Striatal Dopaminergic Functioning in Patients with Sporadic and Hereditary Spastic Paraplegias with Parkinsonism

Sporadic spastic paraplegia (SSP) and hereditary spastic paraplegia (HSP) belong to a clinical and genetically heterogeneous group of disorders characterized by progressive spasticity and weakness in the lower extremities. The symptoms are associated with pyramidal tract dysfunction and degeneration of the corticospinal tracts. Parkinsonism is uncommon in SSP/HSP patients. However, both disorders are associated with damage to the nigrostriatal dopaminergic system. In the present study, the clinical features of patients with SSP/HSP were investigated, and nigrostriatal dopaminergic binding potential was assessed using dopamine transporter (DAT) single-photon emission computer tomography (SPECT). Nine patients with spastic paraplegia participated in the present study. The subjects underwent DAT SPECT using the agent [2-[[2-[[[3-(4-chlorophenyl)-8-methyl-8-azabicyclo[3,2,1]oct-2-yl]methyl](2-mercaptoethyl)amino]ethyl]amino]ethanethiolato (3-)-N2,N20,S2,S20]oxo-[IR-(exo-exo)])-[99mTc]technetium ([99mTc]TRODAT-1). The [99mTc]TRODAT-1 SPECT images of five patients appeared normal, whereas the images of four patients revealed reduced striatal ligand uptake. Among the four patients with reduced uptake, two had parkinsonism, and one exhibited periodic limb movements and restless leg syndrome. Our DAT SPECT imaging study shows that reduced DAT density may be observed in patients with parkinsonism. The results of the present study offer an explanation for the spectrum of spastic paraplegia symptoms and the progression of the disorder.

Frequency of dementia in Parkinson's disease

To assess the frequency of dementia in Parkinson's disease. Study Design:Descriptive study Place and Duration:The study was performed inBolan Medical Complex Hospital, Quetta during Dec 2009 to Jun 2011 [One and half year]. Patients and Methods The purpose of this study was to assess the frequency of dementia in Parkinson's disease. The outdoor patients presented with features of Parkinson's disease were evaluated by using 'UKPDBB' [United Kingdom Parkinson Disease Brain Bank] diagnostic criteria,disease severity assessed by [Hoehn and Yahr scale] and later on they will be assessed for dementia by using 'Mini-Mental Examination'. The exclusion criteria were history of repeated stroke, encephalitis, drug induced Parkinson's disease, drug addiction and brain tumour. The data was collected on structured questionnaire. For descriptive purpose patients were divided into two groups, Parkinson disease [PD] and Parkinson disease with dementia [PDD]. The data was analyzed by SPSS version 17.0. The frequency distribution in number and percentage was calculated.ResultsiThere were 35 patients who presented with the clinical features of Parkinson disease. The features of dementia were found in 6 patients [17%], while 29 patients [83%] remained non-demented. Among demented patients 6 [100%] of Parkinson disease, there were five male [83.3%], while one patient [16.7%] was female.The entire demented patients had started symptoms after the 6th decade.. Regarding functional disability PD group had Hoehn and Yahr score of < 3, while PDD group had > 3. Positive primitive reflexes common in both groups 4 out of 6 in PDD group, while 15 out of 29 in PD group. Mild cognitive impairment was found in 4 [11.4%] patients, not fulfilling the criteria of dementia Dementia in PD was not quite high in our study. Most of the patients had cognitive impairment during their 6th or 7Jh decade of life

New algorithm for the diagnosis of hereditary dystonia / Novo algoritmo para o diagnóstico de distonias hereditárias

Taking into account the crescent interest in the field of dystonia genetics, we have organized a didactic and fast algorithm to diagnose the main forms of hereditary dystonias. The key branch of this algorithm is pointed to dystonia classification in primary, plus, or paroxysmal. The specific characteristics of each syndrome will reveal the diagnosis.

Levando em consideração o interesse crescente no campo da genética das distonias, organizou-se um algoritmo rápido e didático com a finalidade de auxiliar no diagnóstico das principais formas de distonia hereditária. O ramo principal desse algoritmo é a própria classificação da distonia: primária, paroxística, ou plus. As características específicas de cada síndrome podem sugerir o diagnóstico.

Hemiparkinsonism associated with mesencephalic cavernoma: case report and review of literature

Parkinsonism is a movement disorder characterized by resting tremor, slow and decreased movements (hypokinesia and akinesia), rigidity, postural instability, problems with gait, and coordination. Parkinson?s disease (PD) is the most common cause of parkinsonism and its prevalence is estimated to range from 0.1 per cent to 0.3 per cent in the general population and from 1 per cent to 2 per cent in persons 65 years of age or older. Although the majority of cases of PD are describe to be sporadic, many identifiable etiologies have been included as possible causes of parkinsonism, such as genetic disorders, cerebrovascular events and intoxication. However, mesencephalic cavernoma is an extremely rare condition associated to hemiparkinsonism. In the present report, we describe the case of a Brazilian woman that evolved symptoms of hemiparkinsonism and presented a ventral mesencephalic cavernoma on radiological investigation.

O parkinsonismo corresponde a um transtorno do movimento caracterizado por tremores de repouso, redução e lentidão dos movimentos (hipocinesia e acinesia), rigidez, instabilidade postural e problemas relacionados a marcha e coordenação. A doença de Parkinson (DP) é a causa mais comum de parkinsonismo e sua prevalência é estimada em torno de 0,1 por cento a 0,3 por cento em relação à população geral e 1 por cento a 2 por cento em pessoas acima de 65 anos de idade. Embora a maioria dos casos de DP tenha sido descrita como casos esporádicos, muitas etiologias identificáveis foram incluídas como possíveis causas de parkinsonismo, tais como alterações genéticas, eventos cerebrovasculares e intoxicações. No entanto, o cavernoma mesencefálico é uma causa de hemiparkinsonismo extremamente rara. No presente relato, descreve-se o caso de uma mulher brasileira que apresentou sintomas de hemiparkinsonismo relacionados à presença de um cavernoma mesencefálico ventral na investigação radiológica.

Clinical features of dystonia in atypical parkinsonism / Características clínicas da distonia no parkinsonismo atípico

BACKGROUND: The association between Dystonia and Parkinson's 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 percent with 30.4 percent (n=7) in the MSA group, 62.5 percent (n=5) in the PSP group, and 100 percent (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 percent) 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.

INTRODUÇÃO: A associação de distonia e doença de Parkinson (DP) já foi bem estabelecida, principalmente para distonia focal em pé ou mão. Entretanto, há poucos dados quanto a distonia em pacientes com parkinsonismo atípico. OBJETIVO: Avaliar a freqüência e o padrão da distonia em um grupo de pacientes com parkisnonismo atípico (atrofia de múltiplos sistemas - AMS; paralisia supranuclear progressiva - PSP; degeneração corticobasal - DCB) e investigar se a distonia pode ser a manifestação inicial neste grupo. MÉTODO: Um total de 38 prontuários médicos foi revisado (n=23/grupo AMS; n=8/grupo PSP; n=7/grupo PSP) e os dados foram apresentados em médias/desvios padrões. As variaveis avaliadas foram: sexo, idade de início, duração da doença, primeiro sintoma, características clínicas da distonia e outros sinais neurológicos, resposta ao tratamento com levodopa, escala de Hoehn & Yahr >3 em 3 anos de doença, e achados de ressonância magnética. RESULTADOS: A frequência total de distonia em nosso grupo foi 50 por cento, sendo 30,4 por cento (n=7) no grupo AMS, 62.5 por cento (n=5) no grupo PSP e 100 por cento (n=8) no grupo DCB. Em nenhum dos pacientes, distonia foi o primeiro sintoma. Várias apresentações de distonia foram observadas: camptocormia, anterocólis, retrocólis, distonia oromandibular, em pé e mão. CONCLUSÃO: Em nossa série, distonia foi uma característica comum em pacientes com parkinsonismo atípico (freqüência de 50 por cento) e fez parte da história natural em todos os grupos, embora não tenha sido o sintoma inicial em nenhum deles. Anormalidades no exame de neuroimagem não necessariamente estão relacionadas a distonia focal, e o tratamento com levodopa não influenciou o padrão da distonia em nosso grupo de pacientes.

Parkisonism with Shy-Drager syndrome--a case report.

A previously healthy 60 years old female patient presented with bradykinesia, postural instability and increased rigidity of both upper and lower limbs for 2 years and was diagnosed as Parkinsonism for last years. Later on she developed features of autonomic dysfunction including postural hypotension, hyperhydrosis and urinary incontinence so was diagnosed as Shy-Drager Syndrome. She was treated with fludrocortisone and nefidipine for the management of postural hypotension. Patient developed aspiration pneumonia during oral feeding, despite of ICU management for the same cause patient died of respiratory arrest.

Parkinsonism plus syndrome--a review.

Parkinsonism plus syndrome is a group of heterogeneous degenerative neurological disorders, which differ from the classical idiopathic Parkinson's disease in certain associated clinical features, poor response to levodopa, distinctive pathological characteristics and poor prognosis. Associated clinical features include symmetrical onset, infrequent or atypical tremor, prominent rigidity in axial musculature, bradykinesia, early postural instability, supranuclear gaze palsy, early autonomic failure, pyramidal affection, cerebellar involvement, alien limb phenomenon, apraxia and significant early cognitive dysfunction in some cases. Progressive supranuclear palsy (PSP), multiple system atrophy (MSA) and dementia with Lewy body disease (DLB) are commoner disorders. Less frequent disorders are cortico-basal ganglionic degeneration (CBGD), frontotemporal dementia with chromosome 17 (FTDP-17), Pick's disease, parkinsonian-dementia complex of Guam, Pallidonigral degeneration, Wilson's disease and a rigid variant of Huntington's disease. During the last 3 decades, major progress has been made in understanding PSP, CBGD and FTDP-17, which are tau disorders. MSA and DLB together with idiopathic Parkinson's disease are called alpha-synucleinopathies. Recent studies show that the diagnosis of these Parkinsonism plus syndromes improves when strict diagnostic criteria are used. However, unusual presentations may pose a diagnostic challenge. The shortcomings of the current studies demand the need for further research to identify biologic markers that may allow earlier diagnosis, and understanding of the factors leading to alpha-synuclein or tau aggregation. Identification of therapeutic strategies that may prevent the aggregation of these proteins and rescue dysfunctional cells has been stressed. This review focuses on the advances in the clinical, neuroimaging, pathologic, genetic and management aspects of these disorders.