Sonia Maria de Azevedo Silva

Quality of life scale in parkinson's disease PDQ-39 - (Brazilian Portuguese version) to assess patients with and without levodopa motor fluctuation

A qualidade de vida (QdV) e um item importante para se mensurar o sucesso do tratamento na doenca de Parkinson (DP). O objetivo deste estudo foi o de avaliar a utilidade do questionario sobre a doenca de Parkinson - PDQ-39 (versao em lingua portuguesa falada no Brasil) para mensurar a QdV dos pacientes parkinsonianos com e sem flutuacao motora. Nos avaliamos 56 pacientes com DP com tempo medio da doenca de 7,4 anos, e destes 41 (73,3%) apresentavam flutuacao motora. A PDQ-39 tem oito dominios que variam de 0 a 100 e quanto maior o escore pior a QdV. A comparacao dos grupos de pacientes com e sem flutuacao motora mostrou que os dominios: mobilidade, atividades de vida diaria, comunicacao e desconforto corporal tinham escores maiores nos flutuadores. Quanto maiores os estagios de Hoehn e Yahr (HY) da doenca, maiores os escores da PDQ-39. Pacientes com mais de 5 anos de evolucao da doenca mostraram escores piores da PDQ39 apenas nos itens atividades da vida diaria e comunicacao se comparados a pacientes com 5 anos ou menos de doenca. A PDQ-39 e um instrumento capaz de detectar declinio da QdV de pacientes com DP e a presenca de flutuacao motora e um preditor para reducao na QdV.Quality of life (QoL) is an important treatment outcome indicator in Parkinsons disease (PD). The aim of this study is to assess the usefulness of the Parkinsons disease questionnaire--PDQ-39 (Brazilian Portuguese Version) in measuring QoL of PD patients with or without motor fluctuations. Fifty-six PD patients with mean disease duration of 7.4 years were assessed and 41 of them (73.3%) had motor fluctuations. The PDQ-39 has eight dimensions ranging from 0 to 100; being the higher the score, the worse the QoL. Comparing groups with and without motor fluctuations showed that the dimensions mobility, activities of daily living (ADL), communication and bodily discomfort scored higher in the fluctuating group. There was a tendency to see that the higher the Hoehn and Yahr (HY) scale stages, the higher the PDQ-39 scores. Patients suffering from the disease for more than five years had worse PDQ-39 scores only in the items ADL and communication, when compared with those with the disease for < 5 years. The PDQ-39 is an instrument that detects decrease in QoL of PD patients and the presence of motor fluctuations predicts QoL reduction.

Higher dopamine transporter density in Parkinson’s disease patients with depression

RationaleDepression is a frequent non-motor symptom in Parkinson’s disease (PD) with increasing rates with the progression of the disease. Molecular imaging studies have shown a reduction of dopamine transporter (DAT) density in depressed PD patients (dPD); however, DAT role in the pathophysiology of PD depression is not clear since clinical matching was inappropriate and DAT reduction could be attributed to PD severity.ObjectivesTo further examine the role of DAT in PD depression, this study compared thoroughly matched depressed vs. non-depressed PD patients (ndPD).Materials and methodsTwenty PD patients (n = 10 ndPD; n = 10 dPD) matched for age and disease severity were submitted to brain SPECT imaging with [99mTc]-TRODAT-1, a DAT radioligand. DAT-binding potential was calculated using regions of interest bilaterally drawn in the striatum, caudate, and putamen. Depression was defined according to Beck Depression Inventory (BDI; cut-off >18).ResultsMean BDI scores were higher in dPD (25.0 ± 5.6) than in ndPD patients (8.0 ± 1.9, p < 0.0001). DAT density was greater on dPD especially in the left caudate (dPD 0.87 ± 0.19 vs. ndDP 0.69 ± 0.18, p = 0.02) and right putamen (dPD 0.37 ± 0.07 vs. ndPD 0.28 ± 0.13, p = 0.03) than in ndPD patients.ConclusionOur results suggest that in vivo DAT density is increased in dPD patients as compared to ndPD, suggesting that DAT is implicated in the pathophysiology of PD depression.

Genetic and environmental findings in early‐onset Parkinson's disease Brazilian patients

Parkinsons disease (PD) etiology has been attributed both to genetic and environmental factors. In this study, we investigated Brazilian early‐onset PD (EOPD) patients for mutations in PARK2 and PARK8, exposure to environmental factors and possible correlations between PARK2 polymorphisms, environmental exposure, and disease age of onset. We enrolled 72 EOPD index patients and 81 healthy volunteers. Both groups were investigated for environmental exposure. EOPD patients were screened for PARK2 and PARK8 mutations. PARK2 coding polymorphisms Ser167Asn and Val380Leu were investigated in both groups. Mutations were present in 18% of the patients and in 32% of those with a positive family history. PARK2 mutations represented 12.5% and PARK8 mutations accounted for 5.5% of the mutations. A novel PARK2 mutation (D53X) was identified in 2 patients. A positive correlation was found between EOPD and well water drinking. In patients exposed to well water, a later age of onset was observed for those who carried at least one PARK2 380Leu allele. PARK2 mutations have an important role in EOPD Brazilian patients and PARK8 might be the second most important disease causing gene in this group. Well water drinking exposure represents a risk factor for EOPD and the PARK2 coding polymorphism Val380Leu might be interacting with environmental factors acting as a disease modifier.

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.

The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD.

Depression in Parkinson's disease: clinical-epidemiological correlates and comparison with a controlled group of non-parkinsonian geriatric patients

OBJECTIVE To evaluate and compare the frequency and severity of major depression in patients with Parkinsons disease and in individuals older than 60 years without neurological, rheumatological and/or oncological comorbidities. METHOD We studied 50 patients with Parkinsons disease older than 60 years and 50 geriatric patients. Subjects with scores of Mini Mental State Examination indicating cognitive impairment were excluded. We used Diagnostic Statistical Manual of Mental Diseases-IV criteria to diagnose major depression and the Hamilton Depression Scale and the Beck Depression Inventory to rate it. The Unified Parkinsons Disease Rating Scale part 3 and the Hoehn and Yahr Scale were used to evaluate the motor severity of Parkinsons disease. RESULTS Major depression was found in 42% of Parkinsons disease patients and in 10% of the geriatric patients (p < 0.001). The scores of the Hamilton Depression Scale and the Beck Depression Inventory were higher in Parkinsons disease patients (p < 0.001). Depressed Parkinsons disease patients had longer duration of Parkinsons disease (p = 0.020) and higher scores on the Unified Parkinsons Disease Rating Scale part 3 (p = 0.029) and the Yahr Scale (p = 0.027). CONCLUSIONS The frequency (42%) and severity of major depression were higher in Parkinsons disease patients. Longer duration of Parkinsons disease, higher scores on the Unified Parkinsons Disease Rating Scale part 3 and the Hoehn and Yahr Scale were significantly associated with major depression.

Bilateral hemifacial spasm and trigeminal neuralgia : A unique form of painful tic convulsif

alleviated by lightly stroking his inguinal and inframammary areas, which we interpreted as a sensory trick. He reports occasional paresthesias but denies any weakness or morning paralysis. The cramps cause mild dysphagia and shortness of breath. He denies any orthopnea, diplopia, dysarthria, or upper extremity or facial involvement. He has tried muscle relaxants in the past without relief. There is no family history of neuromuscular disorders. He has had diabetes for the past 1.5 years. He has not taken any medications besides metformin. He does not drink alcohol. Mental status, cranial nerves, sensation, posture, and gait were normal. There were no signs of ocular myotonia. Motor examination of neck and extremities were 5/5 with normal tone. There were no signs of fasciculations, atrophy, muscle spasms, or percussion myotonia. Deep tendon reflexes were mildly brisk diffusely, with hyporeflexic ankle jerks and downgoing toes. CPK was normal and anti-GAD antibodies were absent. Electromyography (EMG) of the right rectus abdominis, superior oblique, and external intercostals demonstrated normal motor units without any denervation potentials, myotonic discharges, or neuromyotonia. Applying ice and abdominal exercises did not provoke any abnormalities. Interestingly, motor unit recruitment was present during active (but not passive) stretching of abdominal muscles by trunk extension, suggesting co-contraction of axial muscles, supporting the diagnosis of dystonia. We prescribed clonazepam as needed, to which his symptoms had responded. To our knowledge, this is the first reported case of occupational dystonia involving the truncal muscles, and that in a bricklayer. The deliberate strong, repeated contraction of abdominal muscles against resistance while bricklaying seems to have led to the dystonia. The EMG provided evidence of co-contraction of abdominal and axial muscles during back extension. Isolated truncal involvement has been described in tardive dystonia1 or idiopathic primary truncal dystonia.2 Botulinum toxin is the treatment of choice for writer’s cramp and other occupational dystonias3; however, due to the widespread involvement, we had initially chosen an oral muscle relaxant.

Clinical features of dystonia in atypical parkinsonism

BACKGROUND The association between Dystonia and Parkinsons disease (PD) has been well described especially for foot and hand dystonia. There is however few data on dystonic postures in patients with atypical parkinsonism. OBJECTIVE To evaluate the frequency and pattern of dystonia in a group of patients with atypical parkinsonism (multiple system atrophy - MSA, progressive supranuclear palsy - PSP, and corticobasal degeneration - CBD) and to investigate whether dystonia could be the first presenting symptom at disease onset in those patients. METHOD A total of 38 medical charts were reviewed (n=23/MSA group; n=7/CBD group; n=8/PSP group) and data values were described as means/standard deviations. The variables evaluated were sex, age at onset, disease duration, first symptom, clinical features of dystonia and other neurological signs, response to levodopatherapy, Hoehn &Yahr -scale >3 after three years of disease, and magnetic resonance imaging findings. RESULTS The overall frequency of dystonia in our sample was 50% with 30.4% (n=7) in the MSA group, 62.5% (n=5) in the PSP group, and 100% (n=8) in the CBD group. In none of these patients, dystonia was the first complaint. Several types of dystonia were found: camptocormia, retrocollis, anterocollis, blepharoespasm, oromandibular, and foot/hand dystonia. CONCLUSION In our series, dystonia was a common feature in atypical parkinsonism (overall frequency of 50%) and it was part of the natural history although not the first symptom at disease onset. Neuroimaging abnormalities are not necessarily related to focal dystonia, and levodopa therapy did not influence the pattern of dystonia in our group of patients.INTRODUCAO: A associacao de distonia e doenca de Parkinson (DP) ja foi bem estabelecida, principalmente para distonia focal em pe ou mao. Entretanto, ha poucos dados quanto a distonia em pacientes com parkinsonismo atipico. OBJETIVO: Avaliar a frequencia e o padrao da distonia em um grupo de pacientes com parkisnonismo atipico (atrofia de multiplos sistemas - AMS; paralisia supranuclear progressiva - PSP; degeneracao corticobasal - DCB) e investigar se a distonia pode ser a manifestacao inicial neste grupo. METODO: Um total de 38 prontuarios medicos foi revisado (n=23/grupo AMS; n=8/grupo PSP; n=7/grupo PSP) e os dados foram apresentados em medias/desvios padroes. As variaveis avaliadas foram: sexo, idade de inicio, duracao da doenca, primeiro sintoma, caracteristicas clinicas da distonia e outros sinais neurologicos, resposta ao tratamento com levodopa, escala de Hoehn & Yahr >3 em 3 anos de doenca, e achados de ressonância magnetica. RESULTADOS: A frequencia total de distonia em nosso grupo foi 50%, sendo 30,4% (n=7) no grupo AMS, 62.5% (n=5) no grupo PSP e 100% (n=8) no grupo DCB. Em nenhum dos pacientes, distonia foi o primeiro sintoma. Varias apresentacoes de distonia foram observadas: camptocormia, anterocolis, retrocolis, distonia oromandibular, em pe e mao. CONCLUSAO: Em nossa serie, distonia foi uma caracteristica comum em pacientes com parkinsonismo atipico (frequencia de 50%) e fez parte da historia natural em todos os grupos, embora nao tenha sido o sintoma inicial em nenhum deles. Anormalidades no exame de neuroimagem nao necessariamente estao relacionadas a distonia focal, e o tratamento com levodopa nao influenciou o padrao da distonia em nosso grupo de pacientes.

The functional assessment Berg Balance Scale is better capable of estimating fall risk in the elderly than the posturographic Balance Stability System

The purpose of this study was to verify which instrument better identifies recurrent falls in the elderly. Ninety-eight old people, with an average age of 80 ± 4 years, were submitted to an assessment of balance and fall risk by means of the Berg Balance Scale (BBS) and the posturographic Balance Stability System (BSS). The BBS was correlated with the BSS (r=-0.27; p=0.008), age (r=-0.38; p<0.001) and number of falls (r=-0.25; p=0.013) and the analysis of logistical regression showed that the elderly classified with fall risk on the BBS presented 2.5 (95%CI 1.08-5.78) more chance of identifying who had two falls or more over the last year. The BBS identified that the greater the age the worse the functional balance and demonstrated a greater capacity to identify falls risk suffered over the last year when compared with the BSS.

Clinical assessment of patients with primary and postparalytic hemifacial spasm: a retrospective study

OBJECTIVE To compared the clinical features of 373 patients with primary and postparalytic hemifacial spasm (HFS). METHOD Data analyzed were gender, ethnicity, age at symptom onset, disease duration, affected side, distribution of facial spasm at onset, hypertension, family history of HFS, previous history of facial palsy and latency between facial palsy and HFS. RESULTS The prevalence of patients with Asian origin was similar in both groups such as female/male ratio, mean age at symptom onset, disease duration, affected side and distribution at onset of facial twitching. The upper left side of the face was the main affected region at onset. Almost 40% of the patients in both groups had hypertension. A prevalence of vascular abnormalities on the posterior fossa was seen in 7% and 12.5% of both groups. CONCLUSION The clinical profile and radiological findings of patients with primary and postparalytic HFS are similar. The association of hypertension with vascular abnormalities and HFS was not frequent.

Hemifacial spasm in a patient with neurofibromatosis and Arnold-Chiari malformation: a unique case association

BACKGROUND The association of hemifacial spasm (HFS), Chiari type I malformation (CIM) and neurofibromatosis type 1 (NF1) has not been described yet. CASE REPORT We report the case of a 31-year-old woman with NF1 who developed a right-sided HFS. On magnetic resonance imaging (MRI) a CIM was seen without syringomyelia. The patient has been successfully treated with botulinum toxin type A injections for 5 years without major side effects. CONCLUSION Clinical features of HFS, CMI and NF1 are highlighted together with their possible relationship. Also, therapeutic strategies are also discussed.