Características clínicas de la atrofia multisistémica: un análisis de 17 casos / Clinical features of multiple system atrophy: an analysis of 17 cases

Introducción: La Atrofia Multisistémica (AMS) es una enfermedad neurodegenerativa caracterizada por parkinsonismo(AMS-P), disfunción cerebelosa (AMS-C) e insuficiencia autonómica en varias combinaciones. El objetivo de este estudio fue describir las características clínicas de esta enfermedad en un centro de neurológico de referencia. Población y métodos: Estudio descriptivo, longitudinal y retrospectivo de pacientes con AMS atendidos desde 1998 al 2008, según la base de datos del Departamento de Enfermedades Neurodegenerativas del Instituto Nacional de Ciencias Neurológicas. Resultados: Diecisiete pacientes cumplieron los criterios diagnósticos. La edad promedio de inicio de enfermedad fue 58.5 años. Encontramos un predominio del sexo masculino (M:F = 2.4:1) y del subtipo AMS-P (76.4%). Los hallazgos iniciales más frecuentes fueron los signos parkinsonianos o cerebelosos. Los estudios de neuroimagen se realizaron en 12 pacientes, de los cuales 10 mostraron alteraciones. La mayoría de los pacientes presentaron síntomas autonómicos (58.8%), pero solo un paciente fue sometido a un test de función autonómica, encontrándose ortostatismo. En 3 pacientes se realizaron EMG de esfínter anal, mostraron denervación del núcleo de Onuf. Conclusiones: Se encontró un predominio del sexo masculino y de la forma AMS-P que concuerdan con la literatura. Nuestra investigación se basó estrictamente en los últimos criterios establecidos; sin embargo, puede no haberse incluido algunos pacientes con síntomas iniciales y sin diagnóstico preciso; en ningún caso se tuvo confirmación neuropatológica. A pesar de estas limitaciones, es la primera vez que se describen las características clínicas de pacientes con AMS en un centro neurológico de referencia en Perú.

Introduction: Multiple System Atrophy (MSA) is a neurodegenerative disease characterized by a combination of parkinsonism (MSA -P), cerebellar dysfunction (MSA-C), and autonomic failure. Our study aimed to describe the clinical features of multiple system atrophy (MSA) in a neurological referral setting. Population and methods: A descriptive, longitudinal and retrospective study was designed, which included every patient diagnosed as AMS since 1998 at 2008 from Neurodegenerative Disease Department database of the Instituto Nacional de Ciencias Neurológicas. Results: Seventeen patients fulfilled the diagnostic criteria. The mean age at onset of the disease was 58.5 years. We found a predominance of males (M:F = 2.4: 1) as well as AMS-P cases (76.4%). The most common initial presenting features were parkinsonism or cerebe11ar signs. Neuroimaging was done in 12patients, 10of which were abnormal. Most of patients documented autonomic symptoms (58.8%); however, autonomic function testing was performed only in one patient in whom orthostatism was recorded. Anal sphincter electromyogram was done in 3 patients, all of them indicated denervation of Onuf' æs nucleus in the sacral cord. Conclusions: A predominance of male as well as MSA-P was found, these fíndings coincide with literature data. As our study strictly adhered to the last consensus criteria. However, missed cases can occur as a result of the early cases misdiagnosed as other types of parkinsonism; also, not all our patients had MRI of the brain performed and no neuropathological confirmation was available. Despite these limitations, this is the first review of the clinical characteristics of MSA patients in a neurological referral setting in Peru.

Multiple system atrophy: clinical-radiological correlation. Report of two cases

Multiple system atrophy (MSA) is a sporadic, neurodegenerative disorder, clinically characterized by parkinsonian, autonomic, cerebellar and pyramidal signs. We describe two patients showing different presentations of the same disease. The patient on case 1 presents features of MSA-C or olivopontocerebellar atrophy with the pontine "cross sign" on brain MRI. The second case reports a patient presenting MSA-P or striatonigral degeneration and the brain MRI shows lenticular nucleus sign alteration. We think that brain MRI might increase the accuracy diagnostic of MSA.

A atrofia de múltiplos sistemas (AMS) é uma doença neurodegenerativa esporádica caracterizada clinicamente por diferentes combinações de sinais parkinsonianos, autonômicos, cerebelares e piramidais. Descrevemos dois pacientes apresentando diferentes formas clínicas da mesma afecção. O caso 1 tem características da AMS-C ou atrofia olivopontocerebelar, apresentando na ressonância magnética (RM) o "sinal da cruz" na ponte. Já o caso 2 tem AMS-P ou degeneração nigro-estriatal, a RM mostra alteração do sinal no núcleo lentiforme entre outras alterações. Acreditamos que a RM cerebral possa contribuir para o melhor diagnóstico da AMS.

Dejerine-Sottas disease: a case report

CONTEXT: Hereditary peripheral neuropathies (hereditary motor-sensory neuropathies or hereditary demyelinating neuropathies) are abnormalities of Schwann cells and their myelin sheaths, with peripheral nerve dysfunction. They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy. OBJECTIVE: The objective of the present work was to describe a case of Dejerine-Sottas disease. CASE REPORT: A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia. Electromyography disclosed significant reduction in motor and sensory nerve conduction velocities. Sural nerve biopsy showed axons surrounded by a thin myelin sheath and concentrically arranged cytoplasmic processes of Schwann cells forming onion-bulbs. No axon damage was observed

Avances en la comprensión de las ataxias hereditarias / Advances in the comprehension of hereditary ataxias

Las ataxias hereditarias han constituido siempre un rompecabezas para el neurólogo. Las clasificaciones clínicas y anátomo-patológicas habiéndose mostrado impotentes para aprehenderlas a cabalidad. El desarrollo de la genética inversa y la biología molecular ha permitido por primera vez abordar su estudio de manera satisfactoria. Las ataxias cerebelosas autosómicas dominantes, como la atrofia olivo-ponto-cerebelosa (OPCA), la atrofia cerebelosa cortical familiar, la enfermedad de Machado Joseph, han recibido los apelativos ataxias espino cerebelosas (SCA) 1,2,3,4,5,6,7. La biología y la genética moleculares han demostrado que en una mayoría de ellas la alteración genética consiste en la expansión de un triplete CAG. La enfermedad de Friedreich que es la ataxia recesiva por excelencia ha mostrado por primera vez que puede presentarse bajo fenotipos diferentes. Su mutación ha sido mapeada al cromosoma 9 y se ha demostrado que la anormalidad consiste en la expansión intrónica de un triplete.

Atrofia olivopontocerebelar: relato de dois casos com ênfase à análise anatomopatológica / Olivo-ponto-cerebellar atrophy: report of 2 cases with emphasis pathological observations

Atrofia olivopontocerebelar (AOPC), uma das representantes das atrofias de múltiplos sistemas, é uma doença neurológica degenerativa crônica pouco comum que afeta o cerebelo, tractos espinocerebelares, olivas e outras estruturas do tronco do éncefalo. Pode manifestar-se clinicamente de diversas maneiras, onde a mais proeminente apresenta sintomas pancerebelares como disartria, nistagmo, ataxia e hipotonia. Rigidez generalizada e parkisonismo também podem ser encontrados em alguns casos. Os autores relatam dois casos clínicos de AOPC em mulheres de 59 e 63 anos, diagnosticados no Hospital de Clínicas da Universidade Federal do Paraná e confirmados por necropsia

Atrofia olivo-ponto-cerebelosa a propósito de un caso / Cerebelosa attophy olive tree ponto with regard to a case

Expone que el término atrofia olivopontocerebelosa fue introducido por primera vez por Dejerine y Thomas en 1990 con el propósito de identificar a un grupo de síndromes heterogeneos cuyo factor común era la pérdida de neuronas en la porción ventral de la protuberancia, los núcleos olivares inferiores y la corteza cerebelosa. Se trata de una mujer de 46 años de edad con marcha titubeante, atáxica, lenguaje disártico, tembloroso de evolución lenta y progresiva en aproximadamente 9 años e incoordinación de extremidades superiores en los últimos meses. El estudio de resonancia magnética nuclear mostró la atrofia olivo-ponto-cerebelosa...

Monoamine metabolites in normal human cerebrospinal fluid and in degenerative diseases of the central nervous system

Measurement of monoamine metabolites in cerebrospinal fluid (CSF) has been one of the few methods available to study monoamine transmitter function in the human central nervous system (CNS). It has steadily proved to be of much use in clinical research of neurological and psychiatric diseases, in which altered functions of central monoamine neurotransmitters have been identified. In this work 3-methoxy-4-hydroxyphenylethylglycol (MHPG), 3-4-dihydroxyphenylacetic acid (DOPAC), homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) were quantified in normal CSF and in patients with untreated Parkinson's disease (PD) and olovopontocerebellar atrophy (OPCA). Normal CSF was ovtained from 162 patients at the time of spinal anesthesia for surgery. Reference values for monoamine metabolites were established for normal adult lumbar CSF. Up to the age of 70 years no relation of monoamine metabolite concentration with age or sex were encountered. In individuals above 70 years of age higher levels of MHPG, HVA, and 5-HIAA weew present in women, while in men only higher levels of MHPG could be detected. A strong correlation between 5-HIAA and HVA concentrations were observed in all groups. PD patients exhibited normal CSF metabolite levels, but and altered 5-HIAA/HVA, favoring 5-HIAA. Dominant and recessive OPCA differed essentially in HVA concentration-diminished in the first group and elevated in the last. Comparing the results obtained in PD and dominant OPCA, we suggest that the decrease of CSF HVA in the latter group might not reflect nigrostriatal degeneration as we previously thought. Possibly another factor influencing dopamine function in the CNS is involved

Atrofias olivopontocerebelosas: análisis clínico de 11 casos / Olivopontocerebellar atrophies: clinical analysis of 11 cases

Se presentan 11 pacientes portadores de una atrofia olivo ponto cerebelosa, describiéndose en detalle la sintomatología neurológica y su evolución. Las diversas formas sindromáticas se analizan en relación a los hallazgos de la Tomografía Axial Computada de cerebro, apreciándose que todos nuestros casos tienen evidencia tomográfica de atrofia del vermis cerebeloso, hemisferios cerebelosos y protuberancia, independientemente de la forma sindromática que presentan. Finalmente se comenta la relación de este cuadro con el Síndrome de Shy-Drager y la degeneración striato-nigral.