A5050212994- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Transcranial Magnetic Stimulation Studies
- Neurological diseases and metabolism
- Balance, Gait, and Falls Prevention
- Genetics and Neurodevelopmental Disorders
- Obsessive-Compulsive Spectrum Disorders
- Cerebrovascular and genetic disorders
- Drug-Induced Adverse Reactions
- RNA regulation and disease
- Yersinia bacterium, plague, ectoparasites research
- Subtitles and Audiovisual Media
- Antifungal resistance and susceptibility
- Speech and dialogue systems
- Neurological and metabolic disorders
- Congenital heart defects research
- Genetic and phenotypic traits in livestock
- Musculoskeletal Disorders and Rehabilitation
- Neural and Behavioral Psychology Studies
- Vector-borne infectious diseases
- Parathyroid Disorders and Treatments
- Botulinum Toxin and Related Neurological Disorders
- Genomic variations and chromosomal abnormalities
- Hereditary Neurological Disorders
Hospitais da Universidade de Coimbra
2015-2022
University of Coimbra
2017-2021
Hospital Alvorada
2001
<b><i>Background/Aims:</i></b> Apathy is one of the most frequent, disabling and difficult-to-treat symptoms that show up in many neurodegenerative disorders. The aim this study was to assess compare apathy profile Parkinson’s Huntington’s patients using same comprehensive instruments measure apathy, cognition depressive symptoms. <b><i>Materials Methods:</i></b> We consecutively assessed disease (PD) (HD) recruited from a Movement Disorders...
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 renders their statistical classification challenge. The unique combination structural molecular data allowed different classifier designs to be tested. Datasets from PET MRI scans were acquired six groups participants. There...
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 pilot‐test disease‐specific clinical rating scale for the assessment patients with pantothenate neurodegeneration. Methods In international cross‐sectional study, were examined at referral centers following standardized protocol. motor examination filmed, allowing 3 independent specialists movement...
Background: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) is used in treatment advanced Parkinson’s disease (PD) with well-established benefits over motor complications. However, few studies addressing impact DBS on nonmotor dimensions such as sexual function have been conducted. This study aims to determine effect DBS-STN activity patients PD and establish predictive factors for decline after surgery. Materials Methods: Twenty-one submitted were compared 19 eligible surgery...
Impulse control disorders (ICD) may occur in Parkinson's disease (PD) although it remains to be understood if such deficits even the absence of a formal ICD diagnosis. Moreover, studies addressing simultaneously distinct neurobehavioral domains, as cognitive, proactive and reactive motor impulsivity, are still lacking. Here, we aimed investigate reactive, cognitive impulsivity involving risk taking concomitantly affected medicated PD patients, whether were dependent on response strategies,...
<b><i>Background:</i></b> The diagnosis of Parkinson's disease (PD) can sometimes be a challenge in the early stages disease. Both transcranial sonography (TCS) and DaTSCAN are recommended as auxiliary examinations for differential PD; however, only few data exist regarding their diagnostic accuracy stage PD essential tremor (ET). <b><i>Methods:</i></b> We evaluated patients with clinically suspected at (Hoehn Yahr ≤2) or ET. All underwent TCS...
A growing amount of evidence indicates that 22q11.2 deletion syndrome (22q11.2DS) increases the risk early-onset Parkinson’s disease (EOPD). Here, we describe a 36-year-old patient with EOPD. The presented 22q11.2DS features, including associated cognitive disabilities, hypocalcaemia and facial dysmorphia led us to screen for confirm this deletion. In addition, vitamin D deficiency were main factors responsible severe, painful muscle spasms non-levodopa (L-Dopa) responsive remitted after...
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 resembling Charlie Chaplin's Charlot (video 1). Recently he developed progressive worsening bulbar symptoms and severe dysarthrophonia. No pyramidal or parkinsonism signs were observed. intellectual dysfunction was noted. Head MRI normal. Secondary causes excluded. Dystonia next-generation sequencing panel (58 genes) negative. The KMT2B...
Neurological manifestations of Lyme disease are reported in 3% - 12% patients, with the most common form presentation being meningoradiculitis. Other symptoms involving central nervous system, such as myelitis or encephalitis, rare (< 5 %). We report a case 66-year-old male, subacute extensive transverse myelitis, secondary to Borrelia burgdorferi infection. The patient underwent antibiotic therapy filed for neuroborreliosis good clinical outcome. rareness and imaging presentation, based on...
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 the case we present. The patient was examined three different states relation to levodopa (L-DOPA) apomorphine subcutaneous (sc) tests with video documentation: (1) ‘overnight-off’, after 12 hours without medication; (2)‘on’, 60 min intake regular...
A genetic etiology of isolated dystonia is suspected if there an early-onset or a positive family history. However, the current overall yield etiological diagnosis remains below 30%.1 We present case 13-year-old Caucasian male, only child from non-consanguineous couple, without history neurological diseases, with no previous medical history, and normal psychomotor development. At age 8, he started developing involuntary twisting movements that resulted in abnormal postures, first affecting...
Non-motor symptoms are underrecognized features of Parkinson's disease that impair quality life and increase mortality. In this study, we aim to translate, adapt validate the European Portuguese version "Non-Motor Symptoms Questionnaire", which has proven be a valid reliable measurement tool non-motor in other languages.Acceptability was evaluated regarding range values, ceiling floor effects. Reliability measured terms internal consistency (Cronbach's alpha) reproducibility (intra-class...
Pathological basal ganglia calcification, or Fahr's Syndrome, can be secondary to a variety of diseases, namely parathyroid disturbances. Movement disorders are common clinical features, in which chorea is seen less than 20% cases and dystonia just 8%. We report the case 49-year-old male with history thyroidectomy, who was admitted Emergency Service acute generalized focal painful feet dystonia. Laboratory analysis showed hypocalcemia rhabdomyolysis, computed tomography scan revealed...
Deep brain stimulation (DBS) is a well-established surgical treatment for Parkinson’s disease. Peri-lead edema (PLE) poorly understood complication of DBS. We hereby report three cases unilateral PLE after bilateral subthalamic nucleus (STN)-DBS and discuss its diagnosis management. Patient 1 reported new-onset headache one month his procedure. Antibiotic was administered. His complaint resolved two days later. 2 presented in an acute confusional state on the seventh post-operative day. He...
OBJECTIVE: To compare the motor, cognitive and behavioral profile of Huntington Disease (HD) patients according to two quantitative indicators disease course: onset first motor symptoms years evolution. BACKGROUND: HD is caused by a dominantly transmitted CAG repeat expansion mutation that believed confer toxic gain function on mutant protein. length inversely correlated with age onset. METHODS: The study included 60 Portuguese patients, integrating vast European prospective observational...