RESUMEN
There are three types of autosomal recessive disorders involving pathogenic variants in the ALS2 gene (OMIM*606352), infantile ascending hereditary spastic paraplegia (IAHSP), juvenile primary lateral sclerosis (JPLS) and juvenile amyotrophic lateral sclerosis (JALS), which are rare and related to retrograde degeneration of motor neurons. ALS2 pathogenic variants are distributed widely across the entire coding sequence and mostly result in a loss of protein function. Rarely, patients with JALS have been reported with lower motor neuron involvement. Here, we report the first Brazilian cohort (six patients) of JPLS with novel ALS2 pathogenic variants, and we propose an expanding clinical and genetic spectrum of alsin-related disorders. A review of the literature in PubMed from 2001 to September 2020 allowed us to identify 26 publications about the three different phenotypes caused by ALS2 variants (only case reports or families), encompassing 35 nonrelated families. We compiled data (sex, age, age at onset, first symptoms, atypical clinical features, molecular data, and clinical evolution (improvement or death)) from these studies and analyzed them in a general context on the basis of demographic features.
Asunto(s)
Esclerosis Amiotrófica Lateral , Enfermedad de la Neurona Motora , Paraplejía Espástica Hereditaria , Esclerosis Amiotrófica Lateral/epidemiología , Esclerosis Amiotrófica Lateral/genética , Esclerosis Amiotrófica Lateral/patología , Brasil/epidemiología , Factores de Intercambio de Guanina Nucleótido/genética , Humanos , Enfermedad de la Neurona Motora/genética , Paraplejía Espástica Hereditaria/genéticaRESUMEN
BACKGROUND: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant spinocerebellar ataxia caused by pathological expansion of CAG trinucleotide repeats in the ATN1 gene. Most cases were described in patients from Japanese ancestry who presented with adult-onset progressive cerebellar ataxia associated with cognitive impairment, choreoathetosis and other movement disorders. DRPLA has been rarely described in Brazilian patients. METHODS: We performed a retrospective observational multicentric study including six different Neurology Centers in Brazil. All patients with genetically confirmed diagnosis of DRPLA had their medical records evaluated and clinical, genetic and neuroimaging features were analyzed. RESULTS: We describe of eight Brazilian patients (5 male, 3 female) from four nuclear families with genetically confirmed DRPLA. The most common neurological features included cerebellar ataxia (nâ¯=â¯7), dementia (nâ¯=â¯3), chorea (nâ¯=â¯2), psychiatric disturbances (nâ¯=â¯2), progressive myoclonic epilepsy (nâ¯=â¯2) and severe bulbar signs (nâ¯=â¯1). Progressive myoclonic epilepsy was observed in two juvenile-onset cases before 20-year. A large CAG trinucleotide length was observed in the two juvenile-onset cases and genetic anticipation was observed in all cases. Neuroimaging studies disclosed cerebellar atrophy (nâ¯=â¯6), as well as brainstem and cerebellar atrophy (nâ¯=â¯2) and leukoencephalopathy (nâ¯=â¯1). CONCLUSION: The patients described herein reinforce that clinical features of DRPLA are highly influenced by age of onset, genetic anticipation and CAG repetition lengths. There is a large complex spectrum of neurological features associated with DRPLA, varying from pure cerebellar ataxia to dementia associated with other movement disorders (myoclonus, choreoathetosis). DRPLA is an unusual cause of cerebellar ataxia and neurodegeneration in Brazilian patients.
Asunto(s)
Pueblo Asiatico/genética , Epilepsias Mioclónicas Progresivas/etnología , Epilepsias Mioclónicas Progresivas/genética , Proteínas del Tejido Nervioso/genética , Repeticiones de Trinucleótidos/genética , Adolescente , Adulto , Brasil , Ataxia Cerebelosa/etnología , Ataxia Cerebelosa/genética , Niño , Demencia/etnología , Demencia/genética , Femenino , Humanos , Japón/etnología , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/etnología , Trastornos del Movimiento/genética , Neuroimagen , Estudios Retrospectivos , Adulto JovenRESUMEN
Intermediate-length cytosine-adenine-guanine nucleotide repeat expansions in the ATXN2 gene (which encodes for the protein Ataxin-2) have been linked to increased risk for amyotrophic lateral sclerosis (ALS) in different populations. There is no such study in the Brazilian population, which has a mixed ethnic background. We have thus selected 459 patients with ALS (372 Sporadic ALS and 87 Familial ALS) and 468 control subjects from 6 Brazilian centers to investigate this point. We performed polymerase chain reaction to determine the length of the ATXN2 alleles. Polymerase chain reaction products were resolved using capillary electrophoresis on ABI 3500 × l capillary sequencer. We found that ATXN2 intermediate-length expansions (larger than 26 repeats) were associated with an increased risk for ALS (odds ratio = 2.56, 95% confidence interval: 1.29-5.08, p = 0.005). Phenotype in patients with and without ATXN2 expansions was similar. Our findings support the hypothesis that ATXN2 plays an important role in the pathogenesis of ALS also in the Brazilian population.
Asunto(s)
Esclerosis Amiotrófica Lateral/genética , Ataxina-2/genética , Predisposición Genética a la Enfermedad , Expansión de Repetición de Trinucleótido , Brasil , Estudios de Asociación Genética , Humanos , Factores de RiesgoRESUMEN
INTRODUCTION: The concept of assistive technology covers several areas of action; one of them is communication with the elaboration of accessible solutions to overcome daily difficulties. It contributes to the resumption of functional abilities, expanding and facilitating inclusion and independent living. OBJECTIVE: To analyze the usability of a low cost prototype device to support educational activities of adolescents with cerebral palsy. METHODS: A descriptive observational study. The evaluation of a prototype device was made through a validated questionnaire, Quest Version 2.0, on the level of the user's satisfaction with an assistive technology, composed of 12 evaluation items. The questionnaire was filled out by the educator based on the observation of four wheelchair-bound participants diagnosed with cerebral palsy according to the international classification of diseases and health-related problems, ICD-10, who attend a coexistence and teaching institution in the state of São Paulo, Brazil. RESULTS: The device developed was considered an assistive technology, which provided an experience with a positive level of satisfaction for the participants. CONCLUSION: The tested prototype contributes to communication and interaction allowing adolescents with cerebral palsy to participate in educational activities. Implications for Rehabilitation The device assists the individual in the educational activities and can positively influence their development, observe the individual number 5, who has an important limitation in coordination and fine movements, placing the role of the task in the vertical position offers a new perspective to perform the task, this stimulates him to try to perform the work, so the challenge was adjusted to the demands of each individual which can contribute to its neuromotor development, the amplitude of the distal movements and the manual ability, since it must look for alternatives to complete the task requested.
Asunto(s)
Parálisis Cerebral/rehabilitación , Personas con Discapacidad/rehabilitación , Educación/métodos , Dispositivos de Autoayuda , Adolescente , Brasil , Femenino , Humanos , Masculino , Grupo de Atención al Paciente , Satisfacción del Paciente , Índice de Severidad de la Enfermedad , Adulto JovenAsunto(s)
Parálisis Facial/diagnóstico por imagen , Parálisis Facial/etiología , Pérdida Auditiva Sensorineural/diagnóstico por imagen , Pérdida Auditiva Sensorineural/etiología , Cirrosis Hepática/complicaciones , Cirrosis Hepática/diagnóstico por imagen , Adulto , Femenino , Humanos , Imagen por Resonancia MagnéticaRESUMEN
We are reporting a case of a 29 year-old female with diagnosis of myotonic dystrophy type 1 (Steinert's disease) with excessive daytime sleepiness, muscle fatigue, snoring, frequent arousals, non-restorative sleep, and witnessed apneas. Pulmonary function tests revealed a mild decrease of forced vital capacity. Nocturnal polysomnography showed an increase of apnea/hypopnea index (85.9 events/h), mainly of central type (236), minimal oxygen saturation of 72%, and end-tidal carbon dioxide values that varied from 45 to 53 mmHg. Bi-level positive airway pressure titration was initiated at an inspiratory pressure (IPAP) of 8 and an expiratory pressure (EPAP) of 4 cm H2O. IPAP was then gradually increased to eliminate respiratory events and improve oxygen saturation. An IPAP of 12cm H20 and an EPAP of 4cm H2O eliminated all respiratory events, and the oxygen saturation remained above 90%. Bi-level positive airway pressure treatment at spontaneous/timed mode showed an improvement in snoring, apneas, and Epworth sleepiness scale decreased from 20 to 10. This case illustrates the beneficial effects of Bi-level positive airway pressure support in central sleep apnea syndrome of a patient with myotonic dystrophy type 1.
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We report an unusual case of a Duchenne Muscular Dystrophy(DMD) patient who initiated a restless leg syndrome after the use of amytriptiline. The prescription and use of this medication for patients with persistent neuropathic pain is relatively common, especially for patients with DMD. Normally, this medication is well tolerated, however, we now report the occurrence of an induction or intensification of a restless leg syndrome case in a young patient with DMD, treated with amytriptiline for his chronic pain.
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BACKGROUND AND OBJECTIVES: Malignant hyperthermia (MH) is a pharmacogenetic disease that causes abnormal hypermetabolic reaction to halogenated anesthetics and/or depolarizing muscle relaxants. In Brazil, there is a hotline telephone service for MH since 1991, available 24 hours a day in São Paulo. This article analyzes the activity of the Brazilian hotline service for MH in 2009. METHODS: Prospective analysis of all phone calls made to the Brazilian hotline service for MH from January to December 2009. RESULTS: Twenty-two phone calls were received: 21 from the South/Southeast region of Brazil and one from the North region. Fifteen calls were requests for general information about MH. Seven were about suspected MH acute episodes, two of which were not considered as MH. In five episodes compatible with MH, all patients received halogenated volatile anesthetics (2, isoflurane; 3, sevoflurane) and one also used succinylcholine; there were four men and one woman, with a mean age of 18 years (2-27). The problems described in the five MH episodes were tachycardia (5), increased expired carbon dioxide (4), hyperthermia (3), acidemia (1), rhabdomyolysis (1), and myoglobinuria (1). One patient received dantrolene. All five patients with MH episodes were follow-up in the intensive care unit and recovered without sequelae. Susceptibility to MH was later confirmed in two patients by in vitro muscle contracture test. CONCLUSIONS: The number of calls per year in the Brazilian hotline service for MH is still low. The characteristics of MH episode were similar to those reported in other countries. The knowledge of MH in Brazil needs to be increased.