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Biomedical subjects

Renato P Munhoz

Publications and source records attributed to Renato P Munhoz.

16 recordsLinked to original sources
PubMed2006

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).

We describe a Brazilian family in which inheritance of a G106R mutation in the SPG6 gene (also know as NIPA1) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia. All patients presented with gait difficulty in their twenties, progressing to frank spastic paraplegia during the next decade. Our report further supports evidence that mutations in SPG6 cause ADHSP.

Adult↗
PubMed2005

Movement disorders secondary to long-term treatment with cyclosporine A.

OBJECTIVE: To analyze the prevalence, severity and functional interference of movement disorders (MD) secondary to chronic use of cyclosporine A (CsA). METHOD: We conducted a cross-sectional study of 60 patients (58.3% male) with mean age 23.1 (3-75) years, followed at the Bone Marrow Transplantation Service of the Hospital de Clínicas of the Federal University of Paraná, Brazil, taking CsA for at least six months. Our protocol included clinical data, assessment of functional interference of symptoms and neurological examination including observation and grading of MD. RESULTS: Eight (13.3%) subjects reported the presence of tremor at the moment of interview and 29 (48.3%) recalled this symptom at some point during treatment. Neurological examination identified 14 (23.3%) subjects with MD: upper limb symmetric action tremor in 13 (21.6%) and parkinsonism (rigidity and bradykinesia) in 1 (1.7%). No other MD was detected. The mean scores indicated mild clinical signs in all cases. Symptoms were considered subjectively mild with no functional interference. CONCLUSION: Almost one quarter of patients using CsA chronically presented MD, almost always mild and transitory action tremor, with minimal interference on daily living activities, not requiring any form of intervention in the majority of cases.

Adult↗
PubMed2005

Status Dystonicus: study of five cases.

Status Dystonicus (SD) is characterized by generalized muscle contractions in dystonic patients. We report 5 cases of SD, two of which in patients with dystonic cerebral palsy, one in a patient with primary segmental dystonia, one in a patient with Hallervorden-Spatz syndrome and one in a patient with Wilson's disease (WD). Three patients were admitted to an intensive care unit and treated with propofol and midazolam, and two were submitted to neurosurgical procedures (bilateral pallidotomy and bilateral pallidal deep brain stimulation). Triggering factors were identified in three patients as follows: infection, stress-induced and zinc therapy for WD. On follow-up, two patients presented with significant improvement of dystonia, whereas the other three cases the clinical picture ultimately returned to baseline pre-SD condition.

Adult↗
PubMed2005

Frequency of obsessive and compulsive symptoms in patients with blepharospasm and hemifacial spasm.

BACKGROUND: Blepharospasm (BS) is a form of central focal dystonia recently associated with psychiatric disorders, particularly obsessive and compulsive symptoms. Hemifacial spasm (HFS) represents a focal myoclonus with peripheral origin in the facial nerve. OBJECTIVE: To determine the frequency of obsessive and compulsive symptoms in patients with BS in comparison with patients with HFS. METHODS: 30 patients from each group (BS and HFS) followed by the botulinum toxin clinic at the HC-UFPR were evaluated using a structured interview based on the DSM-IV criteria and the Yale-Brown scale. Results were compared by the mean two-tailed t test. RESULTS: We found obsessive or compulsive symptoms in 20 (66.6%) patients with BE and 21 (70%) with HFS. Yale-Brown scale scores for each group were higher among BS patients; however, diferences were not statisticaly significant. CONCLUSION: Our study did not show a significant diference in the comparison of the prevalence of obsessive and compulsive symptoms among patients with BS and HFS.

Adult↗
PubMed2004

Clinical findings in a large family with a parkin ex3delta40 mutation.

OBJECTIVE: To describe a large consanguineous family in which inheritance of a 438- to 477-base pair deletion in exon 3 (Ex3Delta40) in the parkin gene resulted in parkinsonism (age range at onset, 24-32 years). DESIGN: Fifty-two family members underwent genetic analysis. MAIN OUTCOME MEASURE: Two clinical examiners blinded to genetic status evaluated 21 family members, including all mutation carriers (4 homozygous and 12 heterozygous individuals; 5 family members did not have the mutation). RESULTS: In this family, the parkin Ex3Delta40 mutation is recessive; only homozygotes manifest symptoms of early-onset levodopa-responsive parkinsonism, including resting tremor, dystonia, and slow progression, with the caveat that presymptomatic signs of dopaminergic loss in heterozygotes must be excluded by fluorodopa F 18 with positron emission tomography. This contrasts with the autosomal dominant pattern of inheritance of parkinsonism described in families with the same mutation. CONCLUSION: In families with a dominant inheritance, an additional genetic or environmental cause must coexist with the Ex3Delta40 mutation.

Adult↗
PubMed2004

Gestes antagonistes in psychogenic dystonia.

We report on a patient with psychogenic craniocervical dystonia who had complete amelioration of her dystonia using typical gestes antagonistes. This exceptional case underlines the lack of specificity of these maneuvers for organic dystonia when confronted with more obvious clinical clues.

Accidents, Traffic↗
PubMed2004

Parkinson's disease and thyroid dysfunction.

BACKGROUND: Although no causal linkage between hypothyroidism and Parkinson's disease (PD) has been demonstrated so far, both share common manifestations and coexistence can be a source of diagnostic delay and confusion. PURPOSE: To assess thyroid function in patients with PD. SCOPE: Ninety-five PD patients and 102 age-matched controls were assessed for hypothyroidism through clinical evaluation and laboratory screening. RESULTS: In the PD group 13.7% were hypothyroid versus 10.8% in the control group. Statistical analysis did not show a significant difference (p = 0.3681). CONCLUSION: Although hypothyroidism was not more prevalent in our PD patients in comparison with the control group, we believe that given the potential overlap of symptoms and signs, thyroid function should be assessed in patients showing worsening of symptoms that cannot be explained by disease progression or resistance to therapy adjustment; screening should take into account the particular acute effect of levodopa on serum TSH levels.

Aged↗
PubMed2003

The fragile X premutation presenting as essential tremor.

CONTEXT: The fragile X premutation has recently been reported to be associated with a neurodegenerative syndrome, chiefly characterized by intention tremor, gait ataxia, and executive cognitive deficits in men older than 50 years. Essential tremor is a frequent cause of tremor in elderly patients and in some cases is associated with impaired tandem gait and cognitive deficits. OBJECTIVE: To describe 2 fragile X carriers whose clinical presentation mimicked essential tremor. DESIGN: The 2 patients described herein underwent neurologic examinations by experienced movement disorders neurologists, magnetic resonance imaging, and fragile X gene, messenger RNA, and protein analyses. One underwent detailed neuropsychological testing. SETTING: Patients were studied at 2 large university movement disorders clinics. PATIENTS: Both patients were white men older than 50 years who had been diagnosed as having essential tremor and then found to be fragile X carriers. RESULTS: Besides disabling intention tremor, the 2 patients had impaired tandem, generalized brain atrophy, and unusual bilateral T2 middle cerebellar hyperintensities on magnetic resonance imaging. The patient who underwent neuropsychological testing had frontal executive deficits. Both patients had elevated fragile X mental retardation gene 1 messenger RNA and reduced fragile X mental retardation 1 protein levels. CONCLUSION: The fragile X carrier state may underlie the clinical findings in some older men diagnosed as having essential tremor.

Aged↗
PubMed2003

Acute effect of transcutaneous electrical nerve stimulation on tremor.

Based on the claims that transcutaneous electrical nerve stimulation is effective in myoclonic dystonia and essential tremor, we evaluated its acute effects in 5 patients with essential tremor and 2 patients with tremor attributed to peripheral neuropathy using as parameters the Washington Heights-Inwood Genetic Study of Essential Tremor rating scale, self-reported impression, and recording of electromyographic activity. We found no significant improvement in any of the parameters tested.

Aged↗
PubMedDate not supplied

Serotonin syndrome induced by a combination of bupropion and SSRIs.

Serotonin syndrome (SS) is a potentially fatal complication of the combined use of agents that enhance serotonin activity. Bupropion inhibits noradrenaline and dopamine reuptake with milder effects on serotonergic activity. Although regarded as a potential causative agent for SS, no cases have been reported in the medical literature. A 62-year-old woman treated with therapeutic dosages of bupropion and sertraline for depression for the previous 3 weeks presented with upper extremity myoclonic jerks, clumsiness, and gait difficulties with fluctuating symptoms of confusion, forgetfulness, and the alternation of agitation and lethargy. Symptoms were interpreted as an aggravation of depression and venlafaxine was added. The clinical picture progressed to alteration of consciousness and dysautonomia. After admission, medications were discontinued and she was started on cyproheptadine and clonazepam with gradual improvement and complete resolution of symptoms. This is a rare report of SS related to the association of bupropion and selective serotonin reuptake inhibitors (SSRIs). It also illustrates the potential for misinterpretation of the earliest manifestations of SS as signs of aggravation of the patient's underlying condition. The role of bupropion in SS is possibly related to its well-established specific inhibition of the cytochrome P450 2D6 pathway, increasing blood levels of SSRIs and tricyclic antidepressants.

Antidepressive Agents, Second-Generation↗