Publications by authors named "Lluís Planellas"

8 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

Predictors of Global Non-Motor Symptoms Burden Progression in Parkinson's Disease. Results from the COPPADIS Cohort at 2-Year Follow-Up.

J Pers Med 2021 Jun 30;11(7). Epub 2021 Jun 30.

Hospital de Tortosa Verge de la Cinta (HTVC), 43500 Tarragona, Spain.

Non-motor symptoms (NMS) progress in different ways between Parkinson's disease (PD) patients. The aim of the present study was to (1) analyze the change in global NMS burden in a PD cohort after a 2-year follow-up, (2) to compare the changes with a control group, and (3) to identify predictors of global NMS burden progression in the PD group. PD patients and controls, recruited from 35 centers of Spain from the COPPADIS cohort from January 2016 to November 2017, were followed-up with after 2 years. The Non-Motor Symptoms Scale (NMSS) was administered at baseline (V0) and at 24 months ± 1 month (V2). Linear regression models were used for determining predictive factors of global NMS burden progression (NMSS total score change from V0 to V2 as dependent variable). After the 2-year follow-up, the mean NMS burden (NMSS total score) significantly increased in PD patients by 18.8% (from 45.08 ± 37.62 to 53.55 ± 42.28; < 0.0001; N = 501; 60.2% males, mean age 62.59 ± 8.91) compared to no change observed in controls (from 14.74 ± 18.72 to 14.65 ± 21.82; = 0.428; N = 122; 49.5% males, mean age 60.99 ± 8.32) ( < 0.0001). NMSS total score at baseline (β = -0.52), change from V0 to V2 in PDSS (Parkinson's Disease Sleep Scale) (β = -0.34), and change from V0 to V2 in NPI (Neuropsychiatric Inventory) (β = 0.25) provided the highest contributions to the model (adjusted R-squared 0.41; Durbin-Watson test = 1.865). Global NMS burden demonstrates short-term progression in PD patients but not in controls and identifies worsening sleep problems and neuropsychiatric symptoms as significant independent predictors of this NMS progression.
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http://dx.doi.org/10.3390/jpm11070626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8305732PMC
June 2021

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.

Mov Disord 2021 06 16;36(6):1342-1352. Epub 2020 Nov 16.

Research and Development, Retrophin, Inc., San Diego, California, USA.

Background: Pantothenate kinase-associated neurodegeneration (PKAN) currently has no approved treatments.

Objectives: The Fosmetpantotenate Replacement Therapy pivotal trial examined whether treatment with fosmetpantotenate improves PKAN symptoms and stabilizes disease progression.

Methods: This randomized, double-blind, placebo-controlled, multicenter study evaluated fosmetpantotenate, 300 mg oral dose three times daily, versus placebo over a 24-week double-blind period. Patients with pathogenic variants of PANK2, aged 6 to 65 years, with a score ≥6 on the PKAN-Activities of Daily Living (PKAN-ADL) scale were enrolled. Patients were randomized to active (fosmetpantotenate) or placebo treatment, stratified by weight and age. The primary efficacy endpoint was change from baseline at week 24 in PKAN-ADL.

Results: Between July 23, 2017, and December 18, 2018, 84 patients were randomized (fosmetpantotenate: n = 41; placebo: n = 43); all 84 patients were included in the analyses. Six patients in the placebo group discontinued treatment; two had worsening dystonia, two had poor compliance, and two died of PKAN-related complications (aspiration during feeding and disease progression with respiratory failure, respectively). Fosmetpantotenate and placebo group PKAN-ADL mean (standard deviation) scores were 28.2 (11.4) and 27.4 (11.5) at baseline, respectively, and were 26.9 (12.5) and 24.5 (11.8) at week 24, respectively. The difference in least square mean (95% confidence interval) at week 24 between fosmetpantotenate and placebo was -0.09 (-1.69 to 1.51; P = 0.9115). The overall incidence of treatment-emergent serious adverse events was similar in the fosmetpantotenate (8/41; 19.5%) and placebo (6/43; 14.0%) groups.

Conclusions: Treatment with fosmetpantotenate was safe but did not improve function assessed by the PKAN-ADL in patients with PKAN. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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http://dx.doi.org/10.1002/mds.28392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8246547PMC
June 2021

Mood in Parkinson's disease: From early- to late-stage disease.

Int J Geriatr Psychiatry 2021 05 20;36(5):627-646. Epub 2020 Nov 20.

Hospital Universitario de Canarias, San Cristóbal de la Laguna, Santa Cruz de Tenerife, Spain.

Background: Although depression is known to be frequent in Parkinson's disease (PD), it is unclear how mood can change and/or impact on patient's quality of life (QoL) over time. Our aim was to analyze the frequency of depression, mood related factors and the contribution of mood to a patient's QoL perception in regard to disease duration.

Methods: PD patients recruited from the COPPADIS cohort from January 2016 to November 2017 were included in this cross-sectional study. Three groups were defined: <5 years (Group A); from 5 to <10 years (Group B); ≥10 years (Group C). Analysis with well-planned linear regression models was conducted to determine how different factors contribute to mood (Beck Depression Inventory-II [BDI-II] as dependent variable), to health-related QoL (39-item Parkinson's Disease Questionnaire [PDQ-39SI] as dependent variable) and to global QoL (European Health Interview Survey - Quality of Life Eight-Item Index [EUROHIS-QOL8] as dependent variable).

Results: Six hundred and sixty-three PD patients (62.6 ± 8.9 years old, 59.6% males) were included: Group A, 50.1% (n = 332); Group B, 33.3% (n = 221) and Group C, 16.6% (n = 110). There were no differences between the three groups in terms of the frequency of depressive symptoms nor the frequency of depression type (major vs. minor vs. subthreshold) (p = 0.729). However, the unique percent variance of PDQ-39SI and EUROHIS-QOL8 explained by BDI-II total score was 2 (23.7%) and threefold (26.9%), respectively, in Group C compared to the other two groups. EUROHIS-QOL8 total score provided the highest unique contribution to mood (16.8%).

Conclusions: Although depression-type frequency does not appear to change over time in PD; the contribution of mood on QoL perception is greater in patients with longer disease duration.
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http://dx.doi.org/10.1002/gps.5461DOI Listing
May 2021

The impact of freezing of gait on functional dependency in Parkinson's disease with regard to motor phenotype.

Neurol Sci 2020 Oct 24;41(10):2883-2892. Epub 2020 Apr 24.

Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.

Background And Objective: Freezing of gait (FOG) is a disabling symptom more frequent in Parkinson's disease (PD) patients with postural instability gait difficulty (PIGD) phenotype. The aim of this study was to determine the prevalence of self-reported FOG in a large group of PD patients as well as assess its relationship with functional dependency with regard to motor phenotype.

Methods: The data correspond to the baseline evaluation of the COPPADIS-2015 study. Patients with FOG were identified as those with a score of 1 or greater on item-3 of the freezing of gait questionnaire (FOG-Q). Functional dependency was defined as a Schwab and England (S&E) ADL scale score less than 80%. PIGD and non-PIGD (tremor dominant + indeterminate) groups were considered regarding to motor phenotype.

Results: Among the 689 PD patients (62.6 ± 8.9 years old, 59.8% males), 240 reported FOG (34.8%), whereas 63 presented functional dependency (9.1%). A total of 22.1% of patients with FOG presented functional dependency vs. only 2.2% of those without FOG (p < 0.0001). FOG was related to functional dependency (OR = 3.470; 95%CI 1.411-8.530; p = 0.007) after adjustment to age, gender, disease duration, daily equivalent levodopa dose, comorbidity (number of non-antiparkinsonian drugs/day), motor status (UPDRS-III), PIGD phenotype, motor complications (UPDRS-IV), NMS burden (NMSS total score), cognition (PD-CRS), and mood (BDI-II). However, according to motor phenotype, FOG was related to functional dependency only in PIGD patients (OR = 7.163; 95%CI 1.206-42.564; p = 0.030).

Conclusions: Self-reported FOG is associated with functional dependency in PIGD but not in non-PIGD motor phenotype patients.
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http://dx.doi.org/10.1007/s10072-020-04404-7DOI Listing
October 2020

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

Regional Overlap of Pathologies in Lewy Body Disorders.

J Neuropathol Exp Neurol 2017 03;76(3):216-224

Neurological Tissue Bank, Biobanc Hospital Clínic-IDIBAPS, Barcelona, Spain.

Lewy body disorders (LBD) are common neurodegenerative diseases characterized by the presence of aggregated α-synuclein in Lewy bodies and Lewy neurites in the central and peripheral nervous systems. The brains of patients with LBD often display other comorbid pathologies, i.e. insoluble tau, β-amyloid aggregates, TAR DNA-binding protein 43 (TDP-43) deposits, and argyrophilic grain disease (AGD). The incidence and physiological relevance of these concurrent pathological findings remain controversial. We performed a semiquantitative detailed mapping of α-synuclein, tau, β-amyloid (Aβ), TDP-43, and AGD pathologies in 17 areas in 63 LBD cases (44 with Parkinson disease [PD], 28 with dementia, and 19 with dementia with Lewy bodies). APOE and MAPT genetic variants were also investigated. A majority of LBD cases had 2 or 3 concomitant findings, particularly Alzheimer disease-related pathology. Pathological stages of tau, β-amyloid and α-synuclein pathologies were increased in cases with dementia. Aβ score was the best correlate of the time to dementia in PD. In addition, β-amyloid deposition correlated with α-synuclein load in all groups. MAPT H1 haplotype did not influence any assessed pathology in PD. These results highlight the common concurrence of pathologies in patients with LBD that may have an impact on the clinical expression of the diseases.
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http://dx.doi.org/10.1093/jnen/nlx002DOI Listing
March 2017

CHA(2)DS(2)-VASc score and prognosis in ischemic strokes with atrial fibrillation.

J Neurol 2012 Apr 8;259(4):745-51. Epub 2011 Oct 8.

Neurology Department, Neurovascular Research Group, IMIM-Hospital del Mar, Universitat Autònoma de Barcelona, [corrected] Barcelona, Spain.

The CHA(2)DS(2)-VASc score was developed to improve stroke risk stratification in atrial fibrillation (AF) patients. We sought to analyze the distribution and prognostic value of the CHA(2)DS(2)-VASc score in a cohort of ischemic stroke patients with AF. In total, 439 consecutive stroke patients with AF were studied. The CHA(2)DS(2)-VASc score was calculated according to clinical status before stroke onset. Poor outcome was defined as a modified Rankin score of 3 to 6 at 3 months. Association between CHA(2)DS(2)-VASc score and poor outcome was analyzed using logistic regression analysis. In 95.6% of patients, CHA(2)DS(2)-VASc was >1 and only 41.8% of those with previously diagnosed AF were using oral anticoagulation at the time of the stroke. Poor outcome was found in 53.1% of the patients. In univariate analysis age, female sex, current smoking, previous stroke, CHA(2)DS(2)-VASc score, and stroke severity were associated with outcome. In multivariate analysis, CHA(2)DS(2)-VASc score was independently associated with poor outcome [OR 1.36 (95% CI: 1.14-1.62), P = 0.001] as well as NIHSS [OR 1.22 (95% CI: 1.17-1.26), P < 0.001]. After removing stroke severity, therapeutic anticoagulation was also associated with stroke prognosis [OR 0.45 (95% CI: 0.23-0.86), P = 0.016]. Most patients with ischemic stroke and AF have a high CHA(2)DS(2)-VASc score. Independent of stroke severity, CHA(2)DS(2)-VASc score is associated with 3-month outcome. Despite all the available information and guidelines, our AF patients are clearly undertreated.
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http://dx.doi.org/10.1007/s00415-011-6259-7DOI Listing
April 2012
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