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Rare Neurodegenerative Diseases: Clinical and Genetic Update

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Rare Diseases Epidemiology: Update and Overview

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1031))

Abstract

More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood, progressive clinical course, and neuronal loss with regional specificity in the central nervous system. They include Alzheimer’s disease and other less frequent dementias, brain cancer, degenerative nerve diseases, encephalitis, epilepsy, genetic brain disorders, head and brain malformations, hydrocephalus, stroke, Parkinson’s disease, multiple sclerosis, amyotrophic lateral sclerosis (ALS or Lou Gehrig’s Disease), Huntington’s disease, and Prion diseases, among others. Neurodegeneration usually affects, but is not limited to, the cerebral cortex, intracranial white matter, basal ganglia, thalamus, hypothalamus, brain stem, and cerebellum. Although the majority of neurodegenerative diseases are sporadic, Mendelian inheritance is well documented. Intriguingly, the clinical presentations and neuropathological findings in inherited neurodegenerative forms are often indistinguishable from those of sporadic cases, suggesting that converging genomic signatures and pathophysiologic mechanisms underlie both hereditary and sporadic neurodegenerative diseases. Unfortunately, effective therapies for these diseases are scarce to non-existent. In this chapter, we highlight the clinical and genetic features associated with the rare inherited forms of neurodegenerative diseases, including ataxias, multiple system atrophy, spastic paraplegias, Parkinson’s disease, dementias, motor neuron diseases, and rare metabolic disorders.

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Acknowledgements

The authors apologise for being unable to include all relevant references for the works reviewed here due to space constraints. Antoni Matilla-Dueñas is a Miguel Servet Investigator in Neurosciences of the Spanish National Health System (CPII 14/00029). His research is or has been funded by the Spanish Carlos III Health Institute (ISCIII; CP08/00027, CPII 14/00029, and PI14/00136), the Spanish Ministry of Science and Innovation (BFU2008-00527/BMC), the European Commission (EUROSCA project LHSMCT-2004-503304) and the Fundació de la Marató de TV3 (Televisió de Catalunya, 100730). Ivelisse Sánchez is or has been funded by the Boston University School of Medicine, Boston Massachussetts, EEUU and the National Institute of Aging (NIA P01AG000001S), EEUU. This work was supported by the CERCA Programme/Generalitat de Catalunya.

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Authors and Affiliations

  1. Functional and Translational Neurogenetics Unit, Department of Neurosciences, Health Sciences Research Institute Germans Trias-IGTP, Can Ruti Campus, Ctra de Can Ruti, Camí de les Escoles s/n, 08916, Badalona, Barcelona, Spain

    Antoni Matilla-Dueñas & Marc Corral-Juan

  2. Department of Pediatrics, University Hospital Germans Trias i Pujol (HUGTP) and Health Sciences Research Institute, Can Ruti Campus, Ctra. de Canyet s/n, 08916, Badalona, Barcelona, Spain

    Agustí Rodríguez-Palmero Seuma & Guillem Pintos-Morell

  3. Neurodegenerative Diseases Unit, Neurology Service and Neurosciences Department, University Hospital Germans Trias i Pujol (HUGTP), Ctra. de Canyet s/n, Can Ruti Campus, 08916, Badalona, Barcelona, Spain

    Dolores Vilas, Lourdes Ispierto & Ramiro Álvarez

  4. IBMC – Institute for Molecular and Cell Biology, i3S – Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal

    Sara Morais, Jorge Sequeiros & Isabel Alonso

  5. Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet, Barcelona, Spain

    Víctor Volpini

  6. Department of Internal Medicine, Hospital St. Joan de Déu, Martorell, Spain

    Carmen Serrano-Munuera

  7. Manresa University, Martorell, Barcelona, Spain

    Carmen Serrano-Munuera

  8. Functional Biology and Experimental Therapeutics Laboratory, Functional and Translational Neurogenetics Unit, Department of Neurosciences, Health Sciences Research Institute Germans Trias-IGTP, Can Ruti Campus, Ctra de Can Ruti, Camí de les Escoles s/n, 08916, Badalona, Barcelona, Spain

    Ivelisse Sánchez

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  1. Antoni Matilla-Dueñas
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  9. Víctor Volpini
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  10. Carmen Serrano-Munuera
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  11. Guillem Pintos-Morell
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  12. Ramiro Álvarez
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  13. Ivelisse Sánchez
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Corresponding authors

Correspondence to Antoni Matilla-Dueñas or Ivelisse Sánchez .

Editor information

Editors and Affiliations

  1. RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain

    Manuel Posada de la Paz

  2. Centro Nazionale Malattie Rare, Istituto Superiore di Sanita, Roma, Italy

    Domenica Taruscio

  3. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA

    Stephen C. Groft

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Matilla-Dueñas, A. et al. (2017). Rare Neurodegenerative Diseases: Clinical and Genetic Update. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology, vol 1031. Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_25

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