21 results on '"Fradique Moreira"'
Search Results
2. Coreia Aguda Generalizada, Distonia e Calcificações Cerebrais: A Propósito de um Caso Clínico
- Author
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Joana Ramos-Lopes, Ana Brás, Ana Morgadinho, and Fradique Moreira
- Subjects
Calcinose ,Coreia ,Distonia ,Doenças dos Gânglios da Base ,Hipocalcémia ,Hipoparatiroidismo ,Medicine ,Medicine (General) ,R5-920 - Abstract
A calcificação dos núcleos da base, ou síndrome de Fahr, pode ser secundária a variadas doenças, nomeadamente as que cursam com envolvimento da paratiróide. Distúrbios do movimento são achados clínicos comuns, mas a coreia é observada em menos de 20% dos casos e a distonia apenas em 8%. Apresentamos o caso de um homem de 49 anos com antecedentes de tiroidectomia, admitido no serviço de urgência com coreia aguda generalizada e distonia focal dolorosa dos pés, cujo estudo laboratorial revelava hipocalcémia e rabdomiólise e a tomografia computorizada crânio-encefálica mostrava calcificações parenquimatosas extensas com envolvimento dos núcleos da base. A alargada investigação complementar permitiu fazer o diagnóstico de síndrome de Fahr secundária a hipoparatiroidismo iatrogénico. Após estabilização da calcémia, a evolução clínica foi favorável com resolução dos sintomas neurológicos. A hipocalcémia deve ser investigada e corrigida depois de tiroidectomias, dada a irreversibilidade das calcificações intracerebrais e as potenciais consequências neurológicas e sistémicas.
- Published
- 2019
- Full Text
- View/download PDF
3. Translation, Adaptation and Validation of the European Portuguese Version of the NMS-Quest for Parkinson’s Disease
- Author
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Alexandra Silva, Tiago Pedro, and Fradique Moreira
- Subjects
Neurologic Examination ,Parkinson Disease/diagnosis ,Portugal ,Psychometrics ,Reproducibility of Results ,Surveys and Questionnaires ,Medicine ,Medicine (General) ,R5-920 - Abstract
Introduction: Non-motor symptoms are underrecognized features of Parkinson’s disease that impair quality of life and increase mortality. In this study, we aim to translate, adapt and validate the European Portuguese version of the “Non-Motor Symptoms Questionnaire”, which has proven to be a valid and reliable measurement tool of non-motor symptoms in other languages. Material and Methods: Acceptability was evaluated regarding the range of values, ceiling and floor effects. Reliability was measured in terms of internal consistency (Cronbach’s alpha) and reproducibility (intra-class correlation coefficient). For criterion validity analysis, Movement Disorders Society – Unified Parkinson’s Disease Part I domains’ scores were compared to those of the “Non-Motor Symptoms Questionnaire”. For convergent validity, correlations between the “Non-Motor Symptoms Questionnaire” and the Movement Disorders Society – Unified Parkinson’s Disease Part III, Mini-Mental State Examination score, disease duration, and severity were obtained. Results: Seventy nine Parkinson’s disease patients were recruited, with a mean age of 67.2 ± 10.7 years and a disease duration of 10.8 ± 8.8 years. The European Portuguese version of the “Non-Motor Symptoms Questionnaire” total score was free of significant ceiling and floor effects. With the exception of the cardiovascular domain, adequate overall internal consistency was achieved. The questionnaire domains and the corresponding Movement Disorders Society – Unified Parkinson’s Disease Part I dimensions were significantly correlated, although the total questionnaire score was modestly correlated with disease duration and severity, motor and non-motor symptoms severity and cognitive dysfunction. Discussion: This is the first study to translate, adapt and validate a widely used screening instrument of non-motor symptoms of European Portuguese speaking Parkinson’s disease patients. Conclusion: The European Portuguese version of “Non-Motor Symptoms Questionnaire” is a valid and reliable tool for screening nonmotor symptoms in patients with Parkinson’s disease.
- Published
- 2021
- Full Text
- View/download PDF
4. Impulsivity across reactive, proactive and cognitive domains in Parkinson's disease on dopaminergic medication: Evidence for multiple domain impairment.
- Author
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Nádia Canário, Mário Sousa, Fradique Moreira, Isabel Catarina Duarte, Francisco Oliveira, Cristina Januário, and Miguel Castelo-Branco
- Subjects
Medicine ,Science - Abstract
Impulse control disorders (ICD) may occur in Parkinson's disease (PD) although it remains to be understood if such deficits may occur even in the absence of a formal ICD diagnosis. Moreover, studies addressing simultaneously distinct neurobehavioral domains, such as cognitive, proactive and reactive motor impulsivity, are still lacking. Here, we aimed to investigate if reactive, proactive and cognitive impulsivity involving risk taking are concomitantly affected in medicated PD patients, and whether deficits were dependent on response strategies, such as speed accuracy tradeoffs, or the proportion of omission vs. commission errors. We assessed three different impulsivity domains in a sample of 21 PD patients and 13 matched controls. We found impaired impulsivity in both reactive (p = 0.042) and cognitive domains (p = 0.015) for the PD patients, irrespective of response strategy. For the latter, effect sizes were larger for the actions related with reward processing (p = 0.017, dCohen = 0.9). In the proactive impulsivity task, PD patients showed significantly increased number of omissions (p = 0.041), a response strategy which was associated with preserved number of commission errors. Moreover, the number of premature and proactive response errors were correlated with disease stage. Our findings suggest that PD ON medication is characterized compared to healthy controls by impairment across several impulsivity domains, which is moderated in the proactive domain by the response strategy.
- Published
- 2019
- Full Text
- View/download PDF
5. Mielite Extensa como Manifestação de Neuroborreliose
- Author
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Ana Brás, Nuno Marques, Beatriz Santiago, Anabela Matos, and Fradique Moreira
- Subjects
Mielite Transversa ,Neuroborreliose de Lyme. ,Medicine ,Medicine (General) ,R5-920 - Abstract
As manifestações neurológicas na doença de Lyme ocorrem em 3% - 12% dos doentes, sendo a forma de apresentação mais comum a meningorradiculite. Outros sintomas de envolvimento do sistema nervoso central, como encefalomielite ou mielite são raros (< 5%). Descreve-se um caso clínico de um homem de 66 anos com uma mielite transversa extensa, de instalação subaguda, secundária a infeção por Borrelia burgdorferi. O doente foi submetido a terapêutica antibiótica dirigida, com uma boa evolução clínica. A raridade na forma de apresentação clínica e imagiológica deste caso, tendo como base uma doença infecciosa tratável, destaca a importância da sua inclusão no diagnóstico diferencial da mielite transversa longitudinalmente extensa.
- Published
- 2016
- Full Text
- View/download PDF
6. Peri-Lead Edema After Deep Brain Stimulation Surgery for Parkinson Disease: A Management Challenge
- Author
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Inês Antunes Cunha, Inês Carvalho, and Fradique Moreira
- Subjects
Cellular and Molecular Neuroscience ,Neurology (clinical) - Published
- 2022
7. Translation, Adaptation and Validation of the European Portuguese Version of the NMS-Quest for Parkinson’s Disease
- Author
-
Fradique Moreira, Tiago Pedro, Alexandra Silva, and Não aplicável
- Subjects
psychometrics ,medicine.medical_specialty ,Movement disorders ,Parkinson's disease ,Psychometrics ,Neurologic Examination ,Parkinson Disease/diagnosis ,Portugal ,Reproducibility of Results ,Surveys and Questionnaires ,Translating ,parkinson disease/diagnosis ,lcsh:Medicine ,Quality of life ,European Portuguese ,Cronbach's alpha ,neurologic examination ,Criterion validity ,Medicine ,Humans ,Aged ,Language ,lcsh:R5-920 ,translating ,business.industry ,Doença de Parkinson/diagnóstico ,Exame Neurológico ,Inquéritos e Questionários ,Psicometria ,Reprodutibilidade dos Testes ,Tradução ,lcsh:R ,Parkinson Disease ,General Medicine ,Middle Aged ,medicine.disease ,portugal ,language.human_language ,Convergent validity ,surveys and questionnaires ,language ,Physical therapy ,Quality of Life ,reproducibility of results ,medicine.symptom ,business ,lcsh:Medicine (General) - Abstract
Introduction: Non-motor symptoms are underrecognized features of Parkinson’s disease that impair quality of life and increase mortality. In this study, we aim to translate, adapt and validate the European Portuguese version of the “Non-Motor Symptoms Questionnaire”, which has proven to be a valid and reliable measurement tool of non-motor symptoms in other languages.Material and Methods: Acceptability was evaluated regarding the range of values, ceiling and floor effects. Reliability was measured in terms of internal consistency (Cronbach’s alpha) and reproducibility (intra-class correlation coefficient). For criterion validity analysis, Movement Disorders Society – Unified Parkinson’s Disease Part I domains’ scores were compared to those of the “Non-Motor Symptoms Questionnaire”. For convergent validity, correlations between the “Non-Motor Symptoms Questionnaire” and the Movement Disorders Society – Unified Parkinson’s Disease Part III, Mini-Mental State Examination score, disease duration, and severity were obtained.Results: Seventy nine Parkinson’s disease patients were recruited, with a mean age of 67.2 ± 10.7 years and a disease duration of 10.8 ± 8.8 years. The European Portuguese version of the “Non-Motor Symptoms Questionnaire” total score was free of significant ceiling and floor effects. With the exception of the cardiovascular domain, adequate overall internal consistency was achieved. The questionnaire domains and the corresponding Movement Disorders Society – Unified Parkinson’s Disease Part I dimensions were significantly correlated, although the total questionnaire score was modestly correlated with disease duration and severity, motor and non-motor symptoms severity and cognitive dysfunction.Discussion: This is the first study to translate, adapt and validate a widely used screening instrument of non-motor symptoms of European Portuguese speaking Parkinson’s disease patients.Conclusion: The European Portuguese version of “Non-Motor Symptoms Questionnaire” is a valid and reliable tool for screening nonmotor symptoms in patients with Parkinson’s disease.
- Published
- 2021
8. PRKRAP1 Pseudogene Complicating the Diagnosis of Young‐Onset Dystonia Due to PRKRA Gene Disease‐Causing Variants (DYT‐ PRKRA)
- Author
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Joana Afonso Ribeiro, Mário Sousa, Isabel Alonso, Fradique Moreira, Ricardo Pereira, and Filipe Palavra
- Subjects
Neurology ,Neurology (clinical) ,Letters: Genotype and Phenotype - Published
- 2022
9. Coreia Aguda Generalizada, Distonia e Calcificações Cerebrais: A Propósito de um Caso Clínico
- Author
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Ana Morgadinho, Fradique Moreira, Ana Brás, and Joana Ramos-Lopes
- Subjects
medicine.medical_specialty ,Movement disorders ,Calcinose ,Distonia ,medicine.medical_treatment ,Hipoparatiroidismo ,lcsh:Medicine ,Basal ganglia calcification ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Doenças dos Gânglios da Base ,Coreia ,Basal ganglia disease ,Dystonia ,lcsh:R5-920 ,Hipocalcémia ,business.industry ,lcsh:R ,Thyroidectomy ,Chorea ,General Medicine ,Iatrogenic Hypoparathyroidism ,medicine.disease ,Hypoparathyroidism ,030220 oncology & carcinogenesis ,030211 gastroenterology & hepatology ,Radiology ,medicine.symptom ,lcsh:Medicine (General) ,business - Abstract
A calcificação dos núcleos da base, ou síndrome de Fahr, pode ser secundária a variadas doenças, nomeadamente as que cursam com envolvimento da paratiróide. Distúrbios do movimento são achados clínicos comuns, mas a coreia é observada em menos de 20% dos casos e a distonia apenas em 8%. Apresentamos o caso de um homem de 49 anos com antecedentes de tiroidectomia, admitido no serviço de urgência com coreia aguda generalizada e distonia focal dolorosa dos pés, cujo estudo laboratorial revelava hipocalcémia e rabdomiólise e a tomografia computorizada crânio-encefálica mostrava calcificações parenquimatosas extensas com envolvimento dos núcleos da base. A alargada investigação complementar permitiu fazer o diagnóstico de síndrome de Fahr secundária a hipoparatiroidismo iatrogénico. Após estabilização da calcémia, a evolução clínica foi favorável com resolução dos sintomasneurológicos. A hipocalcémia deve ser investigada e corrigida depois de tiroidectomias, dada a irreversibilidade das calcificações intracerebrais e as potenciais consequências neurológicas e sistémicas.
- Published
- 2019
10. Automatic classification of idiopathic Parkinson's disease and atypical parkinsonian syndromes combining [11C]raclopride PET uptake and MRI grey matter morphometry
- Author
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Cristina Januário, Antero J. Abrunhosa, Ana Paula Moreira, Francisco P. M. Oliveira, Miguel Castelo-Branco, Fradique Moreira, and Ricardo Martins
- Subjects
Raclopride ,medicine.diagnostic_test ,business.industry ,Dementia with Lewy bodies ,11C-Raclopride positron emission tomography ,Computer-aided diagnosis ,Parkinsonian syndromes ,machine learning ,magnetic resonance imaging ,multimodality imaging ,0206 medical engineering ,Biomedical Engineering ,Magnetic resonance imaging ,02 engineering and technology ,Grey matter ,medicine.disease ,020601 biomedical engineering ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,0302 clinical medicine ,medicine.anatomical_structure ,Atrophy ,Positron emission tomography ,Medicine ,Corticobasal degeneration ,business ,Nuclear medicine ,030217 neurology & neurosurgery ,medicine.drug - Abstract
Objective.To explore the viability of developing a computer-aided diagnostic system for Parkinsonian syndromes using dynamic [11C]raclopride positron emission tomography (PET) and T1-weighted magnetic resonance imaging (MRI) data.Approach.The biological heterogeneity of Parkinsonian syndromes renders their statistical classification a challenge. The unique combination of structural and molecular imaging data allowed different classifier designs to be tested. Datasets from dynamic [11C]raclopride PET and T1-weighted MRI scans were acquired from six groups of participants. There were healthy controls (CTRLn= 15), patients with Parkinson’s disease (PDn= 27), multiple system atrophy (MSAn= 8), corticobasal degeneration (CBDn= 6), and dementia with Lewy bodies (DLBn= 5). MSA, CBD, and DLB patients were classified into one category designated as atypical Parkinsonism (AP). The distribution volume ratio (DVR) kinetic parameters obtained from the PET data were used to quantify the reversible tracer binding to D2/D3 receptors in the subcortical regions of interest (ROI). The grey matter (GM) volumes obtained from the MRI data were used to quantify GM atrophy across cortical, subcortical, and cerebellar ROI.Results.The classifiers CTRL vs PD and CTRL vs AP achieved the highest balanced accuracy combining DVR and GM (DVR-GM) features (96.7%, 92.1%, respectively), followed by the classifiers designed with DVR features (93.3%, 88.8%, respectively), and GM features (69.6%, 86.1%, respectively). In contrast, the classifier PD vs AP showed the highest balanced accuracy (78.9%) using DVR features only. The integration of DVR-GM (77.9%) and GM features (72.7%) produced inferior performances. The classifier CTRL vs PD vs AP showed high weighted balanced accuracy when DVR (80.5%) or DVR-GM features (79.9%) were integrated. GM features revealed poorer performance (59.5%).Significance.This work was unique in its combination of structural and molecular imaging features in binary and triple category classifications. We were able to demonstrate improved binary classification of healthy/diseased status (concerning both PD and AP) and equate performance to DVR features in multiclass classifications.
- Published
- 2021
11. Automatic classification of idiopathic Parkinson's disease and atypical Parkinsonian syndromes combining [
- Author
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Ricardo, Martins, Francisco, Oliveira, Fradique, Moreira, Ana Paula, Moreira, Antero, Abrunhosa, Cristina, Januário, and Miguel, Castelo-Branco
- Subjects
Parkinsonian Disorders ,Raclopride ,Positron-Emission Tomography ,Humans ,Parkinson Disease ,Gray Matter ,Magnetic Resonance Imaging - Published
- 2020
12. Cutaneous adverse drug reaction after continuous subcutaneous apomorphine infusion
- Author
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Cristina Januário, Joana Calvão, Fradique Moreira, José Carlos Cardoso, and Margarida Gonçalo
- Subjects
Parkinson's disease ,Apomorphine ,Drug-Related Side Effects and Adverse Reactions ,business.industry ,Injections, Subcutaneous ,Parkinson Disease ,Dermatology ,Sodium metabisulfite ,Pharmacology ,medicine.disease ,chemistry.chemical_compound ,Infectious Diseases ,chemistry ,Maculopapular exanthema ,Medicine ,Humans ,business ,Adverse drug reaction ,medicine.drug ,Skin - Published
- 2020
13. Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study
- Author
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Leonor Correia Guedes, Ana Castro Caldas, Loreto Martorell, Nardo Nardocci, Daniel Cuadras Pallejà, Cristina Costa, Julio Ramos Lizana, Fuencisla Gutiérrez, Fradique Moreira, Kylee Tustin, Pedro J. García, Leonidas Stefanis, Luis González Gutiérrez, Juan Darío Ortigoza Escobar, Miguel Coelho, Laura Martí Sánchez, Lidia Vela, Paula Pires, I Gastón, Marcos Madruga, Alejandra Darling, Vincenzo Lupo, Pablo Martinez-Martin, Teresa Temudo, Paulo Rego, Cristina Tello, Carmen Espinós, Sergio Aguilera-Albesa, Montserrat Pujol, Maria Josep Marti, Roser Pons, Marina Magalhães, Joaquim J. Ferreira, Tania Gavilán Iglesias, Giovanna Zorzi, Jean-Pierre Lin, Carmen Rodriguez-Blazquez, Maria Stamelou, Gustavo Lorenzo Sanz, Belén Pérez Dueñas, Carlos Hernández Lahoz, Cristina Garrido, and Miguel Tomás Vila
- Subjects
0301 basic medicine ,Dystonia ,medicine.medical_specialty ,Movement disorders ,Neurodegeneration with brain iron accumulation ,business.industry ,Parkinsonism ,Neurological disorder ,medicine.disease ,Pantothenate kinase-associated neurodegeneration ,03 medical and health sciences ,Inter-rater reliability ,030104 developmental biology ,0302 clinical medicine ,Physical medicine and rehabilitation ,Neurology ,Rating scale ,medicine ,Neurology (clinical) ,medicine.symptom ,Psychiatry ,business ,030217 neurology & neurosurgery - Abstract
Background Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration. Methods In this international cross-sectional study, patients were examined at the referral centers following a standardized protocol. The motor examination was filmed, allowing 3 independent specialists in movement disorders to analyze 28 patients for interrater reliability assessment. The scale included 34 items (maximal score, 135) encompassing 6 subscales for cognition, behavior, disability, parkinsonism, dystonia, and other neurological signs. Results Forty-seven genetically confirmed patients (30 ± 17 years; range, 6-77 years) were examined with the scale (mean score, 62 ± 21; range, 20-106). Dystonia with prominent cranial involvement and atypical parkinsonian features were present in all patients. Other common signs were cognitive impairment, psychiatric features, and slow and hypometric saccades. Dystonia, parkinsonism, and other neurological features had a moderate to strong correlation with disability. The scale showed good internal consistency for the total scale (Cronbach's α = 0.87). On interrater analysis, weighted kappa values (0.30-0.93) showed substantial or excellent agreement in 85% of the items. The scale also discriminated a subgroup of homozygous c.1583C>T patients with lower scores, supporting construct validity for the scale. Conclusions The proposed scale seems to be a reliable and valid instrument for the assessment of pediatric and adult patients with pantothenate kinase-associated neurodegeneration. Additional validation studies with a larger sample size will be required to confirm the present results and to complete the scale validation testing. © 2017 International Parkinson and Movement Disorder Society
- Published
- 2017
14. Impulsivity across reactive, proactive and cognitive domains in Parkinson's disease on dopaminergic medication: Evidence for multiple domain impairment
- Author
-
Isabel Catarina Duarte, Nádia Canário, Cristina Januário, Miguel Castelo-Branco, Francisco P. M. Oliveira, Mário Sousa, and Fradique Moreira
- Subjects
Male ,Parkinson's disease ,Non-Randomized Controlled Trials as Topic ,Dopamine ,Dopamine Agents ,Social Sciences ,Disease ,Biochemistry ,0302 clinical medicine ,Catecholamines ,Response strategy ,Task Performance and Analysis ,Medicine and Health Sciences ,Medicine ,Psychology ,Amines ,Cognitive Impairment ,Multidisciplinary ,Movement Disorders ,Cognitive Neurology ,Organic Compounds ,05 social sciences ,Dopaminergic ,Cognition ,Parkinson Disease ,Neurodegenerative Diseases ,Neurochemistry ,Neurotransmitters ,Middle Aged ,Chemistry ,Neurology ,Physical Sciences ,Female ,medicine.symptom ,Neurochemicals ,Clinical psychology ,medicine.drug ,Research Article ,Personality ,Impulsivity ,Biogenic Amines ,Patients ,Science ,Cognitive Neuroscience ,Motor Activity ,050105 experimental psychology ,03 medical and health sciences ,Motor Reactions ,Humans ,0501 psychology and cognitive sciences ,Multiple domain ,Aged ,Personality Traits ,Behavior ,business.industry ,Organic Chemistry ,Chemical Compounds ,Biology and Life Sciences ,medicine.disease ,Hormones ,Health Care ,Impulsive Behavior ,Cognitive Science ,business ,Dopaminergics ,030217 neurology & neurosurgery ,Neuroscience - Abstract
Impulse control disorders (ICD) may occur in Parkinson’s disease (PD) although it remains to be understood if such deficits may occur even in the absence of a formal ICD diagnosis. Moreover, studies addressing simultaneously distinct neurobehavioral domains, such as cognitive, proactive and reactive motor impulsivity, are still lacking. Here, we aimed to investigate if reactive, proactive and cognitive impulsivity involving risk taking are concomitantly affected in medicated PD patients, and whether deficits were dependent on response strategies, such as speed accuracy tradeoffs, or the proportion of omission vs. commission errors. We assessed three different impulsivity domains in a sample of 21 PD patients and 13 matched controls. We found impaired impulsivity in both reactive (p = 0.042) and cognitive domains (p = 0.015) for the PD patients, irrespective of response strategy. For the latter, effect sizes were larger for the actions related with reward processing (p = 0.017, dCohen = 0.9). In the proactive impulsivity task, PD patients showed significantly increased number of omissions (p = 0.041), a response strategy which was associated with preserved number of commission errors. Moreover, the number of premature and proactive response errors were correlated with disease stage. Our findings suggest that PD ON medication is characterized compared to healthy controls by impairment across several impulsivity domains, which is moderated in the proactive domain by the response strategy.
- Published
- 2018
15. Parkinson's disease with hypocalcaemia: adult presentation of 22q11.2 deletion syndrome
- Author
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Cristina Januário, Joana Ramos Lopes, Ana Brás, and Fradique Moreira
- Subjects
Adult ,Male ,medicine.medical_specialty ,Pediatrics ,Neurology ,Parkinson's disease ,Unusual Association of Diseases/Symptoms ,Disease ,Subspecialty ,vitamin D deficiency ,Calcium Carbonate ,Diagnosis, Differential ,03 medical and health sciences ,0302 clinical medicine ,Calcitriol ,medicine ,Vitamin D and neurology ,DiGeorge Syndrome ,Humans ,Hypocalcaemia ,030212 general & internal medicine ,Early childhood ,Tomography, Emission-Computed, Single-Photon ,Hypocalcemia ,business.industry ,Parkinson Disease ,General Medicine ,medicine.disease ,business ,030217 neurology & neurosurgery - Abstract
A growing amount of evidence indicates that 22q11.2 deletion syndrome (22q11.2DS) increases the risk of early-onset Parkinson's disease (EOPD). Here, we describe a 36-year-old patient with EOPD. The patient presented with 22q11.2DS features, including associated cognitive disabilities, hypocalcaemia and facial dysmorphia that led us to screen for and confirm this deletion. In addition, hypocalcaemia and vitamin D deficiency were the main factors responsible for severe, painful muscle spasms that were non-levodopa (L-Dopa) responsive and remitted after calcium and vitamin D replacement therapy. Many patients with this deletion remain undiagnosed until adulthood due to the absence of 'major' phenotypic hallmarks, which usually present during early childhood. Later onset problems involving various medical subspecialties are increasingly recognised as important components of 22q11.2DS. Therefore, the multisystem nature and associated burden of morbidities demand a high degree of suspicion for this entity from all clinicians regardless of their medical subspecialty.
- Published
- 2018
16. Apathy Profile in Parkinson's and Huntington's Disease: A Comparative Cross-Sectional Study
- Author
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Inês Marques, Fradique Moreira, Nádia Canário, Cristina Januário, Flávia Cunha, António Freire, Mário Sousa, and Joana Jesus-Ribeiro
- Subjects
Adult ,Male ,medicine.medical_specialty ,Movement disorders ,Parkinson's disease ,Apathy ,Neuropsychological Tests ,050105 experimental psychology ,03 medical and health sciences ,0302 clinical medicine ,Huntington's disease ,medicine ,Prevalence ,Dementia ,Humans ,0501 psychology and cognitive sciences ,Psychiatry ,Depression (differential diagnoses) ,Aged ,business.industry ,05 social sciences ,Beck Depression Inventory ,Montreal Cognitive Assessment ,Parkinson Disease ,Middle Aged ,medicine.disease ,Cross-Sectional Studies ,Huntington Disease ,Neurology ,Female ,Neurology (clinical) ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Background/Aims: Apathy is one of the most frequent, disabling and difficult-to-treat symptoms that show up in many neurodegenerative disorders. The aim of this study was to assess and compare apathy profile in Parkinson’s and Huntington’s patients using the same comprehensive instruments to measure apathy, cognition and depressive symptoms. Materials and Methods: We consecutively assessed Parkinson’s disease (PD) and Huntington’s disease (HD) patients recruited from a Movement Disorders Unit. In all patients, information related to demographics, clinical data, motor score (Movement Disorders Society-Unified Parkinson Disease Rating Scale; Unified Huntington Disease Rating Scale), cognition (Montreal Cognitive Assessment scale), depressive symptoms (Beck Depression Inventory II) and apathy (Apathy Evaluation Scale – clinical version) was collected. Patients with dementia or major depression according to Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revised criteria were excluded from the study. Results: Seventy-five patients were enrolled, 45 with PD and 30 with HD. Apathy was present in 42.5% of PD patients and 51.7% of HD patients. In PD patients, apathy was associated with motor score, shorter duration of disease, lower dose of levodopa equivalent daily dose and depressive symptomatology, whereas in HD patients, apathy was related to disease duration, motor score and cognitive impairment. Conclusions: We found a similar prevalence of apathy in PD and HD patients but with different clinical correlations and different apathy domains involved, and this may warrant the development of different therapeutic approaches.
- Published
- 2017
17. Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study
- Author
-
Alejandra, Darling, Cristina, Tello, María Josep, Martí, Cristina, Garrido, Sergio, Aguilera-Albesa, Miguel, Tomás Vila, Itziar, Gastón, Marcos, Madruga, Luis, González Gutiérrez, Julio, Ramos Lizana, Montserrat, Pujol, Tania, Gavilán Iglesias, Kylee, Tustin, Jean Pierre, Lin, Giovanna, Zorzi, Nardo, Nardocci, Loreto, Martorell, Gustavo, Lorenzo Sanz, Fuencisla, Gutiérrez, Pedro J, García, Lidia, Vela, Carlos, Hernández Lahoz, Juan Darío, Ortigoza Escobar, Laura, Martí Sánchez, Fradique, Moreira, Miguel, Coelho, Leonor, Correia Guedes, Ana, Castro Caldas, Joaquim, Ferreira, Paula, Pires, Cristina, Costa, Paulo, Rego, Marina, Magalhães, María, Stamelou, Daniel, Cuadras Pallejà, Carmen, Rodríguez-Blazquez, Pablo, Martínez-Martín, Vincenzo, Lupo, Leonidas, Stefanis, Roser, Pons, Carmen, Espinós, Teresa, Temudo, and Belén, Pérez Dueñas
- Subjects
Adult ,clinical rating scale ,dystonia parkinsonism ,neurodegeneration with brain iron accumulation ,Adolescent ,Mental Disorders ,PKAN ,Reproducibility of Results ,Pilot Projects ,Middle Aged ,Severity of Illness Index ,Dystonia ,Young Adult ,Cross-Sectional Studies ,Ocular Motility Disorders ,Parkinsonian Disorders ,pantothenate kinase-associated neurodegeneration ,Humans ,Cognitive Dysfunction ,Disabled Persons ,Child ,Pantothenate Kinase-Associated Neurodegeneration ,Aged - Abstract
BACKGROUND: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration. METHODS: In this international cross-sectional study, patients were examined at the referral centers following a standardized protocol. The motor examination was filmed, allowing 3 independent specialists in movement disorders to analyze 28 patients for interrater reliability assessment. The scale included 34 items (maximal score, 135) encompassing 6 subscales for cognition, behavior, disability, parkinsonism, dystonia, and other neurological signs. RESULTS: Forty-seven genetically confirmed patients (30 ± 17 years; range, 6-77 years) were examined with the scale (mean score, 62 ± 21; range, 20-106). Dystonia with prominent cranial involvement and atypical parkinsonian features were present in all patients. Other common signs were cognitive impairment, psychiatric features, and slow and hypometric saccades. Dystonia, parkinsonism, and other neurological features had a moderate to strong correlation with disability. The scale showed good internal consistency for the total scale (Cronbach's a = 0.87). On interrater analysis, weighted kappa values (0.30-0.93) showed substantial or excellent agreement in 85% of the items. The scale also discriminated a subgroup of homozygous c.1583C>T patients with lower scores, supporting construct validity for the scale. CONCLUSIONS: The proposed scale seems to be a reliable and valid instrument for the assessment of pediatric and adult patients with pantothenate kinase-associated neurodegeneration. Additional validation studies with a larger sample size will be required to confirm the present results and to complete the scale validation testing. © 2017 International Parkinson and Movement Disorder Society.
- Published
- 2017
18. Freezing of gait and postural instability: the unpredictable response to levodopa in Parkinson’s disease
- Author
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Cristina Januário, Fradique Moreira, and Inês Gomes
- Subjects
Male ,0301 basic medicine ,Levodopa ,medicine.medical_specialty ,Neurology ,Parkinson's disease ,Postural instability ,Poison control ,030105 genetics & heredity ,Antiparkinson Agents ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Postural Balance ,Gait Disorders, Neurologic ,Aged ,Oxadiazoles ,Unexpected Outcome (Positive or Negative) Including Adverse Drug Reactions ,Dose-Response Relationship, Drug ,business.industry ,Catechol O-Methyltransferase Inhibitors ,Paradoxical reaction ,Parkinson Disease ,General Medicine ,medicine.disease ,Gait ,nervous system diseases ,Apomorphine ,Anesthesia ,Sensation Disorders ,business ,030217 neurology & neurosurgery ,medicine.drug - Abstract
Freezing of gait (FOG) and postural instability are challenging motor symptoms that present a serious therapeutic dilemma in Parkinson’s disease. Appropriate distinction between FOG subtypes may be difficult during routine clinical visits, as shown in the case we present. The patient was examined in three different states in relation to levodopa (L-DOPA) and apomorphine subcutaneous (sc) tests with video documentation: (1) ‘overnight-off’, after 12 hours without medication; (2)‘on’, 60 min after intake of regular levodopa dose (200 mg) and 20 min after 2 mg of apomorphine sc; and (3) ‘supra-on’, after 350 mg of L-DOPA and 3 mg of apomorphine sc. The patient clearly showed a dose-dependent paradoxical response to L-DOPA treatment with the emergence of severe FOG and postural instability. The tendency to develop these axial symptoms was less pronounced with apomorphine at doses that achieved similar improvements of other Parkinsonian features.
- Published
- 2019
19. Early-onset oromandibular-laryngeal dystonia and Charlot gait
- Author
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Joana Ribeiro, Filipe Sobral, Fradique Moreira, Ana Morgadinho, Ana Brás, and Cristina Januário
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Spasmodic dysphonia ,Laryngeal Diseases ,03 medical and health sciences ,0302 clinical medicine ,otorhinolaryngologic diseases ,medicine ,Humans ,030212 general & internal medicine ,Gait ,Laryngeal dystonia ,Gait Disorders, Neurologic ,Early onset ,Dystonia ,business.industry ,Parkinsonism ,Histone-Lysine N-Methyltransferase ,medicine.disease ,Bulbar symptoms ,Phenotype ,nervous system diseases ,Dystonic Disorders ,Disease Progression ,Neurology (clinical) ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
A 28-year-old man had spasmodic dysphonia due to focal oromandibular-laryngeal dystonia from the age of 6, evolving rostrocaudally into a particular gait dystonia resembling Charlie Chaplin's Charlot gait (video 1). Recently he developed a progressive worsening of bulbar symptoms and a severe dysarthrophonia. No pyramidal or parkinsonism signs were observed. No intellectual dysfunction was noted. Head MRI was normal. Secondary causes of dystonia were excluded. Dystonia next-generation sequencing panel (58 genes) was negative. The sequencing of KMT2B identified a heterozygous de novo variant c5198-4_5206del(p?)-intron24/exon25, classified as pathogenic. This case expands DYT-KMT2B's clinical phenotype due to early oromandibular-laryngeal involvement and atypical gait dystonia.1,2
- Published
- 2019
20. Transcranial Sonography and DaTSCAN in Early Stage Parkinson's Disease and Essential Tremor
- Author
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Cristina Januário, Maria João Cunha, António Freire, Mário Sousa, Joana Jesus-Ribeiro, Uwe Walter, João Sargento-Freitas, Fradique Moreira, and Fernando de C. da Silva
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Parkinson's disease ,Nortropanes ,Ultrasonography, Doppler, Transcranial ,Essential Tremor ,Diagnostic accuracy ,Sensitivity and Specificity ,Diagnosis, Differential ,03 medical and health sciences ,0302 clinical medicine ,Cohen's kappa ,medicine ,Suspected diagnosis ,Humans ,Stage (cooking) ,Tomography, Emission-Computed, Single-Photon ,Essential tremor ,business.industry ,Parkinson Disease ,medicine.disease ,Surgery ,030104 developmental biology ,Neurology ,Clinical diagnosis ,Neurology (clinical) ,Radiology ,Differential diagnosis ,business ,030217 neurology & neurosurgery - Abstract
Background: The diagnosis of Parkinson's disease (PD) can sometimes be a challenge in the early stages of the disease. Both transcranial sonography (TCS) and DaTSCAN are recommended as auxiliary examinations for the differential diagnosis of PD; however, only few data exist regarding their diagnostic accuracy in the early stage of PD and essential tremor (ET). Methods: We evaluated patients with clinically suspected diagnosis of PD at early stages (Hoehn and Yahr ≤2) or ET. All patients underwent DaTSCAN and TCS with a maximum interval of 6 months. Final diagnosis was established after 1-year follow-up. Results: From the 63 patients recruited, 3 were excluded due to transcranial insonability and 2 for uncertain clinical diagnosis. The final clinical diagnosis was ET in 44.8% and PD in 55.2%. Compared to clinical diagnosis of PD, TCS had a sensitivity of 87.5% and specificity of 96.2%; DaTSCAN sensitivity was 84.4% and specificity was 96.2%. Both diagnostic tests demonstrated a substantial level of agreement (Cohen's kappa coefficient: 0.83, 95% CI 0.68-0.97, p < 0.001). Conclusion: TCS and DaTSCAN have similar diagnostic accuracy for the diagnosis of early stage PD versus ET.
- Published
- 2016
21. Contents Vol. 76, 2016
- Author
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Anne D. Ebert, Felisa Leguizamon, Nola T. Radford, Albrecht Günther, Lei Zhang, Patrick Vermersch, Fradique Moreira, Ning Yu, Joana Jesus-Ribeiro, Michele Augusto Riva, Jianfeng Chu, Otto W. Witte, Stanley Finger, Druckerei Stückle, Sung-Yeon Sohn, Joao Gomes, Soo Joo Lee, Celia Oreja-Guevara, Uwe Walter, Marc E. Wolf, Angelika Alonso, Ari Wachsman, Mónica Perassolo, Chaolai Liu, Lazaros C. Triarhou, J. Celso, Gloria Ortega, Hanna Choi, Jae Guk Kim, Maria João Cunha, Wenjuan Zhao, Rocío N. Villar-Quiles, Zhongrui Yan, Do-Hyung Kim, Anastasios Chatzikonstantinou, Edgar Carnero Contentti, Huakun Liu, Nicolina E. Savvaidou, Zhongping An, Anthony R. Mawson, Martin Freesmeyer, Gabriel R. de Freitas, Axel Karenberg, Kristina Szabo, António Freire, Ivan Rocha Ferreira da Silva, Mário Sousa, Cristina Januário, Binu Jacob, Shengnian Zhou, Fernando de C. da Silva, Yonghong Xing, Inés González-Suárez, Giancarlo Cesana, Jinghua Wang, Javier Pablo Hryb, José Luis Di Pace, Xianjia Ning, Mariana De Virgiliis, Maria Trojano, Heiner Fangerau, Michael Martin, Caterina Mazzocchi, João Sargento-Freitas, Jorge Matías-Guiu, Jordi A. Matías-Guiu, Robert Drescher, and Jose Javier Provencio
- Subjects
Neurology ,Neurology (clinical) - Published
- 2016
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