Hemicoreia na infância: revisão da literatura com relato de caso / Hemichorea in childhood: literature review with case report

O diagnóstico etiológico de quadros coréicos é amplo e algumas características da apresentação auxiliam no raciocínio diagnóstico, como o tempo de instalação do quadro (agudo/crônico), a distribuição corporal (focal/generalizada) e sintomas associados. Na infância, a principal causa da forma aguda é a coreia de Sydenham. Descrevemos o caso de uma paciente do sexo feminino de 13 anos que apresentou hemicoreia de instalação aguda relacionada a febre reumática, sendo a manifestação dimidiada atípica nesta condição.

There are numerous causes of chorea, and some characteristics of the presentation of this symptom help in the diagnosis reasoning, such as the onset time of the condition (acute/chronic), body distribution (local/generalized), and associated symptoms. In childhood, the main cause of acute chorea is Sydenham chorea. In childhood, the main cause of the acute form is Sydenham chorea. We report a case of a 13-year-old female patient who presented with acute onset hemichorea, being diagnosed with Sydenham's chorea.

Dupuytren, Ledderhose, and Peyronie Diseases After Primidone Use For Essential Tremor.

INTRODUCTION: Dupuytren, Ledderhose, and Peyronie diseases are chronic fibrotic conditions related to progressive fibrosis of the palmar fascia, plantar fascia, and tunica albuginea, respectively. These conditions have been associated with antiepileptic drug use, mainly phenobarbital and primidone. CASE REPORT: A 71-year-old man developed simultaneous Dupuytren, Ledderhose, and Peyronie diseases after primidone use for essential tremor. CONCLUSIONS: There are a few reports associating barbiturate use to connective tissue disorders, and some suggest that drug withdrawal may result in a better prognosis. Therefore, physicians must be aware of such adverse events when caring for patients on long-term barbiturate use.

Mild cognitive impairment in Parkinson's disease: Characterization and impact on quality of life according to subtype.

AIM: Mild cognitive impairment (MCI) was initially described as a risk factor for Alzheimer's disease. Because of differences in baseline cognitive abilities, MCI in Parkinson's disease (PD; PD-MCI) requires distinct neuropsychological criteria for diagnosis and follow up. In addition to representing a risk factor for PD-related dementia, PD-MCI results in higher morbidity, which can be reduced through early detection. The aim of the present study was to gather data regarding MCI subtypes from neuropsychological profiles and clinical features in PD patients, to evaluate its impact on patients' quality of life according to subtype, and to compare the data with a control (Co) group. METHOD: A total of 149 individuals were selected: 81 controls and 60 patients diagnosed with PD according to the United Kingdom Parkinson's Disease Society Brain Bank criteria. All individuals were submitted to neurological and neuropsychological assessments. RESULTS: The amnestic subtype of MCI was the most common in both the PD and Co groups. PD patients showed greater impairment in MCI than the Co group. The amnestic subtype of PD-MCI was associated with a lower quality of life compared with the non-amnestic group. CONCLUSIONS: The PD group showed worse cognitive performance than the Co group. The amnestic subtype of PD-MCI was associated with the greatest impairment of quality of life. Geriatr Gerontol Int 2019; 19: 497-502.

CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease.

Robust evidence on the involvement of genetic factors in the etiology of Parkinson's disease (PD) expands our knowledge about monogenic causes that contribute for this important neurodegenerative disorder. Mutations in the CHCHD2 gene have been linked to autosomal dominant forms of PD, although there is still lack of evidence for CHCHD2 variants leading to the disease in mixed populations as those from South America. To assess the contribution of CHCHD2 as a causal factor for familial PD in Brazil, one of the most heterogeneous populations in the world, we conducted the first molecular analysis of the CHCHD2 gene in a cohort of 122 index cases from Brazilian families with autosomal dominant forms of PD. Genomic DNA was isolated from peripheral blood and the 4 exons of the CHCHD2 gene, and their intron-exon boundaries were analyzed by bidirectional Sanger sequencing. No pathogenic or risk variants were found, suggesting that genetic variants of CHCHD2 are not a common cause of familial PD in Brazilian patients.

Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.

BACKGROUND: Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be differentially modified by genetic factors, as mutations in LRRK2 and GBA genes. In this sense, the clarification of the genotype-phenotype correlations in PD has important implications in predicting prognosis and can contribute to the development of specific therapeutic approaches. METHODS: Here, we conducted the first comparative analysis of motor and non-motor features in 17 LRRK2 and 22 GBA mutation carriers and 93 non-carriers unrelated PD patients from Brazil, a highly admixed population. RESULTS: Significant differences were found between the three groups. LRRK2 PD patients presented more occurrence of familiar history. Resting tremor was observed in a lower frequency in GBA mutation carries. In contrast, gait freezing and dysautonomia was present in lower frequencies in LRRK2 carriers. Besides that, LRRK2 and GBA mutation carriers showed a higher incidence of depressive symptoms and a younger age at onset, when compared to non-carriers. CONCLUSION: Our results suggest that specific mutations in GBA and LRRK2 influence the clinical signs of the disease, with significant implications for handling of specific patient groups.

Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil.

INTRODUCTION: Amongst Parkinson's disease (PD) genetic factors, mutations in LRRK2, SNCA, VPS35 and GBA genes are recognized causes of PD. Nonetheless, few genetic screenings have been conducted in families with a history of PD consistent with autosomal dominant inheritance (ADPD), and their relevance to the etiology of PD has been poorly explored in Latin American populations, such as the Brazilian one, with a high degree of admixture. METHODS: In order to assess the contribution of specific mutations in LRRK2, SNCA, VPS35 and GBA genes to ADPD in Brazil, we conducted the first molecular evaluation in a cohort of 141 index cases from families with ADPD. Genomic DNA was isolated from peripheral blood or saliva, and the molecular analysis was performed by TaqMan allelic discrimination assays or bidirectional sequencing. RESULTS: Heterozygous mutations in LRRK2 and GBA genes were identified in 10 (7.0%) probands, and all presented typical signs of classical PD. No mutations were found in SNCA or VPS35 genes. CONCLUSION: Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. The absence of mutations in VPS35 and SNCA genes reveals that they are uncommon causes of PD in Brazil, corroborating previous studies that also failed to detect these genetic variants in PD patients from other populations. Recent discoveries of novel causative genes of autosomal dominant forms of PD expand the investigative possibilities and should be targeted on future studies.

Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation.

BACKGROUND: Amongst Parkinson's disease-causing genetic factors, missense mutations and genomic multiplications in the gene encoding α-synuclein are well established causes of the disease, although genetic data in populations with a high degree of admixture, such as the Brazilian one, are still scarce. METHODS: In this study, we conducted a molecular screening of α-synuclein point mutations and copy number variation in the largest cohort of Brazilian patients with Parkinson's disease (n = 549) and also in twelve Portuguese and one Bolivian immigrants. Genomic DNA was isolated from peripheral blood leukocytes or saliva, and the mutational screening was performed by quantitative and qualitative real-time PCR. RESULTS: The only alteration identified was the p.E46K mutation in a 60-year-old man, born in Bolivia, with a familial history of autosomal dominant Parkinson's disease. This is the second family ever reported, in which this rare pathogenic mutation is segregating. The same mutation was firstly described ten years ago in a Spanish family with a neurodegenerative syndrome combining parkinsonism, dementia and visual hallucinations. The clinical condition of our proband reveals a less aggressive phenotype than previously described and reinforces that marked phenotypic heterogeneity is common among patients with Parkinson's disease, even among those carriers sharing the same mutation. CONCLUSION: Our findings add new insight into the preexisting information about α-synuclein p.E46K, improving our understanding about the endophenotypes associated to this mutation and corroborate that missense alterations and multiplications in α-synuclein are uncommon among Brazilian patients with Parkinson's disease.

Organophosphate-induced delayed neuropathy: case report

Organophosphate induced delayed neuropathy (OPIDN) is an uncommon clinical condition. It occurs in association with the ingestion of great amounts of organophosphate after the stimulation of cholinergic receptor. The clinical picture is characterized by a distal paresis in lower limbs associated with sensitive symptoms. Electrodiagnostic studies show a motor axonal neuropathy. Involvement of the central nervous system may occur. We describe a 39 years-old female patient who developed hyperesthesia associated with lower limbs paresis, fourteen days after she had ingested a Dichlorvos-based insecticide. Electrophysiological study was characterized by an axonal polyneuropathy pattern. Pyramidal tract dysfunction was observed later in upper limbs. Considering that both peripheral and central nervous systems are involved we believe that the more appropriated term would be organophosphate induced delayed neuropathy (OPIDN) instead of organophosphate induced delayed polyneuropathy (OPIDP)

Tratamento farmacológico da doença de Parkison: os inibidores da COMT / Pharmacological treatment of Parkinson' disease: the COMT inhibitors

A doença de Parkinson idiopática (DP) é um dos problemas neurológicos mais frequentes. Apesar de ainda não ter cura, existem numerosos recursos para obter controle sintomático prolongado. Entre as drogas existentes, os inibidores da catecol-O-metiltransferase (COMT), como adjuntivas à levodopa, se constituem em importante opção terapêutica dessa doença. A presente revisão tem por objetivo apresentar os fundamentos neurobiológicos, principalmente em relação ao metabolismo da dopamina em condições normais e patológicas, assim como as características dos inibidores da COMT. Espera-se que uma melhor compreensão da ação desse grupo de drogas permita sua utilização mais adequada, visando a um melhor controle das manifestações típicas da doença, em suas diversas fases, assim como prevenir ou atenuar as frequentemente incapacitantes complicações motoras (flutuações, discinesia)

Organophosphate-induced delayed neuropathy: case report.

Organophosphate induced delayed neuropathy (OPIDN) is an uncommon clinical condition. It occurs in association with the ingestion of great amounts of organophosphate after the stimulation of cholinergic receptor. The clinical picture is characterized by a distal paresis in lower limbs associated with sensitive symptoms. Electrodiagnostic studies show a motor axonal neuropathy. Involvement of the central nervous system may occur. We describe a 39 years-old female patient who developed hyperesthesia associated with lower limbs paresis, fourteen days after she had ingested a Dichlorvos-based insecticide. Electrophysiological study was characterized by an axonal polyneuropathy pattern. Pyramidal tract dysfunction was observed later in upper limbs. Considering that both peripheral and central nervous systems are involved we believe that the more appropriated term would be organophosphate induced delayed neuropathy (OPIDN) instead of organophosphate induced delayed polyneuropathy (OPIDP).

Tratamento farmacológico da doença de Parkinson: agonistas dopaminérgicos diretos / Pharmacological treatment of Parkinson's disease: direct dopaminergic agonists

A doença de Parkinson idiopática (DP) é um dos problemas neurológicos mais frequentes. Apesar de ainda não ter cura, existem numerosos recursos para obter melhora sintomática prolongada. Entre as drogas existentes, os agonistas dopaminérgicos diretos vêm ocupando lugar de destaque no tratamento dessa doença, em suas diversas fases evolutivas. A presente revisão tem por objetivo apresentar os fundamentos neurobiológicos (sistema dopaminérgico, gânglios da base e seus circuitos) em condições normais e patológicas, assim como as características dos diversos agonistas diretos, ergolínicos e nãoðergolínicos. Esperaðse assim um melhor compreensão da ação desse grupo de drogas nas diversas etapas evolutivas da DP, para utilização em monoterapia ou de modo adjuntivo, visando o melhor controle das manifestações típicas da doença, assim como prevenir ou atenuar as freqüentemente incapacitantes complicações motoras (flutuações, discinesias)