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Hereditary transthyretin amyloidosis with peripheral neuropathy (ATTRv-PN) is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy with over 130 pathogenic variants identified in the TTR gene. Hereditary transthyretin amyloidosis with peripheral neuropathy is a disabling, progressive and life-threatening genetic condition that leads to death in ~ 10 years if untreated. The prospects for ATTRv-PN have changed in the last decades, as it has become a treatable neuropathy. In addition to liver transplantation, initiated in 1990, there are now at least 3 drugs approved in many countries, including Brazil, and many more are being developed. The first Brazilian consensus on ATTRv-PN was held in the city of Fortaleza, Brazil, in June 2017. Given the new advances in the area over the last 5 years, the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology organized a second edition of the consensus. Each panelist was responsible for reviewing the literature and updating a section of the previous paper. Thereafter, the 18 panelists got together virtually after careful review of the draft, discussed each section of the text, and reached a consensus for the final version of the manuscript. Resumo Polineuropatia amiloidótica familiar associada a transtirretina (ATTRv-PN) é uma polineuropatia sensitivo-motora e autonômica hereditária autossômica dominante com mais de 130 variantes patogênicas já identificadas no gene TTR. A ATTRv-PN é uma condição genética debilitante, progressiva e que ameaça a vida, levando à morte em ~ 10 anos se não for tratada. Nas últimas décadas, a ATTRv-PN se tornou uma neuropatia tratável. Além do transplante de fígado, iniciado em 1990, temos agora 3 medicamentos modificadores de doença aprovados em muitos países, incluindo o Brasil, e muitas outras medicações estão em desenvolvimento. O primeiro consenso brasileiro em ATTRv-PN foi realizado em Fortaleza em junho de 2017. Devido aos novos avanços nesta área nos últimos 5 anos, o Departamento Científico de Neuropatias Periféricas da Academia Brasileira de Neurologia organizou uma segunda edição do consenso. Cada panelista ficou responsável por rever a literatura e atualizar uma parte do manuscrito. Finalmente, os 18 panelistas se reuniram virtualmente após revisão da primeira versão, discutiram cada parte do artigo e chegaram a um consenso sobre a versão final do manuscrito.

A 41-year-old man gave a 1-week history of very intense lower back pain, which radiated down the right posterolateral thigh, to the anterior tibia and the dorsum of the foot. He had previously undergone a renal transplantation. On examination, Lasegue’s sign was positive on the right. The medial hamstring reflex was absent on the right but normal on the left (figure 1 and online supplemental video). MR scan of lumbar spine showed a voluminous extruded disc herniation with compression of the descending right L5 nerve root (figure 2). Electromyography showed decreased recruitment of motor unit action potentials in the tibialis anterior and gluteus medius muscles (L5 myotomal pattern). Figure 1 Medial hamstring reflex elicited with the patient prone: The index finger, placed on the medial hamstring tendon above the knee joint, should be struck with a tendon hammer, looking for contraction of the medial hamstring muscles (semitendinosus and semimembranosus). Figure 2 MR scan of lumbar spine T2-weighted images: (A) sagittal and (B) axial, showing a …

During examination of a 62-year-old woman with a diagnosis of myasthenia gravis, left eyelid manual elevation caused exacerbated ptosis on the right (enhanced ptosis) (figure). According to Hering law, there is approximately equal innervation of the levator palpebrae superioris muscles in both eyelids.1 In an asymmetric ptosis, the motor impulses increase to compensate ptosis on the more affected side but also flow to the contralateral eyelid, which mitigates ptosis on that side. With manual elevation of the more affected eyelid, the need to sustain eyelid elevation is relieved, and there is an attenuation of these motor impulses causing ptosis enhancement of the other eyelid (video 1).2

Objective : To determine the prevalence of amyotrophic lateral sclerosis (ALS) in the city of Porto Alegre, Brazil. Method : We conducted an extensive investigation in clinics and hospitals that provide specialized assistance to these patients, contacted neurologists and the regional association of people with ALS. Results : On July 31, 2010, 70 patients were alive and diagnosed with amyotrophic lateral sclerosis. Considering the population living in the city in the same period (1,409,351), the estimated prevalence was 5.0 cases per 100,000 people (95% CI, 3.9-6.2), being higher for men (5.2/100,000 95% CI, 3.6-7.2) than for women (4.8/100,000 95% CI, 3.4-6.5). The prevalence increased with age peaking in the age group 70-79 years in both genders. Conclusion : The prevalence of ALS in the city of Porto Alegre is similar to that reported in other parts of the world. Objetivo : Determinar a prevalência de esclerose lateral amiotrófica (ELA) no município de Porto Alegre, Brasil. Método : Foi realizada ampla busca em hospitais especializados, contato com neurologistas e com a associação regional dos portadores de ELA para identificar os casos. Resultados : No dia 31 de julho de 2010, 70 pacientes estavam vivos e com diagnóstico de ELA. Considerando a população residente no município no mesmo período (1.409.351), a prevalência estimada foi de 5,0 casos a cada 100.000 pessoas (IC 95%, 3,9-6,2), sendo maior para os homens (5,2/100.000 IC 95%, 3,6-7,2) do que para as mulheres (4,8/100.000 IC 95%, 3,4-6,5). A prevalência aumentou com a idade, atingindo um pico entre os 70 e 79 anos, em ambos os sexos. Conclusão : A prevalência de ELA no município de Porto Alegre é similar à encontrada em outras localidades no mundo.

Fasciculations are symptoms present in a broad spectrum of conditions, ranging from normal manifestations to motor neuron diseases. They also represent the main picture of benign fasciculation syndrome. We report a case of such syndrome: a 48-years-old woman complaining about fasciculations for three decades who remained with the symptoms even after the compensation of a disclosed hyperthyroidism. The introduction of gabapentin rendered control of her fasciculations. The available data in the literature about the therapeutic approaches for fasciculations are revised, as long as the rare reports of evolution from patients with "benign" fasciculations to cases of amyotrophic lateral sclerosis, underlining the importance of following the patients with fasciculations. Fasciculações são sintomas presentes em um amplo espectro de condições, desde manifestações normais até doenças do neurônio motor. Elas representam também o principal aspecto da síndrome de fasciculações benignas. Relatamos um caso desta síndrome: uma paciente de 48 anos com queixas de fasciculações por três décadas que, mesmo após a compensação de um quadro de hipertireoidismo, permaneceu com os sintomas. A introdução de gabapentina levou a controle das fasciculações. Os dados disponíveis na literatura sobre as abordagens terapêuticas para fasciculações são revisados, assim como os raros relatos de evolução de pacientes com fasciculações "benignas" para casos de esclerose lateral amiotrófica, salientando a importância do seguimento dos pacientes com fasciculações.

Fasciculations are symptoms present in a broad spectrum of conditions, ranging from normal manifestations to motor neuron diseases. They also represent the main picture of benign fasciculation syndrome. We report a case of such syndrome: a 48-years-old woman complaining about fasciculations for three decades who remained with the symptoms even after the compensation of a disclosed hyperthyroidism. The introduction of gabapentin rendered control of her fasciculations. The available data in the literature about the therapeutic approaches for fasciculations are revised, as long as the rare reports of evolution from patients with "benign" fasciculations to cases of amyotrophic lateral sclerosis, underlining the importance of following the patients with fasciculations.

The present report investigates the effects of early undernutrition on the latent learning ability of rehabilitated adult male rats in a simple maze task. Rats were undernourished during suckling by feeding their dams an 8% casein diet. Well-nourished dams received a 25% casein diet during the same period. Rats were weaned at 21 days of age and nutritionally rehabilitated until they became adults, when behavioral task was conducted. Under a nonappetitive condition, rats were exposed either to an open field or to a maze apparatus. They were thereafter deprived of water and tested in the maze apparatus. Both well-nourished and undernourished rats that had been previously exposed to the maze performed better than those exposed to the open field. Nutritional treatment had no effect on performance of either the latent learning or of the open-field groups. These results suggest that rehabilitated adult rats are able to learn about the environment when no immediate reinforcement is involved. The discrepancy between our findings and results reported by others may be due to differences in task complexity and/or perhaps to the fact that nutritional rehabilitation also plays a role in reversing some of the deleterious effects of early undernutrition on learning ability of rats.