Search

IntroductionHansen's disease (HD) primarily infects peripheral nerves, with patients without HD being free of peripheral nerve damage. Household contacts (HHCs) of patients with HD are at a 5–10 times higher risk of HD than the general population. Neural thickening is one of the three cardinal signs that define a case of HD according to WHO guidelines, exclusively considering palpation examination that is subjective and may not detect the condition in the earliest cases even when performed by well-trained professionals. High-resolution ultrasound (HRUS) can evaluate most peripheral nerves, a validated technique with good reproducibility allowing detailed and accurate examination.ObjectiveThis study aimed to use the peripheral nerve HRUS test according to the HD protocol as a diagnostic method for neuropathy comparing HHCs with healthy volunteers (HVs) and patients with HD.MethodsIn municipalities from 14 different areas of Brazil we selected at random 83 HHC of MB-patients to be submitted to peripheral nerve ultrasound and compared to 49 HVs and 176 HD-patients.ResultsHousehold contacts assessed by HRUS showed higher median and mean absolute peripheral nerve cross-sectional area (CSA) values and greater asymmetries (ΔCSA) compared to HVs at the same points. Median and mean absolute peripheral nerve CSA values were higher in patients with HD compared to HCCs at almost all points, while ΔCSA values were equal at all points. Mean ± SD focality (ΔTpT) values for HHCs and patients with HD, respectively, were 2.7 ± 2.2/2.6 ± 2.2 for the median nerve, 2.9 ± 2.7/3.3 ± 2.9 for the common fibular nerve (p > 0.05), and 1.3 ± 1.3/2.2 ± 3.9 for the ulnar nerve (p < 0.0001).DiscussionConsidering HRUS findings for HHCs, asymmetric multiple mononeuropathy signs (thickening or asymmetry) in at least 20% of the nerves evaluated could already indicates evidence of HD neuropathy. Thus, if more nerve points are assessed in HHCs (14 instead of 10), the contacts become more like patients with HD according to nerve thickening determined by HRUS, which should be a cutting-edge tool for an early diagnosis of leprosy cases.

TANK-binding kinase 1 (TBK1) gene mutations cause ALS and frontotemporal dementia (FTD). We report a novel TBK1 mutation in a Brazilian patient with ALS. Symptoms started at age 44 (lower-limb onset). Despite treatment with riluzole, his condition progressed over 5 years to aphemia, dysphagia, gastrostomy and tracheostomy. A diagnostic test panel for neurodegenerative disorders disclosed a novel likely pathogenic heterozygous intronic mutation in the TBK1 gene: c.1189 + 1G gt; T (Splice donor), intron 9. This mutation is expected to disrupt RNA splicing and lead to loss of protein function. Disruption of this splice site has been observed in patients with TBK1-related disorders. Separate and additional C9ORFF72 testing was negative. To our knowledge, this is the second patient with a TBK1 mutation (novel splice donor intronic mutation) reported in Brazil, and the first to include a full description of the clinical course. Further studies are necessary to establish the frequency of TBK1 mutations in Brazilian ALS patients (and worldwide) and to evaluate the possible different clinical phenotypes and the disease course.

© 2020 Elsevier Ltd. All rights reserved., Background: Hereditary transthyretin-mediated amyloidosis is a rare, inherited, progressive disease caused by mutations in the transthyretin (TTR) gene. We assessed the safety and efficacy of long-term treatment with patisiran, an RNA interference therapeutic that inhibits TTR production, in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy. Methods: This multicentre, open-label extension (OLE) trial enrolled patients at 43 hospitals or clinical centres in 19 countries as of Sept 24, 2018. Patients were eligible if they had completed the phase 3 APOLLO or phase 2 OLE parent studies and tolerated the study drug. Eligible patients from APOLLO (patisiran and placebo groups) and the phase 2 OLE (patisiran group) studies enrolled in this global OLE trial and received patisiran 0·3 mg/kg by intravenous infusion every 3 weeks with plans to continue to do so for up to 5 years. Efficacy assessments included measures of polyneuropathy (modified Neuropathy Impairment Score +7 [mNIS+7]), quality of life, autonomic symptoms, nutritional status, disability, ambulation status, motor function, and cardiac stress, with analysis by study groups (APOLLO-placebo, APOLLO-patisiran, phase 2 OLE patisiran) based on allocation in the parent trial. The global OLE is ongoing with no new enrolment, and current findings are based on the interim analysis of the patients who had completed 12-month efficacy assessments as of the data cutoff. Safety analyses included all patients who received one or more dose of patisiran up to the data cutoff. This study is registered with ClinicalTrials.gov, NCT02510261. Findings: Between July 13, 2015, and Aug 21, 2017, of 212 eligible patients, 211 were enrolled: 137 patients from the APOLLO-patisiran group, 49 from the APOLLO-placebo group, and 25 from the phase 2 OLE patisiran group. At the data cutoff on Sept 24, 2018, 126 (92%) of 137 patients from the APOLLO-patisiran group, 38 (78%) of 49 from the APOLLO-placebo group, and 25 (100%) of 25 from the phase 2 OLE patisiran group had completed 12-month assessments. At 12 months, improvements in mNIS+7 with patisiran were sustained from parent study baseline with treatment in the global OLE (APOLLO-patisiran mean change -4·0, 95 % CI -7·7 to -0·3; phase 2 OLE patisiran -4·7, -11·9 to 2·4). Mean mNIS+7 score improved from global OLE enrolment in the APOLLO-placebo group (mean change from global OLE enrolment -1·4, 95% CI -6·2 to 3·5). Overall, 204 (97%) of 211 patients reported adverse events, 82 (39%) reported serious adverse events, and there were 23 (11%) deaths. Serious adverse events were more frequent in the APOLLO-placebo group (28 [57%] of 49) than in the APOLLO-patisiran (48 [35%] of 137) or phase 2 OLE patisiran (six [24%] of 25) groups. The most common treatment-related adverse event was mild or moderate infusion-related reactions. The frequency of deaths in the global OLE was higher in the APOLLO-placebo group (13 [27%] of 49), who had a higher disease burden than the APOLLO-patisiran (ten [7%] of 137) and phase 2 OLE patisiran (0 of 25) groups. Interpretation: In this interim 12-month analysis of the ongoing global OLE study, patisiran appeared to maintain efficacy with an acceptable safety profile in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy. Continued long-term follow-up will be important for the overall assessment of safety and efficacy with patisiran.

O conhecimento dos padrões de suscetibilidade e resistência dos isolados bacterianos das piometras caninas tem extrema importância do ponto de vista terapêutico, especialmente pela grande incidência desta afecção na espécie e potencial para o desenvolvimento de sepse. O presente trabalho avaliou a frequência dos isolados bacterianos em cadelas durante cinco anos por meio de diagnósticos ultrassonográficos e, subsequentemente, por meio de cultura e antibiograma da secreção uterina. Descreve-se a sensibilidade das bactérias isoladas aos fármacos antimicrobianos empregados com maior frequência na clínica médica e cirúrgica de pequenos animais. Foram analisados 132 prontuários de cadelas pertencentes a 29 raças, ou sem raça definida, que foram os mais prevalentes (14,39%), seguidos de lhasa apso (12,12%) e yorkshire terrier (9,84%). A idade média dos cães foi de 9 anos, e o agente etiológico mais frequente foi Escherichia coli (73,48%), seguido de Staphylococcus spp., Streptococcus spp., Proteus spp., Pseudomonas aeruginosa, Serratia spp., Citrobacter spp., bacilo Gram-negativo não fermentador e Enterococcus spp. A sensibilidade das estirpes isoladas aos antimicrobianos testados corroborou parcialmente a literatura, ressaltando a relevância microbiológica para que o sucesso terapêutico seja atingido.

COVID-19 may be associated with neurologic complications. Patients with COVID-19 may develop an acute inflammatory painful polyradiculoneuritis that seems to respond to intravenous human immunoglobulin.

There is evidence of a higher prevalence of restless legs syndrome/Willis-Ekbom disease (RLS/WED) in individuals with spinocerebellar ataxia type 3 (SCA3), although the factors underlying this association remain unknown. The present study aimed to determine the prevalence of RLS/WED in SCA3 patients and to investigate which factors of SCA3 patients are associated with presence of RLS/WED. From February to August of 2006, we carried out clinical interviews in 40 controls and 40 SCA3 patients, diagnosed and followed up at Faculty of Medicine of Ribeirao Preto, University of Sao Paulo. Twenty-seven SCA3 patients were submitted to a detailed clinical protocol, electroneuromyography, blood work up, polysomnography (PSG), suggested immobilization test (SIT), and magnetic resonance image (MRI). RLS/WED was found in 27.5% of SCA3 patients and 2.5% of normal controls (p = 0.003). The factors related to RLS/WED in SCA3 patients were female gender, age at start of the symptoms of ataxia after 30 years, presence of peripheral neuropathy, and documented iron deficiency. Among SCA3 patients, those with RLS showed higher values of maximal discomfort level and discomfort level sum compared to non-RLS individuals on SIT. There is a relation between RLS/WED and SCA3, which seems to be resultant of different factors whose identification could improve the quality of assistance to those patients as well as to promote a better comprehension of the pathophysiology of both RLS/WED and SCA3.

A 67-year-old Brazilian man of African ancestry and his 60-year-old sister both presented with choreiform movements, although in the man these were significantly overshadowed by additional parkinsonism. The man also had a history of four epileptic seizures. Neurological examination in each also found slow saccades and a dysexecutive syndrome. Genetic tests for Huntington’s disease were negative but were positive for Huntington’s disease-like 2. There are various genetic causes of chorea diseases, and their correct identification is important for appropriate clinical management and genetic counselling.

The purpose of this study was to evaluate the response of the tibialis anterior muscle (TAm) using surface electromyography in patients with Charcot-Marie-Tooth disease (CMT-IA), after ipsilateral proprioceptive neuromuscular patterns (PNF). Thirteen CMT-IA patients (both sexes) were treated twice a week, for 5 weeks, with bilateral PNF pattern, four times per treatment. During the execution of the patterns, we recorded the bilateral activation of the TAm in root mean square (RMS). We used the Student paired t-test for the first and last treatments, P-value set at

Objetivo: Avaliar as características clínicas e genéticas de um grande grupo de acometidos pela ataxia espinocerebelar tipo 3 (AEC3), conhecida por Doença de Machado-Joseph (DMJ). Métodos: 211 pacientes AEC3/DMJ foram caracterizados de acordo com o sexo, idade de início da doença, número de tripletos CAG (Citosina-Adenina-Guanina) no alelo expandido, subtipo, sexo do progenitor do qual herdou a doença, antecipação dos sinais e sintomas e percentual da prole afetada. Resultados: Foi observado que as maiores expansões CAG, o subtipo 1 da doença e o sexo do paciente influenciam na idade de início da patologia. Indivíduos do sexo masculino desenvolveram sinais e sintomas de AEC3/DMJ quatro anos antes do que indivíduos do sexo feminino. A média da idade de início dos pacientes foi de 4,84 anos anterior à idade de início dos genitores, indicando antecipação. Ademais, foi observado que a antecipação paterna foi de 7,19 anos, enquanto a materna foi de 3,57 anos. Conclusão: Esta população de AEC3/DMJ mostra algumas peculiaridades, principalmente em relação às diferentes idades de início entre homens e mulheres. O reconhecimento de fatores que modificam a idade de início da doença e a maneira como eles interferem na população afetada podem contribuir para o futuro manejo dessa condição.

Background Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an important form of inherited ataxia with a varied clinical spectrum. Detailed studies of phenotype and genotype are necessary to improve diagnosis and elucidate this disorder pathogenesis. OBJECTIVE AND METHODS: To investigate the clinical phenotype, retinal architecture, neuroimaging features and genetic profile of Brazilian patients with ARSACS, we performed neurological and ophthalmological evaluation in thirteen Brazilian patients with molecularly confirmed ARSACS, and examined their mutation profiles. Optical coherence tomography protocol (OCT) consisted in peripapillary retinal nerve fiber layer (RNFL) measurement and qualitative analysis of perifoveal scans. Neuroimaging protocol accessed the frequency of atrophy in cerebellum, corpus callosum and parietal lobe, brainstem signal abnormalities, and posterior fossa arachnoid cysts. We reviewed the literature to delineate the ARSACS phenotype in the largest series worldwide. RESULTS: All patients had ataxia and spasticity, and 11/13 had peripheral neuropathy. Macular microcysts were present in two patients. Peripapillary striations, dentate appearance of inner retina and papillomacular fold were found in eleven cases. All individuals exhibited thickening of RNFL in OCT. The most frequent radiological signs were cerebellar atrophy (13/13), biparietal atrophy (12/13), and linear pontine hypointensities (13/13). Genetic analysis revealed 14 different SACS variants, of which two are novel. CONCLUSION: Macular microcysts, inner retina dentate appearance and papillomacular fold are novel retinal imaging signs of ARSACS. Ophthalmological and neuroimaging changes are common findings in Brazilian patients. The core clinical features of ARSACS are ataxia, spasticity and peripheral neuropathy with onset predominantly in the first decade of life.

To evaluate ultrasonographic (US) cross-sectional areas (CSAs) of peripheral nerves, indexes of the differences between CSAs at the same point (∆CSAs) and between tunnel (T) and pre-tunnel (PT) ulnar CSAs (∆TPTs) in leprosy patients (LPs) and healthy volunteers (HVs). Seventy-seven LPs and 49 HVs underwent bilateral US at PT and T ulnar points, as well as along the median (M) and common fibular (CF) nerves, to calculate the CSAs, ∆CSAs and ∆TPTs. The CSA values in HVs were lower than those in LPs (p < 0.0001) at the PT (5.67/9.78 mm2) and T (6.50/10.94 mm2) points, as well as at the M (5.85/8.48 mm2) and CF (8.17/14.14 mm2) nerves. The optimum CSA- receiver operating characteristic (ROC) points and sensitivities/specificities were, respectively, 6.85 mm2 and 68-85% for the PT point, 7.35 mm2 and 71-78% for the T point, 6.75 mm2 and 62-75% for the M nerve and 9.55 mm2 and 81-72% for the CF nerve. The ∆CSAs of the LPs were greater than those of the HVs at the PT point (4.02/0.85; p = 0.007), T point (3.71/0.98; p = 0.0005) and CF nerve (2.93/1.14; p = 0.015), with no difference found for the M nerve (1.41/0.95; p = 0.17). The optimum ∆CSA-ROC points, sensitivities, specificities and p-values were, respectively, 1.35, 49%, 80% and 0.003 at the PT point, 1.55, 55-85% and 0.0006 at the T point, 0.70, 58-50% and 0.73 for the M nerve and 1.25, 54-67% and 0.022 for the CF nerve. The ∆TPT in the LPs was greater than that in the HVs (4.43/1.44; p 80%) and ∆TPT had the highest specificity (> 90%). New sonographic peripheral nerve measurements (∆CSAs and ∆TPT) provide an important methodological improvement in the detection of leprosy neuropathy.

Fabry disease is an X-linked inborn error of metabolism, which is caused by the deficiency of#945;-galactosidase A, leading to progressive accumulation of neutral glycosphingolipids and a-galactosyl breakdown products in most body fluids and several tissues, resulting in the clinical manifestations. The onset of Fabry disease symptoms in females is not observed as early as in males. We report a novel presentation of Fabry disease in a female patient with medical history of relapsing strokes and brain magnetic resonance angiography showing signs of microangiopathy and multiple lacunar strokes that were first diagnosed as Moyamoya disease (a chronic progressive cerebrovascular disease). The patient subsequently displayed increased levels of serum creatinine and proteinuria. Diagnosis of Fabry disease was made by a renal biopsy and was confirmed by molecular studies showing a missense mutation: c1066CT (het) [R356W]. The diagnosis was delayed by 21 years with respect to her first symptom (stroke), probably because her initial clinical presentation was neurological and diagnosed as Moyamoya disease. Other factors that contributed to the delay of the diagnosis were the lack of acute or chronic pain (neuropathic pain) and angiokeratomas. Some similarities in the pathogenic aspects of the patient's vascular lesions lead us to speculate that this patient has Fabry disease, with a phenotype that had not yet been described. It is necessary to be aware of this possibility to avoid misdiagnosis of Fabry disease as Moyamoya disease.

The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy. Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS. RESUMO A neuropatia hereditária com susceptibilidade à pressão (HNPP) é uma doença autossômica dominante que manifesta mononeuropatias recorrentes. Objetivo Avaliar as características clínicas e os estudos da condução nervosa (ECN) procurando particularidades diagnósticas. Método Revisamos as características clínicas de 39 e os ECN de 33 pacientes. Resultados História familiar ausente em 16/39 (41%). As manifestações iniciais foram: fraqueza em 24, dor em 6, déficit sensitivo em 5 e parestesias em 4. Dor foi referida por outros 3 pacientes. Os seguintes padrões de neuropatia foram observados: mononeuropatia múltipla (26), mononeuropatia (6), polineuropatia sensitivo-motora (4), polineuropatia sensitiva (1) e plexopatia braquial unilateral (1). Os ECN mostraram uma neuropatia sensitivo-motora com redução focal da velocidade de condução em 31, dois tinham mononeuropatia e outro plexopatia braquial. Conclusão A apresentação da HNPP é variável e pode incluir dor. O padrão mais frequente é o de uma neuropatia sensitivo-motora assimétrica com alentecimentos focais da condução em topografias específicas nos ECN.

• HDL2 is the most common HD phenocopy and it is usually found in subjects with African Lineage.

OBJETIVO: Avaliar a resposta do músculo tibial anterior (TA) após um protocolo de cinco semanas com irradiação contralateral de força através de diagonais de facilitação neuromuscular proprioceptiva (FNP) em pacientes com polineuropatia desmielinizante associada à doença de Charcot-Marie-Tooth do tipo 1A (CMT-1A). MÉTODOS: Participaram deste estudo 12 pacientes, de ambos os sexos. Eles foram tratados em uma frequência de duas vezes por semana, durante cinco semanas. Em cada sessão, foram utilizadas as diagonais de Chopping, extensão-adução com rotação interna (EARI) e flexão-abdução com rotação interna (FARI). As diagonais foram repetidas quatro vezes, em ambos os membros superiores e inferiores; cada diagonal tinha duração média de 6 segundos. Durante as execuções, a resposta muscular do TA foi registrada por um eletromiógrafo de superfície, desprezando-se os 2 segundos iniciais e finais de cada diagonal. A média dos valores de Root Mean Square (RMS) das quatro repetições foi normalizada em porcentagem. Os dados iniciais e finais foram submetidos ao teste em t para amostras pareadas com valores de p significativos OBJECTIVE: To evaluate the response of the tibialis anterior (TA) muscle following a five-week protocol with contralateral irradiation force through Proprioceptive Neuromuscular Facilitation (PNF) diagonals in patients with demyelinating polyneuropathy associated with Charcot-Marie-Tooth disease type 1A (CMT-1A). METHODS: The study included 12 patients of both sexes. They were treated twice-weekly for 5 weeks. At each session, they performed the following diagonal patterns: chopping, extension-adduction with internal rotation (EAIR) and flexion-abduction with internal rotation (FAIR). The diagonals were repeated four times, in both upper and lower limbs, with each repetition lasting six seconds on average. During execution, the response of the TA muscle was recorded by a surface electromyograph disregarding the initial and final two seconds of each diagonal. The mean RMS values of the four repetitions were normalized in percentage. The initial and final data were analyzed through the t test for paired samples with significant p-values

OBJETIVO: Avaliar a resposta do músculo tibial anterior (TA) após um protocolo de cinco semanas com irradiação contralateral de força através de diagonais de facilitação neuromuscular proprioceptiva (FNP) em pacientes com polineuropatia desmielinizante associada à doença de Charcot-Marie-Tooth do tipo 1A (CMT-1A). MÉTODOS: Participaram deste estudo 12 pacientes, de ambos os sexos. Eles foram tratados em uma frequência de duas vezes por semana, durante cinco semanas. Em cada sessão, foram utilizadas as diagonais de Chopping, extensão-adução com rotação interna (EARI) e flexão-abdução com rotação interna (FARI). As diagonais foram repetidas quatro vezes, em ambos os membros superiores e inferiores; cada diagonal tinha duração média de 6 segundos. Durante as execuções, a resposta muscular do TA foi registrada por um eletromiógrafo de superfície, desprezando-se os 2 segundos iniciais e finais de cada diagonal. A média dos valores de Root Mean Square (RMS) das quatro repetições foi normalizada em porcentagem. Os dados iniciais e finais foram submetidos ao teste em t para amostras pareadas com valores de p significativos

O acometimento patológico do sistema nervoso no diabetes melito é muito amplo e, freqüentemente, bastante grave. A prevalência de neuropatia diabética atinge níveis elevados com a evolução temporal do diabetes, chegando, geralmente, a freqüências acima de 50% de lesão neurológica em diferentes grupos de pacientes analisados em nosso meio e no exterior. A lesão neurológica nesta situação patológica é extensa no organismo humano diabético, envolvendo amplamente todo o sistema nervoso periférico nos seus componentes sensitivo-motor e autonômico: com clínica característica e concordante com as hipóteses patogênicas de natureza metabólica e/ou microvascular. O sistema nervoso autonômico é o elemento fundamental na regulação da função da maior parte dos sistemas ou órgãos no organismo, portanto, a sua lesão pode trazer importantes alterações para as funções cardiovascular, respiratória, digestiva, urinária e genital, podendo influir na função vital de alguns desses órgãos ou sistemas. Este artigo aborda as alterações decorrentes da lesão do sistema nervoso autonômico, especialmente nos pacientes diabéticos tipo 1, procurando dimensionar o risco de morbimortalidade. The pathological alteration of the nervous system in diabetic patients is extensive and frequently severe. The prevalence of the diabetic neuropathy reach high levels with the evolution of the diabetes, often showing frequencies higher than 50% in several groups of patients. The neurological lesion in this pathological situation is extensive in the diabetic patient, including widely the peripheral nervous system with its components sensory, motor and autonomic: with typical symptoms and in accordance with the pathogenesis of metabolic origin and/or microvascular disease. The autonomic nervous system is a main regulator of many systems in the human body. Then its lesion can promote significant alterations in the function of the cardiovascular, respiratory, gastrointestinal, urogenital system, that can be related to increased motality. This review anlyses the abnormalities related to lesion of the autonomic nervous system, particularly in type 1 diabetic patients, trying to characterize the risk of morbidity and mortality.

We aimed to investigate the relationship between neurological compromise, respiratory parameters in wakefulness and in sleep, physiology, and morphology of phrenic nerves in patients with Charcot–Marie–Tooth disease type 1A (CMT1A). Sixteen patients with CMT1A were evaluated by spirometry, maximal expiratory and maximal inspiratory pressures (MEP, MIP), polysomnography, phrenic nerve compound muscle action potential (CMAP), and ultrasonography (roots C3,C4,C5 and phrenic nerves). Clinical disability was measured with Charcot–Marie–Tooth neuropathy score (CMT-NS; range 0–36). Two control groups, comprising 30 individuals matched for age, sex, and body mass index, were used for comparison. Ten patients were female (62 %), mean age was 37.88 years (range 24–76); and CMT-NS range was 7–34. MIP was reduced in five (31 %) and MEP in 12 patients (75 %), although only one had restrictive respiratory dysfunction in spirometry. Apnoea–hypopnea index (AHI) was significantly higher in patients (12.01 ± 11.57/h × 5.89 ± 8.36/h; p value = 0.05) and increased in REM sleep compared with NREM (9.94 ± 10.96/h × 19.13 ± 19.93/h; p value = 0.01). There were significant correlations between CMT-NS and AHI (Pearson = 0.69; p value = 0.03); CMT-NS and MIP (Pearson = −0.691, p value = 0.003); and CMT-NS and MEP (Pearson = −0.603, p value = 0.013). Also, AHI showed negative correlation with MIP (Pearson = −0.52, p value = 0.036) and MEP (Pearson = −0.55, p value = 0.026). Phrenic nerves were enlarged in ultrasonography in all patients and presented significant correlations with CMAPs (right: Pearson = −0.554, p value = 0.026; left: Pearson = −0.558, p value = 0.025). We suggest that axonal degeneration of nerves directed to muscles of respiration might explain the high prevalence of respiratory weakness in patients with CMT1A. Clinical manifestations are frequent during sleep, where the diaphragm alone can only partially surpass the overload in breathing apparatus.

We conducted a 320 year retrospective survey of the history and genealogy of a large Brazilian family with SCA7. The ancestral couple was from the State of Ceará, Brazil, and the genealogical tree was composed of 577 individuals, including 217 males (37.6%), 255 females (44.1%) and 105 individuals of unknown sex (18.1%). Based on collected information, the 118 individuals consistently affected were distributed in generations IV (n=2), V (n=28), VI (n=57), VII (n=25) and VIII (n=6) of the genealogical tree. Sixty affected members are alive, 37 of them (61.6%) live in the Northeast region, 12 (20%) in the Southeast, 9 (15%) in the Center-West and 2 (3.3%) in the North. This genealogical survey was based only on 4 of the 10 children of the ancestral couple since the destiny of the remaining 6 is unknown. We propose that other Brazilian families with SCA7 may have the same genetic origin. Avaliamos retrospectivamente 320 anos da história e da genealogia de uma família brasileira portadora de ataxia espinocerebelar do tipo 7 (AEC7). O casal ancestral é oriundo do Estado do Ceará e a árvore genealógica foi composta de 577 indivíduos, sendo 217 do sexo masculino (37,6%), 255 do sexo feminino (44,1%) e 105 de sexo ignorado (18,1%). Até o presente momento, 118 indivíduos foram acometidos, distribuídos nas gerações IV (n=2), V (n=28), VI (n=57), VII (n=25) e VIII (n=6) da árvore genealógica. Entre os doentes atualmente vivos (n=60), 37 deles (61,6%) encontram-se na região Nordeste, 12 (20%) na região Sudeste, 9 (15%) na região Centro-Oeste e 2 (3,3%) na região Norte. Uma vez que a reconstituição da árvore genealógica foi baseada em apenas 4 dos 10 filhos do casal ancestral devido ao desconhecimento do destino dos outros 6, levantamos a hipótese de que outras famílias brasileiras com AEC7 possam ter a mesma origem genética.

The autosomal dominant cerebellar ataxias, also known as spinocerebellar ataxias (SCA), are characterized by cerebellar degeneration and by their afferent and efferent connections. Currently, at least 31 types of SCA are described, among which a subset, comprising types 1, 2, 3, 6, 7, 17 of the disease, is distinguished due to sharing the same form of mutation involving the repetition of the series of CAG triplets, known as polyglutamine diseases (SCApolyQ). Through a systematic literature review using the Pubmed, PsycoINFO, LILACS and SciELO databases and the keywords Spinocerebellar Ataxia in association with the words neuropsychiatric, psychological, cognitive impairment(s) and psychiatric comorbidities this study aimed to identify the possible associations between SCApolyQ and neuropsychological and psychiatric symptoms/disorders. A greater presence of symptoms of depression and anxiety was evidenced, as well as the existence of cognitive impairments in the patients with SCApolyQ when compared with the general population, with important differences in the profile of these impairments among the types of SCA. It was observed that the findings, in general, indicated greater impairment in the executive functions, verbal fluency and verbal memory and that there was a higher concentration of studies for SCA2 and SCA3. However, there is a need for a greater number of studies using a more homogeneous methodology, which perform direct comparisons between the types of ataxias and that explore some of the still little evaluated neuropsychological functions and the different psychiatric disorders in their amplitude.

To assess the influence of diabetic neuropathy (DN) on balance and functional strength in patients with diabetes mellitus type 2 (DM2).Cross-sectional study.Diabetes outpatient unit.Adults (N=62; age range, 40-65y): 32 with DM2 (19 subjects without DN and 13 with DN) and 30 without DM2 (control group).Not applicable.Upright balance, evaluated in 4 situations (fixed platform, unstable platform, with eyes open, with eyes closed), and functional strength, assessed with a five-times-sit-to-stand test, were analyzed using an electromagnetic system, with a sensor placed over C7 to allow maximum trunk displacements in the anterior-posterior and medial-lateral directions. The Berg Balance Scale and the Timed UpGo test were also used.Subjects with DM2 had greater anterior-posterior displacement (P.05) in the unstable platform with eyes closed condition compared with those without DM2, whereas no difference in medial-lateral displacement was observed between these groups. A difference in time was observed in the five-times-sit-to-stand test (P.05), with subjects in the control group performing the tasks faster than either group of subjects with DM2. Additionally, subjects in the control group showed a higher score in the Berg Balance Scale and performed the Timed UpGo test in less time compared with subjects in other groups.Subjects with DM2, with or without DN, showed deficits in postural control and functional strength compared with healthy individuals of the same age group.

Background Axonal regeneration depends on many factors, such as the type of injury and repair, age, distance from the cell body and distance of the denervated muscle, loss of surrounding tissue and the type of injured nerve. Experimental models use tubulisation with a silicone tube to research regenerative factors and substances to induce regeneration. Agarose, collagen and DMEM (Dulbecco’s modified Eagle’s medium) can be used as vehicles. In this study, we compared the ability of these vehicles to induce rat sciatic nerve regeneration with the intent of finding the least active or inert substance. The experiment used 47 female Wistar rats, which were divided into four experimental groups (agarose 4%, agarose 0.4%, collagen, DMEM) and one normal control group. The right sciatic nerve was exposed, and an incision was made that created a 10 mm gap between the distal and proximal stumps. A silicone tube was grafted onto each stump, and the tubes were filled with the respective media. After 70 days, the sciatic nerve was removed. We evaluated the formation of a regeneration cable, nerve fibre growth, and the functional viability of the regenerated fibres. Results Comparison among the three vehicles showed that 0.4% agarose gels had almost no effect on provoking the regeneration of peripheral nerves and that 4% agarose gels completely prevented fibre growth. The others substances were associated with profuse nerve fibre growth. Conclusions In the appropriate concentration, agarose gel may be an important vehicle for testing factors that induce regeneration without interfering with nerve growth.

Por avaliação retrospectiva, discriminam-se no presente estudo os diagnósticos sindrômicos topográficos e etiológicos aos quais se conseguiu chegar em 209 casos de neuropatias periféricas. A anamnese e o exame clínico-neurológico foram fundamentais para a realização dos diagnósticos sindrômicos e topográficos. A eletromiografia teve papel relevante, particularmente no que se refere aos diagnósticos topográficos. Os diagnósticos etiológicos dependeram, adicionalmente, de outros exames complementares, dentre os quais se destacam: glicemia e curva glicêmica; avaliação nutricional; avaliação familiar; biópsias de nervo, pele, faringe e seio maxilar; teste qualitativo para a presença de porfirinas na urina; ácido delta-aminolevulínico e porfobilinogênio urinários; exames radiológicos. As polineuropatias mais frequentemente encontradas foram as: etílico-carenciais, diabéticas, inflamatórias desmielinizantes agudas e hereditárias. As síndromes do túnel do carpo, as lesões traumáticas do VII nervo craniano e as neuralgias do trigêmeo foram os diagnósticos mais frequentes entre os de mono-neuropatias. A hanseníase, as lesões traumáticas! do plexo braquial e a síndrome do desfiladeiro torácico predominaram entre as multineuropatias. A retrospective study was conducted to identify the syndromic, topographic and etiological diagnoses made for a group of 209 patients with peripheral neuropathies. Anamnesis and clinical-neurological examination were of fundamental importance for the syndromic and topographic diagnoses. Electromyography played an important role, especially with respect to the topographic diagnoses. The etiological diagnoses depended on additional complementary tests such as: blood glucose levels and blood glucose tolerance test; nutritional evaluation; family evaluation; nerve, skin, pharynx and maxillary sinus biopsies; qualitative tests for the presence of porphyrins in urine; urinary levels of delta-aminolevulinic acid and porphobilinogen; and radiological examinations. The most frequently encountered polyneuropathies were those consequent to alcoholism or to diabetes, and those of the acute demyelinating inflammatory or hereditary type. Among the cases of mononeuropathy, the most frequently diagnosed conditions were carpal tunnel syndromes, traumatic injury to the VII cranial nerve, and trigeminal neuralgias. Leprosy, brachial plexus injury and thoracic outlet compression syndrome predominated among the multineuropathies.

Em 35 dentre os 209 pacientes (acometidos por neuropatias periféricas não se conseguiu estabelecer o diagnóstico etiológico. A média de idade foi 37,7 anos e a faixa etária preferencialmente acometida, entre 20 e 50 anos. A investigação laboratorial desses pacientes foi mais extensa que a dos com diagnóstico definido. A proporção entre exames laboratoriais normais e anormais foi 11:1. Os diagnósticos topográficos principais foram: poli-neuropatias axonais, 5 casos; multineuropatias e radiculopatias, 3 casos cada. Nossos adiados são discutidos e confrontados aos da literatura em relação às neuropatias de diagnóstico indefinido.

We present the case of a 62-year-old woman with abdominal segmental paresis consequent to radiculopathy caused by zoster, which was confirmed by electroneuromyography. The paresis resolved completely within three months. Recognition of this complication caused by zoster, which is easily misdiagnosed as abdominal herniation, is important for diagnosing this self-limited condition and avoiding unnecessary procedures.

O presente estudo tem por finalidade analisar aspectos gerais de população de 209 pacientes com neuropatias periféricas, atendidos no Hospital dias Clínicas de Ribeirão Preto no período de março-1985 a fevereiro-1987. Poucos são os trabalhos que avaliam pacientes com vista ao estudo dos fatores que contribuem ou não para o diagnóstico daquelas afecções. Os tipos de neuropatias encontrados, em ordem de frequência foram: polineuropatias, mono-neuropatias e multineuropatias. No primeiro grupo se destacaram as formas adquiridas e, no segundo, as lesões do plexo braquial. A média das idades foi 36,4 anos, com uma variação de 18 dias a 81 anos. O sexo masculino predominou, entre as polineuropatias, enquanto nas mo-noneuropatias o predomínio foi do feminino e nas multineuropatias a proporção entre os dois sexos foi semelhante. O tempo de seguimento dos pacientes foi menor que 6 meses para 52,6% dos casos e menor que 1 ano para 71,3%. Discutimos o significado e a importância de nossos achados. The objective of the present investigation was to study the general characteristics of a population of 209 patients with peripheral neuropathies seen tat the University Hospital of Ribeirão Preto from March 1985 to February 1987. Few studies have been devoted to the evaluation of patients in order to investigate the factors that may or may not contribute to the diagnosis of these conditions. The types of neuropathy detected, were (in decreasing order of frequency) : polyneuropathies, mononeuropathies and multineuropathies. Acquired forms were particularly outstanding in the first group and brachial plexus injuries in the second. Mean patient age was 36.4 years (range: 18 days to 81 years). Polyneuropathies prevailed among males and mononeuropathies among females, whereas multineuropathies equally affected males and females. Patient follow-up was less than 6 months for 52.6% of cases and less than one year for 7.3%. The significance and importance of these findings are discussed.

As etiologias de 209 casos de neuropatias periféricas foram estudadas levando-se em conta as respectivas faixas etárias mais acometidas, o sexo e a ocupação dos pacientes. As faixas etárias das polineuropatias etílico-carenciais, diabéticas, da síndrome de Guillain-Barré e das neuropatias sensitivo-motoras hereditárias em nosso grupo de pacientes foram as seguintes: 20 aos 50, 10 aos 70 e 0 aos 30 anos. A faixa etária dos pacientes com hanseníase e traumatismos de nervos foi: 20 aos 50 anos e, mais frequentemente, até 30 anos de idade. Houve franco predomínio de acometimento de pessoas do sexo masculino nas polineuropatias etílieo-carenciais e nas diabéticas. Predomínio do sexo feminino ocorreu nas lesões do nervo mediano e nas multirradiculopatias. Cerca de 1/3 das polineuropatias etílico-carenciais acometeram lavradores, A condição de inativo foi referida por 1/3 das pacientes com polineuropatias diabéticas, 25% das carenciais e 24% das indefinidas. The etiology of 200 cases of peripheral neuropathies was studied taking into account the most affected age ranges, as well as the sex and occupation of the patients. The age ranges of our patients for the polyneuropathies consequent to alcoholism, for diabetic polyneuropathy, for Guillain-Barré syndrome and for hereditary sensorimotor neuropathies were 20 to 50 years, 10 to 70 years and 0 to 30 years. The age range of patients with leprosy and nerve injury was 20 to 50 years, and more frequently up to 30 years. Alcoholic and diabetic polyneuropathies predominantly affected males, whereas injury to the median nerve and multiradiculopathies mainly affected women. Approximately 1/3 of the alcoholic polyneuropathies affected laborers. Inactivity was reported by 1/3 of the patients with diabetic polyneuropathies, by 25% of the patients with polyneuropathies consequent to alcoholism and by 24% of the patients with undefined polyneuropathies.