neurodegeneration with brain iron accumulation diseases (NBIA). Information regarding sleep in patients with PKAN is limited.

Objectives: To describe the clinical and polysomnographic characteristics of sleep in six patients with genetically confirmed PKAN.

Methods: The evaluation included a clinical interview, sleep questionnaires -Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI) and Hospital Anxiety and Depression Scale (HADS)- and a video-polysomnography (VPSG). In addition to standard sleep measures we manually quantified sleep spindle density in stage N2 and rapid eye movements in REM sleep comparing the results with matched controls. Quantification of EMG activity in REM sleep was performed following standard criteria.

Results: All the patients reported at least one sleep complaint, most commonly sleep fragmentation (4/6) and sleep onset insomnia (3/6). ESS and PSQI were abnormal in 3/6 and 4/6, respectively. VPSG showed in 4/6 decreased ocular movements during REM sleep, an increase in sleep spindles in 3/6 (all of them with deep brain pallidal stimulation), an absence of slow wave sleep in 2 and undifferentiated NREM sleep and delayed sleep phase in one. Three patients had an abnormal sleep apnea/hypopnea index, and 2 periodic limb movements of sleep. REM sleep muscular atonia was preserved in all.

Conclusions: Sleep disorders are common in patients with PKAN. Although our sample is small and heterogeneous, with different symptomatic treatments possibly influencing the results, it suggests that evaluation of sleep should be considered in their management.
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http://dx.doi.org/10.1016/j.sleep.2021.06.019DOI Listing
August 2021

Effects of COVID -19 pandemic and lockdown on people with multiple system atrophy participating in a therapeutic education program.

Parkinsonism Relat Disord 2021 05 29;86:78-80. Epub 2021 Mar 29.

Parkinson's Disease & Movement Disorders Unit, Neurology Service, Clinical Institute of Neuroscience (ICN), Hospital Clínic de Barcelona / IDIBAPS / CIBERNED (CB06/05/0018-ISCIII) / European Reference Network for Rare Neurological Diseases (ERN-RND), Institut de Neurociències de la Universitat de Barcelona (Maria de Maeztu's Excellence Center), Catalonia, Spain.

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http://dx.doi.org/10.1016/j.parkreldis.2021.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8007182PMC
May 2021

Association of PSP phenotypes with survival: A brain-bank study.

Parkinsonism Relat Disord 2021 03 2;84:77-81. Epub 2021 Feb 2.

Parkinson's Disease and Movement Disorders Unit, Neurology Service, IDIBAPS, CIBERNED (Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas: CB06/05/0018-ISCIII), ERN-RND Hospital Clínic de Barcelona, Barcelona, Catalonia, Spain; Department of Medicine & Institut de Neurociències (Maria de Maeztu excellence center) of the University of Barcelona, Catalonia, Spain. Electronic address:

Introduction: The MDS-PSP criteria expand the phenotypic spectrum of PSP by adding to Richardson's syndrome (PSP-RS) other presentations such as PSP-parkinsonism (PSP-P), PSP-pure-gait-freezing (PSP-PGF), PSP-speech-language (PSP-SL), PSP-frontal (PSP-F), PSP-postural-instability (PSP-PI) and PSP-corticobasal-syndrome (PSP-CBS). Evidence about the prognostic differences between PSP phenotypes is scarce and focused on PSP-RS vs. non-PSP-RS. Using a brain-bank cohort we assessed PSP survival not only in PSP-RS vs. non-PSP-RS, but also in PSP-RS + cortical vs. subcortical phenotypes. Besides, we assessed sensitivity and specificity of the MDS-PSP criteria in of PSP and other degenerative parkinsonisms.

Methods: We retrospectively applied the MDS-PSP diagnostic criteria to 32 definite PSP cases and 30 cases with other degenerative parkinsonian syndromes (Parkinson's disease [PD; n = 11], multiple system atrophy [MSA; n = 11], corticobasal degeneration [CBD; n = 8]). We conducted survival statistics in neuropathologically confirmed PSP cases considering PSP-RS vs. non-PSP-RS and PSP-RS + PSP-cortical (PSP-F + PSP-SL + PSP-CBS) vs. PSP-subcortical (PSP-P + PSP-PGF) phenotypes. We also adjusted survival analyses for PSP tau scores.

Results: Diagnostic sensitivity was 100% and specificity ranged from 47% to 87% when excluding cases that met the "suggestive of PSP" definition early in their disease course but with other clinical features better matching with a non-PSP pathological diagnosis. Survival was significantly shorter in PSP-RS vs. non-PSP-RS cases, but it was more markedly shorter in PSP-RS + PSP-cortical vs. PSP-subcortical, independently of PSP tau scores, which were not associated with survival.

Conclusions: PSP-subcortical phenotypes appear to have longer survival than PSP-RS and cortical phenotypes. This might be of prognostic relevance when informing patients upon clinical diagnosis.
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http://dx.doi.org/10.1016/j.parkreldis.2021.01.015DOI Listing
March 2021

Video-tutorial for the Movement Disorder Society criteria for progressive supranuclear palsy.

Parkinsonism Relat Disord 2020 09 22;78:200-203. Epub 2020 Sep 22.

Department of Neurology, Technische Universität München, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Department of Neurology, Hannover Medical School, Hannover, Germany. Electronic address:

Background: The International Parkinson and Movement Disorder Society-endorsed Progressive Supranuclear Palsy Study Group published clinical diagnostic criteria for progressive supranuclear palsy in 2017, aiming to optimize early, sensitive and specific diagnosis.

Objective: To assist physicians in the application of these criteria, we developed a video-based tutorial in which all core clinical features and clinical clues are depicted and explained.

Methods: Patients provided written informed consent to the publication of their videos. High-quality videos along with essential descriptions were collected by the study group members. Most educational videos were selected in a structured consensus process.

Results: We provide 68 videos of all core clinical features and clinical clues defined by the diagnostic criteria, along with instructive descriptions of the depicted patients, examination techniques and clinical findings.

Conclusions: This comprehensive video-based tutorial will support physicians in the application of the diagnostic criteria of progressive supranuclear palsy.
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http://dx.doi.org/10.1016/j.parkreldis.2020.06.030DOI Listing
September 2020

Prediagnostic motor and non-motor symptoms in progressive supranuclear palsy: The step-back PSP study.

Parkinsonism Relat Disord 2020 05 13;74:67-73. Epub 2020 Mar 13.

Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Parkinson's Disease and Other Degenerative Movement Disorders Team, European Reference Network for Rare Neurological Diseases (ERN-RND), IDIBAPS, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED:CB06/05/0018-ISCIII), Institut Clínic de Neurociències (Maria de Maeztu Center), Universitat de Barcelona, Barcelona, Catalonia, Spain. Electronic address:

Background: Improved knowledge of the prediagnostic phase of progressive supranuclear palsy (PSP) might provide information on when and how the disease starts, along with the opportunity to test therapies in disease stages with lesser neurodegeneration.

Objective: To explore the symptoms in years preceding the PSP diagnosis.

Methods: This is a single-center retrospective case-control study based on clinical charts review and a structured interview to PSP patients and their caregivers. Prediagnostic symptoms were defined as those present more than one year before the diagnosis. We explored 35 symptoms in the following domains: visual, dizziness, motor, mood/apathy, cognitive, behavioral, sleep, gastrointestinal/urinary and miscellaneous. Non-parametric statistics were applied, with significance set at <0.05 (FDR-corrected).

Results: We included 150 subjects: 50 PSP patients (38% females, age 75.8) and an age- and sex-matched control group of 50 Parkinson's disease (PD) and 50 subjects (CS) without neurodegenerative disease. The frequencies of visual, motor, cognitive, behaviour and dizziness domains were significantly higher in PSP vs. PD, and so were the motor, mood/apathy, cognitive, behaviour and dizziness ones in PSP vs. CS. Over 50% of prediagnostic falls, apathy and anxiety, depression and memory-attention-executive symptoms, and over 30% of gait disturbances started more than three and up to ten years before the diagnosis. PSP patients had more consultations to ENT and ophthalmologists than PD patients.

Conclusion: PSP patients present a broad variety of motor and non-motor symptoms several years before the diagnosis. The definition of a prediagnostic PSP phase might be helpful to identify patients in early disease stages.
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http://dx.doi.org/10.1016/j.parkreldis.2020.03.003DOI Listing
May 2020

Is serotonin pathology a good biomarker for early Parkinson's disease?

Ann Transl Med 2019 Dec;7(Suppl 8):S351

Parkinson's Disease & Movement Disorders Unit, Hospital Clínic Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.21037/atm.2019.09.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976432PMC
December 2019

Cerebrospinal fluid cytokines in multiple system atrophy: A cross-sectional Catalan MSA registry study.

Parkinsonism Relat Disord 2019 08 3;65:3-12. Epub 2019 Jun 3.

Parkinson's Disease & Movement Disorders Unit, Hospital Clínic / IDIBAPS / CIBERNED / European Reference Network for Rare Neurological Diseases (ERN-RND / Institut de Neurociències, Universitat de Barcelona, Catalonia, Spain. Electronic address:

Introduction: Neuroinflammation is a potential player in neurodegenerative conditions, particularly the aggressive ones, such as multiple system atrophy (MSA). Previous reports on cytokine levels in MSA using serum or cerebrospinal fluid (CSF) have been inconsistent, including small samples and a limited number of cytokines, often without comparison to Parkinson's disease (PD), a main MSA differential diagnosis.

Methods: Cross-sectional study of CSF levels of 38 cytokines using a multiplex assay in 73 participants: 39 MSA patients (19 with parkinsonian type [MSAp], 20 with cerebellar type [MSAc]; 31 probable, 8 possible), 19 PD patients and 15 neurologically unimpaired controls. None of the participants was under non-steroidal anti-inflammatory drugs at the time of the lumbar puncture.

Results: There were not significant differences in sex and age among participants. In global non-parametric comparisons FDR-corrected for multiple comparisons, CSF levels of 5 cytokines (FGF-2, IL-10, MCP-3, IL-12p40, MDC) differed among the three groups. In pair-wise FDR-corrected non-parametric comparisons 12 cytokines (FGF-2, eotaxin, fractalkine, IFN-α2, IL-10, MCP-3, IL-12p40, MDC, IL-17, IL-7, MIP-1β, TNF-α) were significantly higher in MSA vs. non-MSA cases (PD + controls pooled together). Of these, MCP-3 and MDC were the most significant ones, also differed in MSA vs. PD, and were significant MSA-predictors in binary logistic regression models and ROC curves adjusted for age. CSF levels of fractalkine and MIP-1α showed a strong and significant positive correlation with UMSARS-2 scores.

Conclusion: Increased CSF levels of cytokines such as MCP-3, MDC, fractalkine and MIP-1α deserve consideration as potential diagnostic or severity biomarkers of MSA.
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http://dx.doi.org/10.1016/j.parkreldis.2019.05.040DOI Listing
August 2019

Non-motor symptoms in Huntington's disease: a comparative study with Parkinson's disease.

J Neurol 2019 Jun 5;266(6):1340-1350. Epub 2019 Mar 5.

Parkinson's Disease and Movement Disorders Unit, Department of Neurology, Hospital Clinic of Barcelona, Villarroel 170, 08036, Barcelona, Catalonia, Spain.

Background/aims: The presence of non-motor symptoms in Huntington's disease (HD) has not been systematically assessed so far. Our objective was to know their prevalence and to compare it with a cohort of patients with Parkinson's disease (PD).

Materials And Methods: Participants were consecutively recruited from our outpatient clinic. They were assessed through the motor part of the Unified Huntington's Disease Rating Scale, the motor part of the Unified Parkinson's Disease Rating Scale, the total functional capacity scale and the PD non-motor symptoms questionnaire.

Results: We enrolled 123 participants: 53 HD, 45 PD and 25 healthy controls (HC). Non-motor symptoms were significantly more prevalent in HD patients than in HC. The most frequent non-motor symptoms in HD, involving more than 50% of patients, were attentional deficits, apathy, dysphagia, memory complaints, depression falls, insomnia and urinary urgency. The total score of non-motor symptoms correlated with disease duration, total functional capacity and disease stage. HD scored significantly higher than PD in 11 items (dysphagia, constipation, bowel incontinence, faecal tenesmus, weight loss, memory, apathy, attention, falls, nightmares, delusions) and in four domains (cognitive, hallucinations and delusions, digestive and cardiovascular). PD did not score significantly higher than HD in any domain.

Conclusions: HD patients have a high prevalence of non-motor symptoms, which is even higher than in PD, and correlates with disease progression.
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http://dx.doi.org/10.1007/s00415-019-09263-7DOI Listing
June 2019

Unilateral pallidal stimulation for disabling dystonia due to Rasmussen's disease.

J Neurol Neurosurg Psychiatry 2019 01 9;90(1):108-110. Epub 2018 Jul 9.

Functional Neurosurgery Unit, Department of Neurosurgery,  Hospital Clínic, Barcelona, Spain.

Objective: To describe an adult patient with Rasmussen's disease with focal dystonia as the most disabling symptom and the good response to unilateral globus pallidus internus (GPi) deep brain stimulation (DBS).

Methods: Retrospective review of clinical records and diagnostic tests.

Results: The patient had displayedmild focal seizures with sensory and motor symptoms on the left arm and hemiface since the age of 22. Ten years later she experienced abrupt onset of focal left dystonia involving mainly the leg. Brain MRI showed progressive right hemisphere atrophy, and   fluorodeoxyglucose-positron emission tomography (FDG-PET) showed right hypometabolism mainly over the frontal and insular regions. Brain biopsy confirmed chronic encephalitis. The dystonia became very severe and made walking extremely difficult. Different treatments including dopaminergic, anticholinergic, immunomodulatory drugs and botulinum toxin were ineffective. Finally the patient was treated with unilateral GPi DBS. Shortly after the onset of the stimulation, the dystonia started to improve. Parameters have been adjusted, and 18 months after surgery the patient is able to walk and run unaided, although a mild left leg dystonia persists.

Conclusion: Rasmussen's disease may be difficult to diagnose in adult patients. Associated movement disorders may be more disabling than seizures. Focal dystonia may be treated successfully with DBS.
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http://dx.doi.org/10.1136/jnnp-2018-318029DOI Listing
January 2019

Head and voice tremor improving with immunotherapy in an anti-NF155 positive CIDP patient.

Ann Clin Transl Neurol 2018 Apr 7;5(4):499-501. Epub 2018 Mar 7.

Neuromuscular Diseases Unit Department of Neurology Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain.

Chronic inflammatory demyelinating polyradiculoneuropathy with NF155 antibodies (anti-NF155+) constitutes a specific chronic inflammatory demyelinating polyradiculoneuropathy subset with a high incidence of limb's tremor and poor response to conventional therapies. We report a patient with chronic inflammatory demyelinating polyradiculoneuropathy anti-NF155+ with a severe tremor involving limbs, head and voice that responded very well to rituximab. This response correlated with a sharp decrease in the anti-NF155 titers. This case is the first report associating head and voice tremor to chronic inflammatory demyelinating polyradiculoneuropathy, reinforces the hypothesis of the cerebellar origin of this tremor and provides indirect evidence that the antibodies may be the cause of the tremor in these patients.
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http://dx.doi.org/10.1002/acn3.539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5899910PMC
April 2018
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