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    [Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal].
    Acta Med Port 2017 Jun 30;30(6):502-512. Epub 2017 Jun 30.
    Unidade de Neuropediatria. Serviço de Pediatria. Centro Hospitalar São João. Porto. Portugal; Serviço de Genética. Faculdade de Medicina. Universidade do Porto. Porto. Portugal.
    In recent decades, a long and increasing list of monogenic neurodegenerative ataxias has been identified, allowing for better characterization of the pathophysiology, phenotype and prognosis of this heterogeneous group of disorders, while also revealing potential new therapeutic targets. However, the heterogeneity and complexity of the genotype-phenotype relationships and the high costs of molecular genetics often make it difficult for clinicians to decide on a molecular investigation based on an unbiased rational plan. Clinical history is essential to guide the diagnostic workup, but often the phenotype does not hold enough specificity to allow for predicting the genotype. The Group of Neurogenetics of the Centro Hospitalar São João, a multidisciplinary team of neurologists and geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic aetiology of neurodegenerative ataxias in clinical practice, based on international consensus documents (currently containing potentially outdated information) and published scientific evidence on this topic. At the time these recommendations were written, there were around 10 well described autosomal recessive loci and more than 27 autosomal dominant loci for neurodegenerative ataxias. This document covers, in a pragmatic way, the rational process used for the genetic diagnosis of neurodegenerative ataxias, with specific recommendations for the various groups of these heterogeneous diseases, per the Portuguese reality.

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    [Investigation of Genetic Etiology in Neurodegenerative Dementias: Recommendations from the Centro Hospitalar São João Neurogenetics Group].
    Acta Med Port 2016 Oct 31;29(10):675-679. Epub 2016 Oct 31.
    Departamento de Neurociências Clínicas e Saúde Mental. Faculdade de Medicina. Universidade do Porto. Porto. Portugal; Serviço de Neurologia. Centro Hospitalar São João. Porto. Portugal.
    In the past few years several gene mutations have been identified as causative of the most frequent neurodegenerative dementias (Alzheimer disease and frontotemporal dementia). These advances, along with the complex phenotype-genotype relationships and the costs associated with genetic testing, have often made it difficult for clinicians to decide with regard to a rational plan for the investigation of the genetic etiology of the degenerative dementias. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of Alzheimer disease and frontotemporal dementia in clinical practice, based on international consensus documents (currently containing partly outdated information) and published scientific evidence on this topic. Read More
    [Genetic Study of Primary Dystonias: Recommendations from the Centro Hospitalar São João Neurogenetics Group].
    Acta Med Port 2017 Apr 28;30(4):340-346. Epub 2017 Apr 28.
    Departamento de Neurociências Clínicas e Saúde Mental. Faculdade de Medicina. Universidade do Porto. Porto. Portugal. Serviço de Neurologia. Centro Hospitalar São João. Porto. Portugal.; Serviço de Neurologia, Departamento de Neurociências Clínicas e Saúde Mental, Faculdade de Medicina da Universidade do Porto.
    The primary dystonias are a particular group of dystonias of presumed genetic origin, with a wide age of onset and variable progression. The diagnosis is, therefore, a challenge and the issue of the genetic investigation presents frequently in clinical practice. In the past few years several gene mutations have been identified as causative of primary dystonias. Read More
    [Genetic diagnosis, classification and clinical hereditary ataxia disease entities].
    Fortschr Neurol Psychiatr 1997 Feb;65(2):79-89
    Neurologische Klinik, Ruhr-Universität Bochum im St. Josef Hospital.
    Hereditary ataxias are a heterogeneous group of neurodegenerative diseases. Neither the clinical features nor the findings at autopsy provide a satisfactory basis for the isolation of distinct categories and classification. Recently, several gene loci responsible for inherited ataxias have been identified. Read More
    Systematic review of autosomal recessive ataxias and proposal for a classification.
    Cerebellum Ataxias 2017 23;4. Epub 2017 Feb 23.
    Faculty of Medicine, Université Laval, Quebec city, QC G1V 0A6 Canada.
    Background: The classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a comprehensive systematic review of the literature to examine all recessive ataxias in order to propose a new classification and properly circumscribe this field as new technologies are emerging for comprehensive targeted gene testing.

    Methods: We searched Pubmed and Embase to identify original articles on recessive forms of ataxia in humans for which a causative gene had been identified. Read More