Clecio Godeiro-Junior

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.

Molecular imaging studies in Parkinson disease: reducing diagnostic uncertainty.

Background:The diagnosis of Parkinson disease (PD) is based on clinical criteria but misdiagnosis is as high as 25% of cases as confirmed by anatomic-pathologic studies. Since the introduction of in vivo molecular imaging techniques using Single-Photon Emission Computed Tomography and Positron Emission Tomography, the diagnosis of PD became more reliable by assessing dopaminergic and even nondopaminergic systems. Review Summary:The purpose of this article is to critically review the current data on molecular neuroimaging focusing on the nigrostriatal circuitry and providing useful information on the role of these new imaging techniques in the management of clinically unclear cases of PD. Conclusions:Patients with essential tremor, psychogenic Parkinsonism or drug-induced Parkinsonism can be differentiated from PD in doubtful situations using molecular imaging techniques evaluating striatal dopamine transporters (DAT). However, in patients with vascular Parkinsonism, atypical Parkinsonism and Parkinsonism associated with dementia DAT scans have less diagnostic usefulness. Scans with non-DAT tracers (ie, D2 dopamine receptors) are necessary together with long-term clinical follow-up, and rescans to improve diagnostic accuracy.

Bilateral horizontal gaze palsy with unilateral peripheral facial paralysis caused by pontine tegmentum infarction.

Clinical features of pontine infarction depend on the topography of vascular lesion and most remarkably sometimes the same topographic region can lead to different clinical syndromes (e.g., dorsal pontine tegmentum). In this report we describe an elderly patient with acute dorsal pontine infarction leading to a unique syndrome of bilateral horizontal gaze palsy and unilateral peripheral facial paralysis. We propose that this syndrome could be included as a part of a continuum that involves one-and-a-half syndrome, eight-and-a-half syndrome, and other variants of pontine tegmentum infarction.

Hemichorea-hemiballism as the first presentation of type 2 diabetes mellitus

Universidade Federal de Sao Paulo (UNIFESP) Movement Disorders Unit Department of Neurology and Neurosurgery

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.

Internal carotid artery dissection presenting as cluster headache

Dr. Clecio Godeiro-Junior – Rua Dr. Diogo de Faria 650 / 33 04037-002 São Paulo SP Brasil. E-mail: cleciojunior@yahoo.com.br Cluster headache (CH) is a clinical entity characterized by strictly unilateral head pain attacks accompanied by ipsilateral autonomic phenomena. The attacks are severe, short-lasting (15–180 minutes), and may occur several times a day. Symptomatic CH cases have been described in association with different kind of lesions located in the middle fossa, near the sellar or parasellar structures although lesions of the internal carotid artery (ICA) were also described: aneurysma of ICA and internal carotid artery dissection (ICAD). We report a patient with symptomatic CH secondary to ICAD, and complete remission of his symptoms with usual treatment for CH. We obtained informed constent from the patient for publication.

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.

LATE-ONSET HEXOSAMINIDASE A DEFICIENCY MIMICKING PRIMARY LATERAL SCLEROSIS

The GM2 gangliosidosis are a group of metabolic disorders in which deficiency of a lysosomal enzyme, hexosaminidase A (Hex A), leads to an abnormal intracellular accumulation of lipids in neurons and glia. Total deficiency is responsible for a fatal infantile disorder, Tay-Sachs disease, characterized by involution in motor abilities, hypotonia, seizures and cortical blindness, with death around 5 or 6 years-old. Partial deficiency of enzyme activity is associated with a variety of late-onset (teenagers and young adults) neurological phenotypes, characterized by upper and lower motor neuron signs, cerebellar disturbances, parkinsonism, and psychosis or dementia in different combinations. Macular cherry red spots, which are typical for Tay-Sachs, are not apparent in these patients. All of the GM2 gangliosidosis subtypes are inherited in an autosomal recessive fashion and the differences in age at onset and disease course may be partly attributed to the underlying Hex A gene defect. Patients with infantile onset tend to be homozygous or compound heterozygote for severe, deleterious (“null”) alleles, whereas patients with late-onset disease have a combination of one severe and another allele associated with residual Hex A activity. Late onset GM2 gangliosidosis (LOGM2) is commonly included in the differential diagnosis of amyotrophic lateral sclerosis (ALS), due to the involvement of anterior horn cell, causing weakness, atrophy, cramps and fasciculations. We report a patient with unusual clinical features of isolated upper motor neuron (UMN) involvement, resembling primary lateral sclerosis (PLS).

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.

PINK1 mutations in a Brazilian cohort of early‐onset Parkinson's disease patients

Data on the frequency of PINK1 mutations in Brazilian patients with early‐onset Parkinsons disease (EOPD) are lacking. The aim of this report was to investigate mutations of the PINK1 gene in a cohort of Brazilian patients with EOPD. Sixty consecutive familial or sporadic EOPD patients were included. All eight PINK1 exons and exon‐intron boundaries were analyzed. We did not find any pathogenic mutation of PINK1 in our cohort. Single Nucleotide Polymorphisms (SNP) were identified in 46.7% of the patients and in 45.9% of controls (P = 0.9). The SNPs identified in our patients had already been described in previous reports. The results of our study support the hypothesis that mutations in PINK1 may not be a relevant cause of EOPD. In Brazil, if we consider only EOPD patients, it seems that parkin and LRRK2 mutations are more common.