Unusual motor and non-motor symptoms and signs in the early stage of Parkinson's disease / Sintomas e sinais motores e não motores pouco comuns na fase inicial da doença de Parkinson

ABSTRACT Objective Patients with Parkinson’s disease (PD) may present with unusual motor and non-motor symptoms and signs in the early stage of the disease. Methods Cases were collected over a five-year period at two tertiary movement disorders clinics. All had a diagnosis of PD with unusual presentations defined retrospectively as the presence of complaints not objectively related to any of the classic cardinal signs of parkinsonism or the typical early non-motor features of PD. Results A total of 15 early PD patients fulfilled the proposed criteria, presenting with symptoms such as atypical tremors, shoulder pain, signs related to the rigid akinetic syndrome, as well as cases of asthenia, rhinorrhea, parosmia, dysgeusia, nocturnal sialorrhea, and color discrimination disorders. Conclusions Unusual motor and non-motor symptoms and signs in the early stage of PD can be difficult to interpret. Specialists should be aware of these conditions as clues to a potential diagnosis.

RESUMO Objetivo Pacientes com doença de Parkinson (DP) podem apresentar sintomas e sinais motores e não motores pouco comuns na fase inicial da doença. Métodos Os casos foram coletados em um período de cinco anos, em dois centros terciários de distúrbios do Movimento. Todos os pacientes tinham o diagnóstico de DP com apresentações clínicas iniciais pouco comuns. Resultados Um total de 15 pacientes com DP na fase inicial, apresentando sintomas e sinais tais como, tremores atípicos, dor no ombro, sinais relacionados com a síndrome rígido-acinética, bem como casos com astenia, rinorréia, parosmia, disgeusia, sialorréia noturna e distúrbios da discriminação de cores. Conclusões Sintomas e sinais motores e não motores pouco comuns na fase inicial da DP podem ser de difícil interpretação. Neurologistas devem estar a par destas condições, como pistas para o potencial diagnóstico.

Electrophysiologic characteristics of tremor in Parkinson?s disease and essential tremor / Características eletrofisiológicas do tremor na Doença de Parkinson e tremor essencial

Tremor in essential tremor (ET) and Parkinson’s disease (PD) usually present specific electrophysiologic profiles, however amplitude and frequency may have wide variations. Objective: To present the electrophysiologic findings in PD and ET. Method: Patients were assessed at rest, with posture and action. Seventeen patients with ET and 62 with PD were included. PD cases were clustered into three groups: predominant rest tremor; tremor with similar intensity at rest, posture and during kinetic task; and predominant kinetic tremor. Results: Patients with PD presented tremors with average frequency of 5.29±1.18 Hz at rest, 5.79±1.39 Hz with posture and 6.48±1.34 Hz with the kinetic task. Tremor in ET presented with an average frequency of 5.97±1.1 Hz at rest, 6.18±1 Hz with posture and 6.53±1.2 Hz with kinetic task. Seven (41.2%) also showed rest tremor. Conclusion: The tremor analysis alone using the methodology described here, is not sufficient to differentiate tremor in ET and PD. .

Os tremores observados no tremor essencial (TE) e na doença de Parkinson (DP) costumam apresentar perfis eletrofisiológicos específicos, embora amplitude e frequência possam ter grandes variações. Objetivo: Apresentar os resultados dos exames eletrofisiológicos na DP e no TE. Método: Pacientes foram avaliados em repouso, com postura e em ação. Foram incluídos 17 pacientes com TE e 62 com DP. Casos de DP foram divididos em três grupos: predomínio de tremor de repouso; tremor com intensidade semelhante em repouso, postura e tarefa cinética e tremor cinético predominante. Resultados: Pacientes com DP apresentaram tremores com frequência média de 5,29±1,18 Hz em repouso, 5,79±1.39 Hz com postura e 6,48±1,34 Hz com tarefa cinética. Tremor no TE apresentou frequência média 5,97±1,1Hz em repouso, 6,18±1Hz com postura e 6,53±1,2 Hz com tarefa cinética. Sete (41,2%) também apresentaram tremor de repouso. Conclusão: A análise do tremor per se, usando os métodos descritos neste estudo, não é suficiente para diferenciar o tremor no TE e DP. .

Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease)

OBJECTIVE: To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedy's disease. METHODS: Ten patients (from 7 families) with a genetic diagnosis of Kennedy's disease were screened for the presence of tremor using a standardized clinical protocol and followed up at a neurology outpatient clinic. All index patients were genotyped and showed an expanded allele in the androgen receptor gene. RESULTS: Mean patient age was 37.6 years and mean number of CAG repeats 47 (44-53). Tremor was present in 8 (80 percent) patients and was predominantly postural hand tremor. Alcohol responsiveness was detected in 7 (88 percent) patients with tremor, who all responded well to treatment with a β-blocker (propranolol). CONCLUSION: Tremor is a common feature in patients with Kennedy's disease and has characteristics similar to those of essential tremor.

Retrocollis, anterocollis or head tremor may predict the spreading of dystonic movements in primary cervical dystonia / Retrocolis, anterocolis ou tremor cefálico podem predizer a progressão dos movimentos distônicos em pacientes com distonia cervical primária

BACKGROUND AND PURPOSE: Few studies have attempted to develop clinical predictors for cervical dystonia (CD) aiming at progression of the dystonic movement. METHOD: We retrospectively evaluated 73 patients with primary CD who underwent treatment with Botulinum toxin type-A (BTX-A). The patients were assembled in two groups according to the spread of dystonia during follow-up: spreading and non-spreading CD. We performed a binary logistic regression model using spreading of cervical dystonia as dependent variable aiming to find covariates which increase the risk of spreading. RESULTS: Our logistic regression model found the following covariates and their respective risk ratios: time of disease >18.5 months=2.4, retrocollis=1.9, anterocollis=1.8, head tremor=1.6. CONCLUSION: Time of disease >18.5 months, retrocollis, anterocollis and head tremor may predict spreading of dystonic movement to other regions of the body in CD patients.

INTRODUÇÃO: Poucos estudos avaliam preditores clínicos de progressão dos movimentos distônicos, para além da região cervical, em pacientes com distonia cervical (DC) primária. MÉTODO: Avaliamos, retrospectivamente, 73 pacientes com DC primária, que tinham sido submetidos ao tratamento com a toxina botulínica tipo A (BTX-A). Estes pacientes foram divididos em dois grupos de acordo com a progressão ou não da DC para outras áreas do corpo. Aplicamos um modelo de regressão logística binária usando a progressão da distonia como variável dependente com o objetivo de identificar co-variáveis que aumentassem o risco de progressão. RESULTADOS: O modelo de regressão logístico identificou as seguintes co-variáveis como preditoras de progressão e seus respectivos índices de risco: tempo de doença >18,5 meses=2,4, retrocolis=1,9, anterocolis=1,8, tremor cefálico=1,6. CONCLUSÃO: Tempo de doença >18,5 meses, retrocolis, anterocolis, e tremor cefálico podem predizer a progressão do movimento distônico para outras regiões do corpo em pacientes com DC primária.

Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism

A late onset neurological syndrome in carriers of premutation in FMR1 gene was recently described. The condition was named fragile-X-associated tremor/ataxia syndrome (FXTAS) and includes intentional tremor, cerebellar ataxia, parkinsonism, and cognitive deficit. We ascertained the contribution of FMR1 premutation to the phenotypes ataxia, tremor and/or parkinsonism. Sixty-six men over 45 years old presenting these symptoms, isolated or combined, were tested. Also, 74 normal men, randomly chosen in the population, formed the control group. In the patient group, no premutation carrier was found, which is in agreement with other observed frequencies reported elsewhere (0-5% variation). No significant differences were found when comparing gray zone allele frequencies among target and control groups. The FXTAS contribution in patients with phenotypic manifestations of FXTAS was 15/748 (2%). The presence of gray zone alleles is not correlated with FXTAS occurrence.

Trace elements and flapping tremors in patients with liver cirrhosis. Is there a relationship?

To investigate the possible correlation between hepatic flapping tremors and serum manganese Mn, iron Fe, zinc Zn, and copper Cu. This case control study was carried out in Assiut University Hospital, Assiut, Egypt from June 2006 to June 2007. It included 100 patients with liver cirrhosis, 78 had flapping tremor, and 22 had not, and 60 healthy controls. All patients were subjected to assessment of serum Mn, total Fe, total iron binding capacity TIBC, Zn, and Cu. Assessment of hepatic encephalopathy was carried out using a battery of cognitive function tests. All patients had electroencephalography and MRI of the brain.Compared to healthy controls, patients showed increase in Mn p<0.0001, Cu p<0.05 and decrease in TIBC p<0.000, Zn p<0.05. Eighty-two percent of patients had minimal hepatic encephalopathy mHE. In 85%, MRI-brain showed bilateral hyperintense substantia nigra and globus pallidus on T1-weighted images. A significant positive correlation was present between tremors and severity of liver dysfunction, mHE and serum Cu, and negative correlation with total Fe, TIBC, and Zn. Altered homeostasis of Mn and other minerals could be responsible for the pathophysiology of cognitive deficits associated with liver cirrhosis, but not with flapping tremors. The exact pathogenic role and possibilities for therapeutic implications need further study

Ficha de orientación diagnóstica Nº 8: formas inusuales de temblor muscular / Diagnostic orientation Nº8: unusual forms of muscle tremor

En los últimos años se han descrito varias formas de temblor muscular, infrecuentes y a veces de difícil diagnóstico, que analizaremos

Tremor da escrita: relato de caso / Writing tremor: report of a case

O tremor da escrita é distúrbio precipitado por atividade motora específica, geralmente a escrita. Analisamos este caso sob o ponto de vista clínico e terapêutico. O paciente apresentava tremor ao escrever tornando sua letra ilegível; sem qualquer outra alteraçäo neurológica. Näo havia antecedentes familiares, metabólicos, endócrinos, iatrogênicos, tóxicos ou traumáticos. No manuseio terapêutico näo ocorreu resposta satisfatória ao propranolol, sendo discreta à primidona. A introduçäo de anticolinérgicos (tri-hexifenidil) evidenciou certa melhora na sintomatologia, com reduçäo do tremor no momento da escrita

Role of selegiline as initial monotherapy in early Parkinson's disease.

Twenty patients of Idiopathic Prakinson's disease in the early phase were enrolled to study the efficacy and safety of selegiline as monotherapy. The mean duration of time before levodopa had to be initiated was 9.75 months. The UPDRS scores for activities of daily living, motor examination, tremor and total score showed significant improvement initially with subsequent worsening. Selegiline was well tolerated and there were no serious side-effects. In conclusion, selegiline may have a short lasting symptomatic effect in IPD and is well tolerated.