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Authors
Abstract(s)
Introdução: A Paraparésia Espástica Hereditária, também conhecida por Síndrome de Strümpell-Lorrain, pertence ao grupo de doenças neurodegenerativas raras, genética e clinicamente heterogéneas, que se caracteriza por uma síndrome piramidal progressiva dos membros inferiores. O diagnóstico é essencialmente clínico e de exclusão.
Objetivos: Apresentação de um estudo de caso de uma doente com paraparésia espástica de instalação progressiva, cujos exames de neuroimagem e estudos genéticos realizados em 2015 não mostravam alterações, tendo-se aumentado o estudo recorrendo a um painel alargado de genes de interesse e uso da estimulação magnética transcraniana. Os principais objetivos são o estudo das bases teóricas, esclarecimento etiológico, orientações terapêuticas individualizadas e aconselhamento genético para este caso concreto.
Resultados: A estimulação magnética transcraniana foi realizada em dois momentos separados, com o objetivo de estudar a via piramidal e a progressão da doença. Os possíveis efeitos terapêuticos não foram estudados. Após a sua análise, verificou-se na segunda avaliação um aumento de 2,5 milissegundos no tempo de condução motor central para o membro superior esquerdo, sendo que este resultado já se encontrava fora dos valores de normalidade. Ambos os estudos mostraram ausência de resposta do membro inferior esquerdo após estimulação cortical. O estudo genético identificou duas variantes em heterozigotia nos genes IFIH1 e LYST.
Conclusões: Os avanços notáveis na ciência, e em particular na genética, auspicia uma nova era em que diagnósticos clínicos podem ser confirmados, embora não se conheçam ainda todos os genes que causam Paraparésia Espástica Hereditária. Por isso, a ausência de variante patogénica identificável, não exclui por si só o diagnóstico, que continua essencialmente clínico. A estimulação magnética transcraniana representa um método promissor no diagnóstico e controlo da evolução das doenças neurodegenerativas. Os resultados obtidos revelaram compromisso da condução do sistema nervoso central, suportando um possível diagnóstico.
Background: Hereditary Spastic Paraparesis, also known as Strümpell-Lorrain Syndrome, belongs to the group of rare neurodegenerative diseases, genetically and clinically heterogeneous, characterised by the progressive pyramidal syndrome. The diagnosis is essentially clinical and of exclusion. Objectives: We present a case study of a patient with progressive spastic paraparesis, whose neuroimaging tests and genetic studies carried out in 2015 showed no alterations. The investigation was expanded by using a broad panel of interest genes and the use of transcranial magnetic stimulation. The final objectives are to study the theoretical fundamentals, aetiological clarification, individualised therapeutic guidelines and genetic counselling of this disease. Results: The transcranial magnetic stimulation was performed at two separate moments, with the aim of assessing pyramidal pathway and disease progression. Possible therapeutic effects have not been studied. Analysing the studies, it was found an increase of about 2.5 milliseconds in central motor conduction time for the left upper limb, with the second evaluation outside normative values. Both studies showed absent responses in the left lower limb after cortical stimulation. Two variants in heterozygosity were identified in IFIH1 and LYST genes. Conclusions: The remarkable advances in science, and particularly in genetics, are prompting of a new era in which clinical diagnoses can be confirmed, although some genes that cause Hereditary Spastic Paraparesis still remain unknown. Therefore, the absence of an identifiable pathogenic variant does not, on its own, rule out the diagnosis, that remains essentially clinic. The transcranial magnetic stimulation stands as a promising method in the diagnosis and control of the progress of neurodegenerative diseases. The results revealed a compromise of the central nervous system conduction, supporting a possible diagnosis.
Background: Hereditary Spastic Paraparesis, also known as Strümpell-Lorrain Syndrome, belongs to the group of rare neurodegenerative diseases, genetically and clinically heterogeneous, characterised by the progressive pyramidal syndrome. The diagnosis is essentially clinical and of exclusion. Objectives: We present a case study of a patient with progressive spastic paraparesis, whose neuroimaging tests and genetic studies carried out in 2015 showed no alterations. The investigation was expanded by using a broad panel of interest genes and the use of transcranial magnetic stimulation. The final objectives are to study the theoretical fundamentals, aetiological clarification, individualised therapeutic guidelines and genetic counselling of this disease. Results: The transcranial magnetic stimulation was performed at two separate moments, with the aim of assessing pyramidal pathway and disease progression. Possible therapeutic effects have not been studied. Analysing the studies, it was found an increase of about 2.5 milliseconds in central motor conduction time for the left upper limb, with the second evaluation outside normative values. Both studies showed absent responses in the left lower limb after cortical stimulation. Two variants in heterozygosity were identified in IFIH1 and LYST genes. Conclusions: The remarkable advances in science, and particularly in genetics, are prompting of a new era in which clinical diagnoses can be confirmed, although some genes that cause Hereditary Spastic Paraparesis still remain unknown. Therefore, the absence of an identifiable pathogenic variant does not, on its own, rule out the diagnosis, that remains essentially clinic. The transcranial magnetic stimulation stands as a promising method in the diagnosis and control of the progress of neurodegenerative diseases. The results revealed a compromise of the central nervous system conduction, supporting a possible diagnosis.
Description
Keywords
Alterações da Marchaneuromodulação Espasticidade Genética Paraparésia