Walter O. Arruda

Clinical phenotype of Brazilian families with spinocerebellar ataxia 10

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patients from five new Brazilian families. All 28 patients showed cerebellar ataxia without epilepsy, suggesting that the phenotypic expression of the SCA10 mutation differs between Brazilian and Mexican families.

Spinocerebellar ataxia type 10 – A review

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant inherited ataxia caused by an expanded ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene, on chromosome 22q13.3. SCA10 represents a rare form of SCA, until now only described in Latin America, particularly in Mexico, Brazil, Argentina and Venezuela. In Mexico and Brazil SCA10 represents the second most common type of autosomal dominant cerebellar ataxia. The phenotype described in Mexico, is characterized by the association of cerebellar ataxia with epilepsy, while in Brazil the SCA10 phenotype is that of a pure cerebellar ataxia. As yet unidentified genotypic variables may account for this phenotypic difference.

NMO-IgG positive neuromyelitis optica in a patient with myasthenia gravis but no thymectomy

Here we report on a 44-year old woman presenting with both myasthenia gravis (MG) and neuromyelitis optica (NMO). MRI showed transverse myelitis extending from C2 to T4, multifocal demyelinating lesions in the supratentorial white matter, and left optic neuritis. Serological analysis demonstrated antibodies to acetylcholine receptors as well as NMO-IgG. To our knowledge, this is the first case of NMO-IgG positive NMO in a patient with MG but no history of thymectomy or immunosuppression.

Ataxia-telangiectasia — A historical review and a proposal for a new designation: ATM syndrome

The authors review ataxia telangiectasia, emphasizing historical aspects, genetic discoveries, and the clinical presentations of the classical and atypical forms. In fact, ataxia telangiectasia represents a multisystem entity with pleomorphic neurological and systemic manifestations. ATM syndrome is proposed as a more adequate designation for this entity.

Spinocerebellar Ataxia Type 10: Frequency of Epilepsy in a Large Sample of Brazilian Patients

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and epilepsy. Interestingly, Brazilian patients reported so far showed pure cerebellar ataxia, without epilepsy. Here, authors provide a systematic analysis of the presence, frequency and electroencephalographic presentation of epilepsy among 80 SCA10 patients from 10 Brazilian families. Overall, the frequency of epilepsy was considered rare, been found in 3.75 % of the cases while this finding in populations from other geographic areas reaches 60% of SCA10 cases.

Neurocysticercosis an epidemiological survey in two small rural communities

The authors describe the epidemiological findings related to human taeniasis and cysticercosis, and swine cysticercosis in two small rural communities, Postinho (P) and Tigre (T), of South Brazil. The prevalence of epilepsy was 2.04% (P) and 2.25% (T). The prevalence of neurocysticercosis was 0.47% (P) and 0.93% (T), and prevalence of swine cysticercosis was 12.8% (P) and 27.8% (T). Taenia sp. infestation was detected in 4.3% (P) and 4.6% (T) of stool examinations. The hyperendemic human taeniasis and cysticercosis and swine cysticercosis seems to be related to poor hygienic habits of the population, and the free access to human excreta by the pigs.

Neurocisticercose: diagnóstico tomográfico em pacientes neurológicos

Neurocysticercosis (NC) is the most common parasitic disease of the central nervous system and accounts for a significant proportion of morbidity and mortality, in special epilepsy. The authors reviewed 3093 computed tomography scans out of 2554 randomized neurological patients evaluated during a one year period. Most patients (77.3%) were living in Curitiba, Parana, Brazil. 1821 (58.9%) CT scans were normal. NC was diagnosed in 236 patients based on tomographic criteria; the sex ratio was F:M 1.6:1. 219 (92.8%) patients had the inactive form of NC: 195 (89%) had only isolated intraparenchymal calcifications, and 24 calcifications plus hydrocephalus. Active forms were observed in 14 patients: 8 with degenerating cysts, 4 with viable cysts, 1 with intraventricular cyst, and 1 with racemose form. Three patients had both forms, active (cysts) and inactive (calcifications). The most common clinical finding among patients with tomographic diagnosis of NC was headache alone (35.5%), followed by epilepsy (20.9%). There is a potential role of NC as a causal factor of epilepsy in most of our patients, but surely not in all of them. On the other hand, the finding of inactive NC (calcifications without hydrocephalus and/or meningitic reaction) in patients with headache is probably fortuitous in most cases. In fact, the occasional finding of isolated calcifications in general population is not quite rare, as it was observed in 3.3% of another series of 973 patients with head trauma submitted to CT scan and without epilepsy previous history. The presence of CT findings compatible with NC, especially calcifications, must be carefully correlated with the clinical context in each case. Only then, an unequivocal cause-effect with all its medical and epidemiological implications role can be established.Neurocysticercosis (NC) is the most common parasitic disease of the central nervous system and accounts for a significant proportion of morbidity and mortality, in special epilepsy. The authors reviewed 3093 computed tomography scans out of 2554 randomized neurological patients evaluated during a one year period. Most patients (77.3%) were living in Curitiba, Paraná, Brazil. 1821 (58.9%) CT scans were normal. NC was diagnosed in 236 patients based on tomographic criteria; the sex ratio was F:M 1.6:1. 219 (92.8%) patients had the inactive form of NC: 195 (89%) had only isolated intraparenchymal calcifications, and 24 calcifications plus hydrocephalus. Active forms were observed in 14 patients: 8 with degenerating cysts, 4 with viable cysts, 1 with intraventricular cyst, and 1 with racemose form. Three patients had both forms, active (cysts) and inactive (calcifications). The most common clinical finding among patients with tomographic diagnosis of NC was headache alone (35.5%), followed by epilepsy (20.9%). There is a potential role of NC as a causal factor of epilepsy in most of our patients, but surely not in all of them. On the other hand, the finding of inactive NC (calcifications without hydrocephalus and/or meningitic reaction) in patients with headache is probably fortuitous in most cases. In fact, the occasional finding of isolated calcifications in general population is not quite rare, as it was observed in 3.3% of another series of 973 patients with head trauma submitted to CT scan and without epilepsy previous history. The presence of CT findings compatible with NC, especially calcifications, must be carefully correlated with the clinical context in each case. Only then, an unequivocal cause-effect with all its medical and epidemiological implications role can be established.

Neurological disorders associated with glutamic acid decarboxylase antibodies: a Brazilian series

Neurological disorders associated with glutamic acid decarboxylase (GAD) antibodies are rare pleomorphic diseases of uncertain cause, of which stiff-person syndrome (SPS) is the best-known. Here, we described nine consecutive cases of neurological disorders associated with anti-GAD, including nine patients with SPS and three cases with cerebellar ataxia. Additionally, four had hypothyroidism, three epilepsy, two diabetes mellitus and two axial myoclonus.

Comparison of MRI-guided and ventriculography-based stereotactic surgery for Parkinson's disease

Stereotactic surgery for Parkinsons disease can be performed using different neuroimaging methods. Ventriculography has been used to locate the coordinates of the structures close to the third ventricle. Although it has several potential disadvantages related to the intraventricular injection of iodine contrast, it is considered a precise method. Computed tomography and magnetic resonance imaging have been used in some centers. In order to compare their efficacy, 50 stereotactic thalamotomies for Parkinsons disease were performed using either ventriculography (VE) (25) or magnetic resonance imaging (MRI) (25). In 14 out of 25 VE procedures, computed tomography (CT-scan) was also used and showed a significant mean difference of coordinate Y and Z. The clinical results employing either VE or MRI were similar, with 80% abolition of tremor in the VE group, and 84% in the MRI group, after a follow up period of at least 3 months. Another 12% of VE and 16% of MRI group showed significant improvement of tremor. Complication rate was 4% in both groups. MRI-guided stereotactic thalamotomy in Parkinsons disease has shown good clinical results, comparable to VE-guided stereotaxis.

Pineal metastasis as first clinical manifestation of colorectal adenocarcinoma: case report

Cerebral metastases from colorectal adenocarcinomas occur in 8% of the cases. Diagnosis is usually made when primary disease and widespread metastases are already known. We report the case of a patient with single metastases in the pineal region as the first clinical manifestation of a colorectal adenocarcinoma. A 48-year-old female with Parinauds syndrome for 15 days prior her admission was evaluated in our clinic. She had no symptoms or signs of colorectal disease. MRI examination revealed an heterogeneous lesion with peritumoral gadolinium enhancement, located in the pineal region. The tumor was radically resected through an infratentorial/supracerebellar approach. Histology showed metastatic carcinoma and immunohistochemical examination showed gastrointestinal tract adenocarcinoma. Metastases to the pineal region are extremely rare and should be considered in the differential diagnosis of tumors of this region.