ABSTRACT
BACKGROUND AND PURPOSE: Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been associated with Parkinson's disease (PD), and the majority of the pathogenic variants are located in the ROC and MAPKKK domains. METHODS: Exons 29-31 and 38-44 (ROC and MAPKKK domains) were sequenced in 204 patients with PD, mostly Brazilian. RESULTS: We identified four polymorphisms, a novel silent variant p.R1398R and four substitutions: p.T1410M, p.G2019S, p.Y2189C and the novel variant p.C2139S. CONCLUSIONS: The most prevalent mutation was the p.G2019S (2.4%). We consider that the p.T1410M and the p.Y2189C variants are probably polymorphisms and that the p.C2139S mutation is potentially pathogenic.
Subject(s)
Exons , Parkinson Disease/genetics , Protein Serine-Threonine Kinases/genetics , Aged , Brazil , Female , Genetic Predisposition to Disease , Genotype , Humans , Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 , Male , Middle Aged , Mutation , Sequence Analysis, DNA/methodsABSTRACT
The experience with 64 patients with dystonia seen at the Extrapyramidal Diseases Sector of the Neurology Department of the Hospital Universitário Clementino Fraga Filho of the UFRJ is presented as well as the pertinent review of the literature. The five-and-a-half-year of follow-up showed that 33 were male and 31 female; 48 were white, 10 mulatto and 6 negro; the mean time of disease was 9 years and 8 months. According to the distribution of the movement disorder, 30 (46.9%) were focal, 17 (26.6%) segmental, 13 (20.3%) generalized, 3 (4.7%) hemidystonia and 1 (1.5%) multifocal. In 11 (17.2%) the age of onset was before 12 years old, in 6 (9.4%) between 13 and 20 years old, and in 47 (73.4%) after 20 years old. According to the etiology, 39 (60.9%) were idiopathic sporadic, 6 (9.4%) were idiopathic familial and 19 (29.7%) were symptomatic. The therapeutical approach used in these patients were anticholinergic drugs, dopaminergic agonists or antagonists and baclofen, alone or associated with anticholinergic drugs for generalized dystonia. The authors conclude that botulinum toxin type A is the most valuable therapeutic agent in the treatment of focal dystonia.
Subject(s)
Dystonia , Adolescent , Adult , Aged , Aged, 80 and over , Child , Dystonia/physiopathology , Dystonia/therapy , Female , Follow-Up Studies , Humans , Male , Middle AgedABSTRACT
The effects of botulinum toxin type A were studied in 33 patients with dystonia (12 blepharospasms, 10 hemifacial spasms and 11 spasmodic torticollis). A rate scale was used to evaluate the severity of the dystonic movements, before and two weeks after each injection. Among blepharospasm patients, eight were female and four were male; the mean age was 57.7 years; the mean time of the disease duration was four years. Three had familial history for similar disease; nine were essential and three had used neuroleptic drugs (tardive dystonia). The mean dose used was 51.3 U, with a mean time of beneficial effects of 2.8 months. For 22 injections and reinjections, 14 (63.7%) showed an excellent result, five (22.7%) good and three (13.6%) null. In the hemifacial spasm group, eight were female and two male; the mean age was 52.6 years; the mean time of the disease duration was 7.4 years; eight were essential and two post-paralytic. The mean dose used was 32 U. From the total of 15 injections and reinjections, all of them (100%) had an excellent result, with a mean time of beneficial effect of 3.4 months. Among the cervical dystonic patients, eight were male and three female; the mean age was 44.2 years; the mean time of the disease duration was 12.2 years; six had essential dystonia, three had used neuroleptic drugs and two had familial history for similar disease. The mean dose used was 238.6 U, with the mean duration of effect of 3.5 months. From the total of 20 injections and reinjections, 18 (90%) had good result, one (5%) mild and one (5%) null.(ABSTRACT TRUNCATED AT 250 WORDS)
Subject(s)
Blepharospasm/therapy , Botulinum Toxins/therapeutic use , Dystonia/therapy , Facial Muscles/physiopathology , Neck Muscles/physiopathology , Spasm/therapy , Adult , Aged , Female , Humans , Injections, Intramuscular , Injections, Subcutaneous , Male , Middle Aged , Severity of Illness Index , Time Factors , Torticollis/therapyABSTRACT
The concept of tic was developed at the end of the XIX century, emerging from the "chaos of choreas". Tic is defined as involuntary contractions of agonist and antagonist muscles in one or more parts of the body. It can be suppressed by voluntary efforts for seconds or hours, followed by exacerbations. Gilles de la Tourette's original article was published in 1885, in which he described nine patients with tics, and vocalisations. The pathogenesis of Gilles de la Tourette syndrome remained obscure. However, three factors have been considered: the neurochemical factor, related to the increased dopaminergic activity at the basal ganglia; the genetic factor and the non-genetic factors, for which environment more than genetic factors are involved. Pathologic examinations failed to reveal structural lesions, but PET studies showed metabolic hypofunction on the frontal, cingulate and possibly insular cortex, and on the inferior corpus striatum. The motor tics as well as the vocal tics can be simple or complex and are present in all patients. Other signs can be added to the previous tics: sensory tics, echophilia, coprophilia, obsessions, compulsions and impulsions. Diagnostic criteria of Gilles de la Tourette syndrome are based on: age of onset; presence of motor and vocal tics; voluntary suppression of the movements; variation in number, type, location and severity of tics; duration of more than one year. Haloperidol is the drug of choice for the treatment of Tourette's syndrome.
Subject(s)
Tic Disorders/history , Tourette Syndrome/history , Adolescent , Adult , Child , Diagnosis, Differential , Female , France , History, 17th Century , History, 18th Century , History, 19th Century , History, 20th Century , Humans , Male , Sex Factors , Tourette Syndrome/diagnosis , Tourette Syndrome/etiology , Tourette Syndrome/physiopathology , Tourette Syndrome/therapyABSTRACT
The basal ganglia calcification is known since the last century but with the new neuroimage techniques (CT scan) its diagnosis became more frequent specially in asymptomatic patients. The authors report a case with non-familial primary diffuse encephalic calcification with exuberant calcifications on cerebral hemispheres, cerebellum and brain stem, seen on CT scan.
Subject(s)
Basal Ganglia Diseases/diagnostic imaging , Brain Diseases/diagnostic imaging , Calcinosis/diagnostic imaging , Humans , Male , Middle Aged , Tomography, X-Ray ComputedABSTRACT
A 70 years-old man was admitted at our hospital because of unstable angina pectoris. He had essential hypertension and right hemiplegia from a ischemic stroke two years before admission. On neurologic examination, it was found mental disorientation, unstable emotionality, right spastic hemiparesis with right Babinski sign, and segmental myoclonus affecting the superior lip and the palate (palatal nystagmus) on the right side. On the CT scan, a giant aneurysm of the basilar artery was detected. We conclude that the segmental myoclonus could be explained by ischemic lesions in the Guillain-Mollaret triangle.
Subject(s)
Basilar Artery , Intracranial Aneurysm/complications , Myoclonus/complications , Aged , Basilar Artery/diagnostic imaging , Humans , Intracranial Aneurysm/diagnostic imaging , Male , Myoclonus/diagnostic imaging , Tomography, X-Ray ComputedABSTRACT
A thorough review of history, pathophysiology, clinical manifestations, diagnosis and treatment of syringomyelia is presented by the authors, followed by a case report in which the diagnosis was confirmed by magnetic resonance imaging.