[Isaacs' syndrome. Report of three cases]. / Síndrome de Isaacs. Relato de três casos.

We report two females, and one male with Isaacs' syndrome. The patients presented with clinical myokymia activity, muscle cramps, delayed relaxation, and muscle hypertrophy and increased sweating. Needle electromyography in several muscles showed generalized continuous motor unit discharges, myokymic discharges, and normal nerve conduction studies. Muscle biopsy showed type two fiber atrophy. Treatment with carbamazepine was effective in two cases and prednisone in one.

Tics and Tourette syndrome: clinical evaluation of 44 cases.

We evaluated 44 patients with tics and Tourette's syndrome (TS) emphasising the age of onset of symptoms, sex, classification and localization of tics, associated symptoms and signs and comorbidities. Thirty-three patients (75.2%) had TS defined criteria whereas 10 (22.7%) had chronic motor and/or vocal tics. Simple motor tics were found in 43 cases (97.7%), mainly affecting the eyes (43.2%), mouth (43.2%), face (34.1%). Simple vocal tics occurred in 33 (75%). Coprolalia was found in just 6 cases (13.6%) and copropraxia in just 2 (4.5%). Obsessive compulsive disorder and/or symptoms were found in 26 cases (59.1%) and attention deficit in 17 (38.6%). Eighteen patients (40.9%) had other disorders, such as alcoholism, tabagism, drug abuse, affective disorders, anxiety, sleep and learning disorders. The data obtained are similar to those found by other authors. We highlight the low frequency of coprolalia, as well as the associated neuropsychiatric disorders.

[Clinical and therapeutical features in 135 patients with dystonia: experience of movement disorders unity of the Hospital de Clínicas of the Universidade Federal do Paraná]. / Aspectos clínicos e terapêuticos em 135 pacientes com distonia. Experiência do Setor de Distúrbios do Movimento do Hospital de Clínicas da Universidade Federal do Paraná.

This study aims to describe the clinical patterns and therapeutic responses in 135 patients with dystonia. According to the classification, 54% were focal; 17.8% were segmental; 8.1% hemidistonia; 18.6% generalized and 1.5% were multifocal. There was a positive familial history in 5.9% of the cases. The treatment of the idiopathic dystonias is divided in: specific and symptomatic, and it can be local with botulinum toxin, or systemic with oral drugs. The most common drugs used in the treatment were anticholinergics and benzodiazepines, with poor responses in the generalized forms. Botulinum toxin A was the first line treatment for focal and segmental forms of dystonia. Meanwhile, the generalized forms of dystonia show poor response to the therapies utilized.

Neuro-Behçet: report of three clinically distinct cases.

We report three patients who collectively have very representative clinical forms of neuro-Behçet and different neurological findings. The first case, male, 49 years old, presents symptoms similar to multiple sclerosis. The second case, male 15 years old, presents with parenchymatous compromise and an association with antiphospholipid antibody. And the third case, female 25 years old, presents an acute meningitis. Neuro-Behçet must always be included as a differential diagnosis of neurological disorders that have any difficulties in establishing a definite diagnosis.

The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease.

A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families.