VAC14 Gene‐Related Parkinsonism‐Dystonia With Response to Deep Brain Stimulation

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/150504/1/mdc312797-sup-0001-TableS1.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150504/2/mdc312797.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150504/3/mdc312797_am.pd

Paroxysmal movement disorders – practical update on diagnosis and management

Paroxysmal dyskinesias and episodic ataxias are often caused by mutations in genes related to cell membrane and synaptic function. Despite the exponential increase in publications of genetically confirmed cases, management remains largely clinical based on non-systematic evidence. Areas covered: The authors provide a historical and clinical review of the main types of paroxysmal dyskinesias and episodic ataxias, with recommendations for diagnosis and management of patients suffering from these conditions. Expert opinion: After secondary paroxysmal dyskinesias, the most common paroxysmal movement disorders are likely to be PRRT2-associated paroxysmal kinesigenic dyskinesias, which respond well to small doses of carbamazepine, and episodic ataxia type 2, which often responds to acetazolamide. Familial paroxysmal non-kinesigenic dyskinesias are largely caused by mutations in PNKD and have poor response to therapy but improve with age. Exercise-induced dyskinesias are genetically heterogeneous, caused by disorders of glucose transport, mitochondrial function, dopaminergic pathways or neurodegenerative conditions amongst others. GNAO1 and ADCY5 mutations can also cause paroxysmal movement disorders, often in the context of ongoing motor symptoms. Although a therapeutic trial is justified for classic cases and in limited resource settings, genetic testing may help direct initial or rescue therapy. Deep brain stimulation may be an option for severe cases199807822COORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESsem informaçã

Scoping review on ADCY5-related movement disorders

Background Adenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) is a rare, childhood-onset disease resulting from pathogenic variants in the ADCY5 gene. The clinical features, diagnostic options, natural history, and treatments for this disease are poorly characterized and have never been established through a structured approach. Objective This scoping review attempts to summarize all available clinical literature on ADCY5-RMD. Methods Eighty-seven articles were selected for inclusion in this scoping review. The majority of articles identified were case reports or case series. Results These articles demonstrate that patients with ADCY5-RMD suffer from permanent and/ or paroxysmal hyperkinetic movements. The paroxysmal episodes can be worsened by environmental triggers, in particular the sleep–wake transition phase in the early morning. Occurrence of nocturnal paroxysmal dyskinesias and perioral twitches are highly suggestive of the diagnosis when present. In the majority of patients intellectual capacity is preserved. ADCY5-RMD is considered a non-progressive disorder, with inter-individual variations in evolution with aging. Somatic mosaicism, mode of inheritance and the location of the mutation within the protein can influence phenotype. Conclusions The current evidence for therapeutic options for ADCY5-RMD is limited: caffeine, benzodiazepines and deep brain stimulation have been consistently reported to be useful in case reports and case series.</p

Pagando pelos serviços ambientais: uma proposta para a Reserva Extrativista Chico Mendes Paying for environmental services: a proposal for the Chico Mendes Extractivist Reserve

Sabe-se que o processo de ocupação econômica, pós-1970, foi extremamente prejudicial ao meio ambiente e às populações tradicionais da região Amazônica, persistindo ainda hoje as imensas dificuldades de reprodução das famílias no interior da floresta. Um dos principais desafios na busca de um Desenvolvimento Sustentável é a viabilização do desempenho econômico das unidades produtivas, a partir dos produtos florestais não madeireiros (PFNM), e, conseqüentemente, da reprodução social dessa população. Objetiva-se no presente estudo propor uma alternativa factível de pagamento pelos serviços ambientais (PSA) promovidos pelas comunidades extrativistas, há mais de um século. Para tanto, busca-se, inicialmente, realizar uma avaliação sócio-econômica da produção familiar rural na RESEX Chico Mendes, em Xapuri-AC, no sentido de oferecer uma proposta coerente com as necessidades das famílias estudadas. Utiliza-se para tanto metodologia própria e específica, por intermédios de medidas e indicadores de resultado socioeconômico, avaliando a evolução do desempenho econômico dos últimos nove anos na região. Os resultados indicam a diminuição da geração de renda de produtos oriundos do extrativismo, demonstrando as dificuldades de reprodução desse sistema e das famílias, além de realçar o fortalecimento de atividades predadoras da floresta, como é o caso da pecuária extensiva, realizada ainda de maneira rudimentar. Face aos níveis de reprodução familiar, calcula-se que o valor mínimo necessário para o PSA seria em torno US$13/ha, evidenciando um valor necessário e, ao mesmo tempo, mais adequado frente às proposições da literatura corrente, que estima valores para os mesmos serviços em torno de US$ 50/ha.<br>It is known that the process of economical occupation, in the last forty years, it was extremely harmful to the environment and the traditional populations of the Amazon region, still persisting today the immense difficulties of reproduction of the families inside the forest. One of the principal challenges in the search of a Sustainable Development is the promotion of the economical development of the productive units, starting from the non timber forest products (NTFP), and, consequently, of the social reproduction of that population. It is aimed at in the present study to propose a feasible alternative of payment for the environmental services (PSA) promoted by the communities extrativistas, there is more than one century. For so much, it is looked for, initially, to accomplish a socioeconomic evaluation of the rural family production in Extractive Reserve (RESEX) Chico Mendes, in Xapuri-AC, in the sense of offering a coherent proposal with the needs of the studied families. It is used for so much own and specific methodology, for intermissions of measures and indicators of resulted economical, evaluating the evolution of the economical development of the last nine years in the area. The results indicate the decrease of the generation of income of products originating from of the NTFPs, demonstrating the difficulties of reproduction of that system and of the families, besides enhancing the invigoration of activities predatory of the forest, as it is the case of the extensive livestock, still accomplished in a rudimentary way. In the face of the levels of family reproduction, is calculated that the necessary minimum value for PSA would be US$13/ha, evidencing a necessary value and, at the same time, more appropriate front to the propositions of the average literature, that esteems values for the same services around US$ 50/ha

Considerations and consequences of allowing DNA sequence data as types of fungal taxa

Nomenclatural type definitions are one of the most important concepts in biological nomenclature. Being physical objects that can be re-studied by other researchers, types permanently link taxonomy (an artificial agreement to classify biological diversity) with nomenclature (an artificial agreement to name biological diversity). Two proposals to amend the International Code of Nomenclature for algae, fungi, and plants (ICN), allowing DNA sequences alone (of any region and extent) to serve as types of taxon names for voucherless fungi (mainly putative taxa from environmental DNA sequences), have been submitted to be voted on at the 11th International Mycological Congress (Puerto Rico, July 2018). We consider various genetic processes affecting the distribution of alleles among taxa and find that alleles may not consistently and uniquely represent the species within which they are contained. Should the proposals be accepted, the meaning of nomenclatural types would change in a fundamental way from physical objects as sources of data to the data themselves. Such changes are conducive to irreproducible science, the potential typification on artefactual data, and massive creation of names with low information content, ultimately causing nomenclatural instability and unnecessary work for future researchers that would stall future explorations of fungal diversity. We conclude that the acceptance of DNA sequences alone as types of names of taxa, under the terms used in the current proposals, is unnecessary and would not solve the problem of naming putative taxa known only from DNA sequences in a scientifically defensible way. As an alternative, we highlight the use of formulas for naming putative taxa (candidate taxa) that do not require any modification of the ICN.Peer reviewe