Publications by authors named "André Caetano"

34 Publications

Characterization of a Portuguese family with Charcot-Marie-Tooth disease type 1E due to a novel point mutation in the PMP22 gene.

Clin Neurol Neurosurg 2021 Sep 21;208:106829. Epub 2021 Jul 21.

Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Rua da Junqueira 126, 1349-019 Lisbon, Portugal; CEDOC Chronic Diseases Research Centre, Nova Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.

Introduction: Point mutations in the Peripheral Myelin Protein 22 (PMP22) gene comprise less than 5% of the Charcot-Marie-Tooth (CMT) type 1 cases, and individualize either the CMT 1E subtype, or Hereditary Neuropathy with Liability to Pressure Palsy. The phenotype of CMT 1E presents with a severe early-onset polyneuropathy associated with deafness, although the clinical spectrum is broad.

Case Report: We describe a novel PMP22 gene point mutation (c.84G>T;p.(Trp28Cys)) in three patients of a Portuguese family with variable phenotypes, ranging from asymptomatic to mild complaints of distal limb numbness and gait difficulties, with the age of onset of symptoms ranging from mid-twenties to late-sixties, and no associated disability. In all affected patients, there was evidence of diffuse demyelinating sensorimotor polyneuropathy. Hearing loss does not seem to be associated with this variant, albeit neuropathic pain was reported.

Conclusions: These findings suggest that this particular point mutation in the PMP22 gene is associated with a mild phenotype, further emphasizing that there are still unknown mechanisms (genetic and/or epigenetic) that may play a role in the clinical spectrum of CMT1E patients. Next generation sequencing panels including commonly mutated genes in CMT should be considered in CMT1 cases negative for PMP22 gene duplication.
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http://dx.doi.org/10.1016/j.clineuro.2021.106829DOI Listing
September 2021

Secondary Trigeminal Neuralgia: Do Not Forget the Pontine Ischemic Infarction.

Eur Neurol 2021 1;84(5):391-392. Epub 2021 Jul 1.

Department of Neurology, Hospital Egas Moniz, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.

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http://dx.doi.org/10.1159/000517361DOI Listing
July 2021

Diagnosis of DOK7 congenital myasthenic syndrome during pregnancy: A case report and literature review.

Clin Neurol Neurosurg 2021 Apr 2;203:106591. Epub 2021 Mar 2.

Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Rua da Junqueira 126, 1349-019, Lisbon, Portugal; CEDOC Chronic Diseases Research Centre, Nova Medical School / Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.

Introduction: Pregnancy among patients with congenital myasthenic syndrome (CMS) is a rare occurrence. Since most of the patients with CMS reach adulthood, questions regarding clinical outcome with pregnancy arise.

Case Report: We describe a 38-year-old Portuguese female who presented in the second trimester of pregnancy with proximal fluctuating limb-girdle weakness, hyperlordosis, waddling gait, dysphagia, dysphonia and ptosis, with no ophthalmoparesis. Initial diagnosis of seronegative myasthenia, supported by neurophysiology findings, led to unsuccessful treatment with intravenous immunoglobulin, pyridostigmine, prednisolone and plasmapheresis, and the patient slowly progressed to a severe tetraparesis with facial and bulbar involvement. Genetic testing for CMS identified a novel compound heterozygous mutation (c.1124_1127dupTGCC and c.935_936del) in the DOK7 gene. Subsequent treatment with salbutamol resulted in substantial clinical benefit.

Conclusions: This case underlines the importance of considering the diagnosis of CMS in patients with fluctuating weakness during pregnancy. Patients of child-bearing potential diagnosed with CMS, particularly due to DOK7 mutations, should be counseled in advance and closely followed during pregnancy.
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http://dx.doi.org/10.1016/j.clineuro.2021.106591DOI Listing
April 2021

Double vision and facial palsy.

Pract Neurol 2021 Mar 3. Epub 2021 Mar 3.

Neurology, Hospital de Egas Moniz, Lisbon, Portugal.

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http://dx.doi.org/10.1136/practneurol-2020-002722DOI Listing
March 2021

Lower motor neuron signs as part of the clinical spectrum of Creutzfeldt-Jakob disease: A histopathological correlation.

Clin Neurol Neurosurg 2021 Mar 29;202:106535. Epub 2021 Jan 29.

Neurology Department, Hospital Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal; CEDOC - Nova Medical School, Universidade Nova de Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.clineuro.2021.106535DOI Listing
March 2021

Proximal Nerve Root Involvement in immunoglobulin M Anti-Myelin-Associated Glycoprotein Neuropathy Presenting as Cauda Equina Syndrome.

J Clin Neuromuscul Dis 2020 Dec;22(2):109-113

Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.

Typical distal symptoms in anti-myelin-associated glycoprotein (anti-MAG) neuropathy are believed to be due to the binding of immunoglobulin M to distal nerve terminals. We describe the case of a 56-year-old man diagnosed with immunoglobulin M anti-MAG neuropathy in the setting of Waldenström macroglobulinemia, which developed acute neurological worsening presenting as cauda equina syndrome. Lumbosacral magnetic resonance imaging revealed enlarged nerve roots with diffuse heterogeneous gadolinium enhancement. Treatment with steroids resulted in substantial clinical improvement. Increased recognition of atypical presentations may lead to improved characterization of anti-MAG neuropathy as a more widespread disease.
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http://dx.doi.org/10.1097/CND.0000000000000307DOI Listing
December 2020

Modulation of neuromuscular transmission using transcutaneous direct currents: An exploratory study.

Neurophysiol Clin 2020 Oct 22;50(5):315-320. Epub 2020 Oct 22.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences, Centro Hospitalar Universitário Lisboa-Norte, Hospital de Santa Maria, Lisbon, Portugal. Electronic address:

Objective: To assess the in vivo long-lasting effects on neuromuscular transmission using transcutaneous stimulation with anodal and cathodal direct currents applied over the end-plate region (epDCS).

Methods: An active DCS electrode was placed over the end-plate region of both abductor pollicis brevis and first dorsal interosseous muscles, with a reference electrode located on the forearm. Cathodal or anodal currents were applied (2.5mA during 15min). Repetitive nerve stimulation of the median and ulnar nerves at the wrist was performed before and after DCS: protocol A - 500 stimuli at 3Hz; protocol B - 30 stimuli at 30Hz. For both muscles, we measured changes in amplitude and area between the first and 4th compound muscle action potential (CMAP) and between the first and 500th CMAP (protocol A); and the change in amplitude and area between the first and 30th CMAP (protocol B).

Results: Anodal current did not change any measurement. Using cathodal epDCS and median nerve testing, there was a larger increase in CMAP amplitude (p=0.046) and a smaller decrease in area (p=0.008) between the first and 30th response (protocol B). Using cathodal epDCS and ulnar nerve testing, there was a possible significant smaller amplitude decrease of the CMAP measured, between the first and fourth response (protocol A).

Conclusions: Cathodal transcutaneous direct currents over the end-plate may modulate end-plate function by increasing the release of quanta of acetylcholine (Ach) and/or the number of Ach receptors available. Future studies should address this topic.
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http://dx.doi.org/10.1016/j.neucli.2020.10.002DOI Listing
October 2020

Motor excitability measurements in early stage familial amyloid polyneuropathy: The influence of tafamidis treatment.

Neurophysiol Clin 2020 Jul 4;50(3):145-153. Epub 2020 Jun 4.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences, Centro Hospitalar Universário Lisboa-Norte, Hospital de Santa Maria, Lisbon, Portugal. Electronic address:

Objective: To test motor fiber excitability in early affected patients with transthyretin (TTR)-type familial amyloid polyneuropathy (TTR-FAP) before and during tafamidis treatment.

Methods: We examined the left median nerve of 21 healthy-matched controls and 10 early affected TTR-FAP patients using the automated threshold-tracking program, QTRAC. TTR-FAP patients were tested one day before the initiation of tafamidis treatment, 3 and 6 months later.

Results: The drug was well-tolerated in all patients; there was no drop-out. No statistical difference was found between healthy controls and TTR-FAP patients at study entry. On treatment, both stimulus intensity for 50% of the maximal motor response and rheobase increased significantly from entry to the last evaluation at 6 months (P<0.05). Strength duration time constant decreased significantly from the 3rd to the 6th month of evaluation (P<0.05). There was also a "fanning-out" effect on the late depolarization phase (TEd 90-100ms) as well as a shortened relative refractory period from study entry to the 6th month of evaluation.

Conclusions: Threshold-tracking of median nerve motor fibers is not a helpful technique for the early diagnosis of TTR-FAP patients. Tafamidis was well-tolerated. We observed possible membrane hyperpolarization during treatment. Threshold tracking can contribute to documenting the action of new drugs to treat neuropathies. Tafamidis may change nerve electrical properties by reducing the burden of amyloid fibrils.
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http://dx.doi.org/10.1016/j.neucli.2020.04.003DOI Listing
July 2020

Vascular White Matter Lesions in Young Adults: A Neurology Outpatient Clinic Registry.

Eur Neurol 2019 21;82(1-3):23-31. Epub 2019 Nov 21.

Department of Neuroradiology, Hospital Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal.

Introduction: Although frequently assumed to be age-related changes, vascular white matter lesions (WML) are sometimes found in young adults. Etiology is usually attributed to sporadic small vessel disease; nevertheless, genetic disorders may also be implicated. We aimed to characterize the population of young adults with vascular WML in Neurology outpatient clinics.

Methods: Neurologists from 12 Portuguese hospitals were invited to include patients aged 18-55 years evaluated in consultation, with vascular WML on MRI, scoring II or III in the Fazekas scale. Central imaging validation was performed by 2 independent, blinded, Neuroradiologists. Demographic and clinical data were collected as well as results of investigations performed.

Results: During 2 years, 77 patients were included (mean age 47.7 years). Vascular risk factors were present in 88.3% patients (hypertension in 53.2%) and previous history of stroke in 36.4%. Patients without history of stroke were younger (46.6 ± 7.2 vs. 49.6 ± 3.9 years, p = 0.045) and had fewer vascular risk factors (p < 0.001). They were more frequently females (87.8 vs. 46.4%, p < 0.001), and headache (30.6 vs. 3.6%, p = 0.007), contrary to focal symptoms (16.3 vs. 53.6%, p = 0.001), was the most frequent reason of referral. Etiological investigations performed differed between Neurologists. A genetic disorder was identified in 6 out of 58 patients (CADASIL n = 5; COL4A1 n = 1).

Conclusion: Young adults with vascular WML evaluated in Neurology outpatient clinics concentrate in the oldest age groups. Vascular risk factors should be screened carefully in this population. Among patients without history of stroke, females largely outweigh males. Diagnostic investigations performed do not follow a standardized protocol.
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http://dx.doi.org/10.1159/000504409DOI Listing
June 2020

Modulation of sensory nerve fiber excitability by transcutaneous cathodal direct current stimulation.

Neurophysiol Clin 2019 Nov 15;49(5):385-390. Epub 2019 Nov 15.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences, Hospital de Santa Maria, Centro Hospitalar de Lisboa Norte, Lisbon, Portugal.

Objective: To assess the lasting effects on sensory nerve membrane excitability of transcutaneous peripheral nerve stimulation with cathodal direct currents (pDCS).

Methods: We performed pDCS in 10 healthy subjects with the active electrode placed over the distal right forearm and the reference electrode on the back of the right hand. We used 5×5cm rubber electrodes and the current applied was 2.5mA during 15min. Three pDCS sessions were performed on the same day: first, a baseline stimulation was performed, followed by a sham stimulation and lastly a cathodal stimulation. Median sensory nerve excitability measurements were performed at baseline and immediately after each pDCS session using the TRONDNF nerve excitability protocol of the QTRAC program (measurement on the second finger).

Results: The protocol was completed and well tolerated in all subjects. RRP (relative refractory period) and refractoriness at 2.5ms were significantly different across the three study conditions, with a significant increase of RRP immediately following cathodal stimulation compared with baseline assessment (mean 4.2 versus 5.3, P=0.002). Other measurements were not modulated by the intervention. Sham-stimulation did not change axonal excitability.

Conclusions: Cathodal pDCS stimulation increased RRP of sensory fibers, but no other consistent long-lasting effect was observed. This finding might suggest a reduction of sensory fiber excitability induced by cathodal pDCS.
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http://dx.doi.org/10.1016/j.neucli.2019.10.001DOI Listing
November 2019

Acute-onset chronic inflammatory demyelinating polyneuropathy with anti-neurofascin-155 antibodies and bilateral facial nerve enhancement.

J Neuroimmunol 2019 11 21;336:577026. Epub 2019 Aug 21.

Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Rua da Junqueira 126, 1349-019 Lisbon, Portugal; CEDOC - Chronic Diseases Research Center, Nova Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.

A 26-year-old female presented with acute onset distal paraparesis, upper limb tremor and bilateral facial palsy. Neurophysiology revealed a sensorimotor demyelinating polyneuropathy and lumbar puncture revealed an albuminocytologic dissociation. Neuroaxis MRI revealed bilateral facial nerve and cauda equina enhancement. Initially diagnosed as Guillain-Barré Syndrome, poor response to intravenous immunoglobulin, persistent deterioration, anti-neurofascin-155 antibodies and clinical response to steroid therapy led to diagnosis of acute-onset chronic inflammatory demyelinating polyneuropathy (CIDP). CIDP patients with anti-neurofascin-155 antibodies are younger, with distal predominant weakness, tremor, and poor response to intravenous immunoglobulin. Up to 16% can present acutely, however bilateral facial weakness is rare.
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http://dx.doi.org/10.1016/j.jneuroim.2019.577026DOI Listing
November 2019

Cognitive complaints in Parkinson's disease patients: from subjective cognitive complaints to dementia and affective disorders.

J Neural Transm (Vienna) 2019 10 5;126(10):1329-1335. Epub 2019 Jul 5.

Department of Neurology, Hospital Egas Moniz, Rua Junqueira, 126, 1349-019, Lisbon, Portugal.

Subjective cognitive complaints (SCC) are frequent in elderly populations. PD patients report SCC more often than healthy controls. The association between SCC, objective cognitive impairment and affective symptoms remains controversial. We assessed consecutive PD patients between March 2014 and March 2015. Presence of SCC was defined as a score ≥ 1 in the Non-Motor Symptom Assessment Scale for Parkinson's Disease (NMSS) Domain 5. MoCA was used for cognitive impairment assessment. Pill Questionnaire measured the impact in daily activities. PD with Dementia (PDD) and PD with Mild Cognitive Impairment (PDMCI) were defined as the presence of cognitive impairment with or without impact on daily activities. Anxiety and depression were assessed using the Hospital Anxiety and Depression Scales. Significance was set at p < 0.05. From 134 patients, 128 were included. PDD was diagnosed in 21 (16.4%), PDMCI in 31 (24.2%), and 76 (59.4%) had normal cognition (PDCN). SCC were present in 85% of whole cohort and evenly distributed (p = 0.361), PDD (95.2%), PDMCI (83.9%) and PDCN (82.9%). Severity was significantly different between PDD (20.00 ± 10.81), PDMCI (6.54 ± 5.5) and PDCN (6.97 ± 6.98), p < 0.001. A score ≥ 19 had a specificity of 77.3% and a sensitivity of 78.8% for identifying PDD. In PDCN, SCC severity was found to be related to depression (OR 1.23, CI 95% 1.02-1.47, p = 0.026) more than with MoCA scores (OR: 0.86, CI 95% 0.69-1.05, p = 0.141). SCC are common in PD. Their severity can help distinguish PDD from non-demented PD patients. In PDCN, SCC should alert the clinician for an affective disorder.
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http://dx.doi.org/10.1007/s00702-019-02042-8DOI Listing
October 2019

A 15-minute session of direct current stimulation does not produce lasting changes in axonal excitability.

Neurophysiol Clin 2019 Sep 13;49(4):277-282. Epub 2019 Jun 13.

Institute of Physiology, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitario de Lisboa-Norte, Lisbon, Portugal. Electronic address:

Objective: To assess the applicability and lasting effects on axonal membrane excitability of transcutaneous peripheral nerve direct current stimulation (pDCS).

Methods: We included 15 healthy subjects. pDCS was performed with the active electrode placed over the left forearm and the reference electrode on the back of the hand. We used 5×5cm rubber electrodes and the current applied was 2.5mA during 15minutes. Three pDCS sessions were performed on the same day with a 20-minute interval between them: first a sham stimulation, followed by cathodal and anodal stimulations in random order. Motor nerve excitability measurements were performed immediately after each pDCS session using the TRONDNF nerve excitability protocol of the QTRAC program.

Results: The protocol was completed and well tolerated in all subjects. There were no consistent significant differences in excitability measurements between the three sessions.

Conclusions: No consistent long-lasting effects were noted on peripheral nerve excitability beyond the period of application of pDCS. We showed that a 15-minute session of DCS is not able to produce lasting changes in axonal excitability, supporting the hypothesis that the functional and clinical impact of DCS protocols applied to the central nervous system is related to long-term synaptic changes rather sustained local changes in axonal rest membrane potential.
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http://dx.doi.org/10.1016/j.neucli.2019.05.067DOI Listing
September 2019

Underuse of Prophylactic Treatment Among Portuguese Patients with Primary Headache: A Retrospective Observational Study.

J Oral Facial Pain Headache 2019 24;33(3):331–336. Epub 2019 Apr 24.

Aims: To evaluate prescription of prophylactic treatment before and after consultation in a neurology headache clinic and to determine predictors for prophylactic treatment and clinical improvement.

Methods: Clinical records of consecutive patients assessed in a neurologic headache clinic in Portugal and diagnosed with acute or chronic migraine and/or tension-type headache were assessed. Prescription of prophylaxis before and after the first visit to the clinic were compared. Logistic regression was used to evaluate predictors of the need for therapeutic intervention and clinical improvement.

Results: Among 409 patients (86.8% women; mean age 41.6 years), 315 (77%) had indication for prophylaxis, and 70 (22%) of these patients were already on prophylactic treatment. Among the 265 patients with information for follow-up, prophylactic treatment was added in 178 (67.2%), and there was a significant change in the number of treated patients between the first and second visits. Ongoing treatment was switched or the dose increased in 21 patients. Multivariate logistic regression revealed that women (odds ratio [OR] = 2.09, 95% confidence interval [CI] 1.1 to 3.97] and patients with medication overuse headache (MOH) (OR = 6.97, 95% CI 1.60 to 30.39) were more likely to need therapeutic intervention, whereas patients referred from the emergency room were less likely to need it (OR = 0.44, 95% CI 0.22 to 0.89). Of the 265 patients, 185 (69.8%) had improved at a follow-up. Having prophylactic treatment at the time of the second visit was associated with improvement (OR = 2.39, 95% CI 1.23 to 4.63; P = .01).

Conclusion: Women and medication overuse headache patients were more likely to need therapeutic intervention. However, only a minority of patients with treatment indication were treated before their first visit to the headache clinic. Prophylaxis prescription was associated with clinical improvement at follow-up.
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http://dx.doi.org/10.11607/ofph.2122DOI Listing
November 2019

Late-onset presentation of POLG1-associated mitochondrial disease.

BMJ Case Rep 2019 Mar 31;12(3). Epub 2019 Mar 31.

Neurology Department, Centro Hospitalar de Lisboa Ocidental EPE, Lisboa, Portugal.

Mutations in the nuclear POLG1 gene compromise the integrity of mitochondrial DNA and show great allelic and clinical heterogeneity. Among adult POLG1-associated mitochondrial disease, the main clinical feature is chronic progressive external ophthalmoplegia. Other related clinical manifestations are sensory or cerebellar ataxia, peripheral neuropathy, myopathy or extrapyramidal symptoms. We report the case of a 72-year-old man who presented with a late onset sensory neuronopathy, chronic progressive external ophthalmoplegia, gait ataxia and parkinsonism. Genetic studies showed a compound heterozygosity of known pathogenic mutations in the POLG1 gene (variant T252I/P587 L in cis configuration in allele 1 and variant R807C in allele 2). Late life presentation highlights that mitochondrial disorders should be considered regardless of age of onset of symptoms.
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http://dx.doi.org/10.1136/bcr-2018-228482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453401PMC
March 2019

The Influence of Menopause in Multiple Sclerosis Course: A Longitudinal Cohort Study.

Eur Neurol 2018 15;80(3-4):223-227. Epub 2019 Jan 15.

Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.

Background: Hormonal variations are known to influence the course of multiple sclerosis (MS).

Objectives: We aimed to evaluate the impact of menopause in MS course, including disease activity and disability progression.

Methods: We conducted a retrospective longitudinal cohort study including all women, older than 44, post-menopausal, with a diagnosis of MS at least 1 year before menopause. We evaluated the impact of menopause in MS course comparing clinical and radiologic outcomes within 5 years before and after menopause. We repeated the analysis in subgroups of patients without disease-modifying treatment (DMT) change or co-morbidities diagnosed during the observation period, considering that those factors might also impact MS outcomes.

Results: Thirty-seven women, with a mean age at the time of menopause of 49.8 (±4.06) years were included in the analysis. Within 5 years following menopause, we observed a decrease in the annualized relapse rate (0.37 ± 0.35 pre-menopause vs. 0.08 ± 0.18 post-menopause, p < 0.001) compared with the same period before menopause, while the EDSS progression rate remained stable (0.13 ± 0.24 EDSS point/year pre-menopausal vs. 0.13 ± 0.18 post-menopause, p = 0.935). EDSS progression events frequency was similar before and after the menopause (37.8 vs. 48.6%, respectively, p = 0.424). These observations persisted in patients' subgroups without DMT switch or co-morbidities.

Conclusions: Following menopause, we observed a reduction in the relapse rate, but the disability progression continued at a similar rate, compared to the pre-menopausal period. These observations persisted in the subgroup of patients without changes in DMT or co-morbidities diagnosed during the observation period.
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http://dx.doi.org/10.1159/000496374DOI Listing
March 2019

Analysis of riluzole's profile of use in a Central Hospital in Lisbon.

Patient Prefer Adherence 2018 6;12:2357-2361. Epub 2018 Nov 6.

Neurology Department, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.

Purpose: Riluzole is indicated to prolong life or delay the institution of mechanical ventilation in patients with amyotrophic lateral sclerosis (ALS). Clinical studies have shown that this drug prolongs survival, defined as living patients who are not intubated for mechanical ventilation and without tracheotomy. The purpose of this study is to characterize riluzole's use as well as the user population in order to contribute to a rational and safe use.

Patients And Methods: Descriptive, observational, retrospective study describing and characterizing the use of riluzole in ALS patients between July 2006 and December 2016 conducted in a Lisbon's Central Hospital.

Results: Over the course of the study period, 77 patients with different phenotypes of ALS received riluzole. The majority of patients (63%, n=49) were male. The median survival was 10.1 months, but 12 patients (16%) remained on therapy for more than 3 years; 65% of patients were lost to follow-up. The mean adherence rate was 91.2%, and the median adherence rate was 99.3%. One patient discontinued therapy due to gastrointestinal intolerance. Dyspnea and cough were the most common side effects, with roughly one third of patients experiencing each, followed by asthenia and hepatic effects.

Conclusion: Despite the extended enrollment period, only 77 patients met the criteria for study inclusion. Nonetheless, statistical data regarding our population is in accordance with reported international data. High adherence rates were observed, but 14% of patients discontinued riluzole. In such cases, assessment by a multidisciplinary team is warranted.
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http://dx.doi.org/10.2147/PPA.S167861DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6229141PMC
November 2018

Effect of patients' expectations on clinical response to fampridine treatment.

Neurol Sci 2019 Jan 29;40(1):175-180. Epub 2018 Oct 29.

Department of Neurology, Hospital Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Serviço de Neurologia, Hospital Egas Moniz, Rua da Junqueira 126, 1349-019, Lisbon, Portugal.

Introduction: Patient expectation of treatment outcome is one of the primary mechanisms underlying the placebo effect. In multiple sclerosis trials with symptomatic treatments, a robust placebo effect is observed, which might be related to patient expectations. The aim of this study was to evaluate whether patient expectations regarding fampridine treatment influence the clinical response after 4 weeks and 6 months of treatment.

Materials And Methods: We designed and carried out a prospective study from June 2015 to August 2017. Before treatment, patients completed a questionnaire including a scale evaluating their expectations regarding the treatment. The effect of baseline positive expectancy on the response status after 4 weeks and 6 months of treatment was analyzed through univariable and, when applicable, multivariable analysis.

Results: A total of 47 consecutive patients were included in the study. At week 4, 37 (78.7%) patients were classified as responders; a one-point increase in the positive expectancy questionnaire was significantly associated with a fourfold increase in the likelihood of being a responder [OR = 4.020 (95% CI 1.082-14.933); p = 0.038]. At 6 months, 43 patients completed follow-up. The number of responders decreased to 28; at this point, positive expectancy at baseline was no longer associated with response status.

Conclusion: Baseline positive expectancy regarding fampridine was determinant of the clinical response after 4 weeks of treatment. However, in the long term, fampridine efficacy was not dependent on expectations prior to treatment.
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http://dx.doi.org/10.1007/s10072-018-3613-xDOI Listing
January 2019

Cerebral amyloid angiopathy - The modified Boston criteria in clinical practice.

J Neurol Sci 2018 Jan 20;384:55-57. Epub 2017 Nov 20.

Department of Neurology, Hospital Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Rua da Junqueira, 126, Lisbon 1349-019, Portugal; CEDOC - Chronic Diseases Research Center, Nova Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.

Background: Early identification of patients with cerebral amyloid angiopathy (CAA) is relevant considering the increased risk for cerebral hemorrhage. A new set of diagnostic criteria for CAA was recently proposed, which include the presence of superficial siderosis. We aimed to assess the impact of applying these criteria regarding use of antithrombotic therapy.

Methods: Review of consecutive patients admitted to a Neurology Department from 2014 to 2016, with acute parenchymal or subarachnoid hemorrhage and/or atypical transient focal neurological episodes. Patients with a possible or probable CAA according to the original and modified Boston criteria were included. Information was collected regarding presentation, imaging findings and concomitant therapy.

Results: Among a total of 1436 admitted patients, 52 with acute hemorrhagic lesions or atypical TFNE were screened: 22 met criteria for CAA; 4 were deemed too young; 21 had other causes for hemorrhagic parenchymal lesions; and 5 had uncertain diagnosis. Using the modified Boston criteria, 8 patients fulfilled criteria for probable CAA and 14 for possible CAA. When we applied the original Boston criteria to the same patients, only 7 fulfilled criteria for probable CAA and 8 for possible CAA. Among the additional patients identified with the modified Boston criteria, 4 were using antithrombotic therapy.

Conclusions: The use of the modified Boston criteria allowed for the identification of 7 additional patients, more than half of which were taking antithrombotic therapy. Systematic use of these criteria could have an important impact in clinical practice. Raising awareness on the different presentations of CAA among clinicians is of the utmost importance.
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http://dx.doi.org/10.1016/j.jns.2017.11.021DOI Listing
January 2018

Letter to the Editor: Medication-Overuse Headache is Common in Portuguese Migraineurs.

Acta Med Port 2017 09 29;30(9):664-665. Epub 2017 Sep 29.

Headache Study Group. Centro Hospitalar de Lisboa Ocidental. Lisboa. Portugal.

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http://dx.doi.org/10.20344/amp.9076DOI Listing
September 2017

Characterization of motor events in REM sleep behavior disorder.

J Neural Transm (Vienna) 2017 10 18;124(10):1183-1186. Epub 2017 Jul 18.

Department of Neurology, Hospital de Egas Moniz (CHLO), Centro Hospitalar de Lisboa Ocidental, Rua da Junqueira, 126, 1349-019, Lisbon, Portugal.

We used video-polysomnography to characterize motor events (ME) in 14 Parkinson's disease (PD-RBD) and 18 idiopathic (iRBD) REM sleep behavior disorder cases. ME occurred predominantly in the upper limbs and were mostly simple, non-emotional, distal and focal. There were no significant differences in ME features between PD-RBD and iRBD groups. Our data suggests that RBD ME are mostly non violent. Similarity between PD-RBD and iRBD groups suggests that motor dysfunction does not affect ME features.
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http://dx.doi.org/10.1007/s00702-017-1759-yDOI Listing
October 2017

Motor and non-motor symptoms in old-age onset Parkinson's disease patients.

J Neural Transm (Vienna) 2017 07 17;124(7):863-867. Epub 2017 Mar 17.

Department of Neurology, Hospital Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.

Advancing age is a well-known risk factor for Parkinson's disease (PD). With population ageing it is expected that the total number of patients with PD onset at oldage increases. Information on the motor but particularly on non-motor phenotype of this late-onset population is lacking. We recruited 24 patients with PD onset at or over 75 years. Each patient was matched with 1 control patient with PD onset between the ages of 40 and 65 and matched for disease duration. Both groups were assessed with the UPDRS, the Non-motor symptoms scale (NMSS) and other scales to assess non-motor symptoms. Groups were compared with conditional logistic regression analysis. Old-age onset PD was, on average, 80 years at the time of PD onset while middle-age onset were 59. Disease duration was approximately 5 years in both groups. While no difference was observed in the total UPDRS-III scores, old-age onset PD was associated with higher axial symptoms (7.42 vs. 4.63, p = 0.011) and a higher frequency of dementia (7/24 vs. 0/24, p = 0.009). While no difference in the total number of non-motor symptoms was observed (6.79 vs. 6.22, p = 0.310), old-age onset patients had a higher prevalence of gastrointestinal symptoms (20/24 vs. 12/24, p = 0.037). For the same disease duration, older age onset is associated with worse axial motor dysfunction and dementia in PD patients. Beside gastrointestinal symptoms, non-motor symptoms are not associated with age.
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http://dx.doi.org/10.1007/s00702-017-1711-1DOI Listing
July 2017

"Dr Google" will see you now - time trends in online searches on headache.

Cephalalgia 2018 02 28;38(2):407-408. Epub 2016 Nov 28.

1 Neurology Department, Hospital Egas Moniz - Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.

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http://dx.doi.org/10.1177/0333102416681572DOI Listing
February 2018

Gender-based violence and sexual and reproductive health among low-income youth in three Brazilian cities.

Reprod Health Matters 2016 May 13;24(47):141-52. Epub 2016 Aug 13.

Associate Professor, Pontifical Catholic University of Minas Gerais, Brazil.

In this article, we investigate how gender-based violence (GBV) affects the sexual and reproductive health of impoverished adolescents and young adults. We analyse data from a 2011 survey of 450 young women and 300 young men aged 15-29, living in poor neighbourhoods of three middle-sized cities in Minas Gerais, Brazil. In this survey we used a closed-ended questionnaire to collect data from 150 women and 100 men in each city. Our main goal was to explore the relationship between GBV and young women's autonomy in relation to their sexuality, using indicators appropriate to Brazil. Our results showed a decreased prevalence of condom use at first intercourse and an increased prevalence of teenage pregnancies among young women who were in a relationship with a controlling and violent partner. Lower condom use was observed mostly among young men who acknowledged being violent and controlling towards a partner and they also were more likely to have made a partner pregnant as teenagers themselves. We conclude that some variables utilized here as indicators of control and violence from a partner and of young women's autonomy can help us to understand how GBV inside relationships affects the reproductive and sexual health of young men and women, and how empowering them can reduce their susceptibility to unwanted pregnancies and HIV and other STI infections.
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http://dx.doi.org/10.1016/j.rhm.2016.06.009DOI Listing
May 2016

Non-Motor symptoms in Portuguese Parkinson's Disease patients: correlation and impact on Quality of Life and Activities of Daily Living.

Sci Rep 2016 08 30;6:32267. Epub 2016 Aug 30.

Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Rua da Junqueira, 126 1349-019 Lisboa, Portugal.

The prevalence of non-motor symptoms (NMS) in Parkinson's Disease (PD) has varied between studies. Their interrelation isn't totally understood. Also, the relative importance of each symptom, regarding its impact on activities of daily living (ADL) and health related quality of life (HRQL), remains debatable. We assessed all PD patients attending a Portuguese tertiary movement disorders center during one year (n = 134), with ADL, HRQL and other clinical scales approved for identifying the most relevant NMS in PD. All patients had at least one NMS. Sleep/fatigue, affect/cognition, attention/memory were the most frequent complaints, and their prevalence, above 80%, was higher than in most studies. There were significantly correlations between: sleepiness, psychosis and cognition; gastrointestinal, cardiovascular symptoms and pain; depression and apathy; anxiety and insomnia; olfaction, weight and hyperhidrosis. Depression/apathy exerted the strongest influence on HRQL and non-tremor motor dysfunction on ADL. Compared to studies in other countries, we found a higher prevalence of NMS, which could be specific of this population. The interrelation between NMS could be related to degeneration of different brain structures. NMS exert a stronger influence than MS in HRQL, which should be taken in account regarding treatment options.
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http://dx.doi.org/10.1038/srep32267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004191PMC
August 2016

Post-malaria neurological syndrome or viral encephalitis?

BMJ Case Rep 2016 Jan 7;2016. Epub 2016 Jan 7.

Neurology Department, Hospital Egas Moniz-Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal.

We present a case of a 60-year-old Caucasian man recently returned from Angola, where he had been successfully treated for a severe (non-cerebral) falciparum malaria infection. He was presented to the emergency room, with a subacute onset encephalopathy, ataxia and a generalised tonic-clonic seizure. Cerebrospinal fluid (CSF) analysis revealed lymphocytic pleocytosis (123 cells/µL) and hyperproteinorrhachia (188 mg/dL). Brain MRI and EEG were unremarkable. CSF PCR testing for neurotropic viruses was negative as were CSF and blood cultures. The patient was treated with ceftriaxone and acyclovir, with full recovery on the second day of treatment. We believe post-malaria neurological syndrome, a rare self-limited encephalopathy, should be considered in the differential diagnosis. Nevertheless, the presentation, lack of changes on brain MRI and EEG, along with possible false-negative CSF viral PCR, could still represent a viral encephalitis, which brings to question the treatment approach to adopt (conservative vs wide spectrum antiviral plus antibiotics).
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http://dx.doi.org/10.1136/bcr-2015-213591DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716385PMC
January 2016

Association of depressive symptoms with allodynia in patients with migraine: A cross-sectional study.

Cephalalgia 2016 Oct 21;36(11):1077-1081. Epub 2016 Jul 21.

1 Neurology Department, Hospital Egas Moniz - Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.

Aims Migraine and depression have a strong association. We aimed to determine whether this relationship was particularly evident in migraineurs with allodynia. Methods A cross-sectional study was carried out of 98 consecutive patients with episodic migraine presenting for their first evaluation in an outpatient clinic. The participants completed a demographic questionnaire, the Allodynia Symptom Checklist and the Hospital Anxiety and Depression Scale (HADS). Results Among the migraineurs, 75 (77%) reported allodynia. Allodynia was associated with higher median HADS-Anxiety (9 vs. 6, p = 0.038) and HADS-Depression (6 vs. 4, p = 0.014) scores. In a multiple regression model, the HADS-Depression scores were independently associated with allodynia (odds ratio 1.236, 95% confidence interval 1.046-1.461). An increased severity of allodynia correlated with higher depression scores ( r = 0.224; p = 0.027). Conclusion Anxious and depressive symptoms are more common in migraineurs with allodynia than in those without allodynia. Further studies are necessary to clarify the relationship between depressive symptoms and allodynia, as well as its therapeutic implications in migraine.
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http://dx.doi.org/10.1177/0333102415620285DOI Listing
October 2016

Embolic stroke of unknown source (ESUS) in young patients.

Int J Stroke 2015 Oct;10 Suppl A100:165

Department of Neurology, Hospital Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.

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http://dx.doi.org/10.1111/ijs.12596DOI Listing
October 2015

Stroke-Like Episodes Heralding a Reversible Encephalopathy: Microbleeds as the Key to the Diagnosis of Cerebral Amyloid Angiopathy-Related Inflammation-A Case Report and Literature Review.

J Stroke Cerebrovasc Dis 2015 Sep 2;24(9):e245-50. Epub 2015 Jul 2.

Neurology Department, Hospital Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal; Centro de Estudos de Doenças Crónicas (CEDOC), Nova Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.

Background: Cerebral amyloid angiopathy (CAA) is a common, often asymptomatic disease. Lobar intracerebral hemorrhage is the most frequent manifestation of CAA. Nevertheless, presentation of CAA with subacute cognitive decline, seizures, or headache with concomitant hyperintensities on T2-weighted magnetic resonance imaging (MRI) sequences and neuropathologic evidence of inflammation has been described. This disorder is known as CAA-related inflammation (CAA-ri).

Methods: Description of a stroke-like presentation of CAA-ri and systematic review of case reports and case series of CAA-ri.

Results: A 75-year-old woman with a history of atrial fibrillation, and a transient episode of aphasia 2 days before, presented in the emergency room with sudden onset aphasia. Brain computed tomography disclosed a left temporal hypodensity. A diagnosis of probable stroke was given. During the following days, there was a progressive clinical deterioration. MRI revealed coalescent edematous white matter lesion, hyperintense on T2-weighted sequences, and multiple lobar microbleeds on T2*-weighted sequences. A diagnosis of CAA-ri was considered, and the patient was started on steroids with clinical and imaging improvement. From our systematic review, microbleeds were present in almost 90% of patients with CAA-ri.

Conclusions: Imaging findings associated with CAA-ri allow the early diagnosis and treatment of this potentially reversible disorder. Aside from the most common subacute presentations, CAA-ri can have a stroke-like presentation and be a stroke mimic.
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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2015.04.042DOI Listing
September 2015

Improving door-to-needle times: the effect of positive reinforcement via text message.

Int J Stroke 2015 Jul;10(5):E45

Department of Neurology, Hospital Egas Moniz, Centro Hospitalar de Lisboa Ocidental, CEDOC - Faculdade de Ciências Médicas da Universidade Nova de Lisboa, Lisboa, Portugal.

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http://dx.doi.org/10.1111/ijs.12501DOI Listing
July 2015
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