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Little is known about access of rare disease carriers to health care. To increase this knowledge, the Pan American Hereditary Ataxia Network (PAHAN) conducted an exploratory survey about care for hereditary ataxias in American continents and the Caribbean. A questionnaire was sent to health professionals about the hereditary ataxias identified; access to care; and local teaching and research. The number of ataxics under current care per 100,000 inhabitants was subtracted from the expected overall prevalence of 6/100,000, to estimate the prevalence of uncovered ataxic patients. Local Human Development Indexes (HDI) were used to measure socio-economic factors. Twenty-six sites participated. Twelve sites had very high, 13 had high, and one site had medium HDI. Participants reported on 2239 and 602 patients with spinocerebellar ataxias and recessive forms under current care. The number of patients under current care per inhabitants varied between 0.14 and 12/100,000. The estimated prevalence of uncovered ataxic patients was inversely proportional to HDIs (rho = 0.665, p = 0.003). Access to diagnosis, pre-symptomatic tests, and rehabilitation were associated with HDIs. More and better molecular diagnostic tools, protocols and guidelines, and professional training for ataxia care were the top priorities common to all respondents. Evidence of inequalities was confirmed. Lower HDIs were associated with high potential numbers of uncovered ataxic subjects, and with lack of molecular diagnosis, pre-symptomatic testing, and rehabilitation. More and better diagnostic tools, guidelines, and professional training were priorities to all sites. PAHAN consortium might help with the last two tasks., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Although motor symptoms in Parkinson's disease (PD) are well established, few studies have described the effects of exergaming on the clinical and functional outcomes of PD., Objectives: To analyze the effectiveness of exergaming in improving functional balance, fatigue, functional exercise capacity and quality of life in PD., Methods: The study population consisted of 20 patients (12 males and 8 females) aged 61 ± 9.11 years allocated into two groups: an exergaming group (EGG) (n = 10) and a conventional exercise, or control, group (CG) (n = 10). The following variables were evaluated: functional balance (Berg Scale), fatigue (Fatigue Severity Scale), functional exercise capacity (Six-Minute Walk Test) and quality of life (PDQ-39 Quality of Life Questionnaire)., Results: RM-ANOVA showed that balance and fatigue differed significantly between time points: balance [F(1.29, 23.33) = 4.16, p = 0.043] and fatigue [F(2,36) = 5.96, p = 0.006]. In both cases post hoc Bonferroni testing revealed an improvement after 12 weeks of exergaming (p = 0.033 and p = 0.000, respectively). However, this benefit was not sustained after 60 days of follow-up for either outcome. There were no differences in functional exercise capacity or quality of life between the two groups after 12 weeks of treatment., Conclusion: Exergaming was effective in enhancing balance and reducing fatigue in PD patients after 12 weeks of treatment, but this benefit was not sustained in the long-term., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

The purpose of this study was to investigate if botulinum neurotoxin type-A (BoNT/A) had a preemptive antinociceptive effect in a formalin-induced orofacial pain model (FT). To test this hypothesis, male Rattus norvegicus were injected with isotonic saline solution 0.9% or BoNT/A administered as a 40 μl bolus, lateral to their nose, at 24 hours, 8, 15, 22, 29 or 36 days pre-FT. The procedures were repeated 42 days later. Influence on motor activity was assessed through the open-field test. Pain scores corresponded to the time spent rubbing and flicking the injected area. Animals pre-treated with BoNT/A at the first protocol (8 days subgroup) showed reduced inflammatory scores (p=0.011). For the other groups no significant results were observed at any phase. Motor activity was similar in both groups. BoNT/A showed to be effective preventing inflammatory pain up to eight days after the first treatment, an effect not reproduced on the second dose administration.

Primary stabbing headache is an ultra-short headache, associated with primary headaches, more prevalent in women and with a poor response to therapy. The effect of botulinum neurotoxin type-A (BoNTA) on primary stabbing headache was investigated in 24 patients. Three patients showed complete remission. Nineteen patients showed a decrease in their primary stabbing headaches that started in the second week, and that was sustained during approximately 63 days. In two patients BoNTA showed no therapeutic effect. The BoNTA seems to be an excellent therapeutic option for primary stabbing headache.

Behr syndrome is an autosomal recessive disease characterized by early-onset ataxia, optic atrophy and other signs such as pyramidal tract dysfunction. Autosomal dominant inheritance has also been described. In this case report we present a family pedigree of patients with an inherited autosomal dominant Behr syndrome-like phenotype emphasizing their clinical and neuroimaging features.

Headache induced by acute exposure to a specific drug constitutes an idiosyncratic side effect. Metabolic imbalance appears as the leading aetiology, among several other hypotheses. Either primary headaches show a higher susceptibility to this idiosyncratic reaction or a drug-induced primary headache evolves in intensity and duration, becoming uncontrolled until the complete discontinuation of the drug in consideration. The goal of this study is to describe three patients diagnosed with migraine and epilepsy (both under control) who evolved into status migrainosus after the introduction of oxcarbazepine (OXC), as part of a switch off from carbamazepine (CBZ). Twenty-four to seventy-two hours following the switch, all patients developed intractable headache, despite the use of different symptomatic drugs. Complete recovery of the headache symptoms occurred only after OXC was discontinued. We discuss the potential mechanisms associated to OXC and status migrainosus, drug-induced headaches and uncontrolled headaches.

Professor Antonio Austregésilo was the pioneer of neurology in Brazil, creating the first neurologícal school, in Rio de Janeiro, of which he was the first professor. He was also the first to study the movement disorders in Brazil, publishing several works on this subject, primarily in "Revue Neurologique", and "L'Encephale", including a rival sign of Babinski and the first description of a posttraumatic dystonia.

We report a case of bilateral occlusion of internal carotid arteries, presenting with right hemiparesis and hypoesthesia, associated to meningovascular syphilis in a patient with AIDS. CT scan showed few small hypodense lesions, with a predominance on the left side, and the angiography showed bilateral occlusion of the carotid arteries. The association between syphilis and AIDS is not unusual, but the paucity of symptoms, probably due to a slow and gradual occlusion is not commonly reported.

Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by an unstable triplet repeat and can present as SCA in late onset patients. We investigated the frequency of the SCA1, SCA2, MJD/SCA3 and DRPLA mutations in 328 Brazilian patients with SCA, belonging to 90 unrelated families with various patterns of inheritance and originating in different geographic regions of Brazil. We found mutations in 35 families (39%), 32 of them with a clear autosomal dominant inheritance. The frequency of the SCA1 mutation was 3% of all patients; and 6% in the dominantly inherited SCAs. We identified the SCA2 mutation in 6% of all families and in 9% of the families with autosomal dominant inheritance. The MJD/SCA3 mutation was detected in 30% of all patients; and in the 44% of the dominantly inherited cases. We found no DRPLA mutation. In addition, we observed variability in the frequency of the different mutations according to geographic origin of the patients, which is probably related to the distinct colonization of different parts of Brazil. These results suggest that SCA may be occasionally caused by the SCA1 and SCA2 mutations in the Brazilian population, and that the MJD/SCA3 mutation is the most common cause of dominantly inherited SCA in Brazil.

A case of a large aneurysm of the middle cerebral artery that was treated by resection of the aneurysm sac and reconstruction of the vessel is presented. The middle cerebral artery was reconstructed using a graft from the superficial temporal artery (STA). Cerebral vessel reconstructions are usually carried out with veins as grafts. This paper shows the possibility of using the STA as a graft. When a vessel reconstruction is contemplated, the skin flap should be planned in order to save the STA.

The authors report a case of Isaacs syndrome observed in a 40 years old woman. The clinical picture included progressive muscular weakness, dysphagia, dysphonia, dyspnea and increased perspiration. Fasciculations, facial myokymia and pseudomyotonia were observed on physical examination. Electromyographic study at rest revealed continuous electrical muscle activity. Muscle histochemistry showed type II fibers atrophy and an ultrastructural study of the gastrocnemius muscle disclosed marked cysternal dilatation of the sarcoplasmatic reticulum. An excellent clinical response was observed with the use of carbamazepine. Some recent aspects of this rare syndrome are reviewed and discussed.