Chapter title |
Rare Neurodegenerative Diseases: Clinical and Genetic Update
|
---|---|
Chapter number | 25 |
Book title |
Rare Diseases Epidemiology: Update and Overview
|
Published in |
Advances in experimental medicine and biology, January 2017
|
DOI | 10.1007/978-3-319-67144-4_25 |
Pubmed ID | |
Book ISBNs |
978-3-31-967142-0, 978-3-31-967144-4
|
Authors |
Antoni Matilla-Dueñas, Marc Corral-Juan, Agustí Rodríguez-Palmero Seuma, Dolores Vilas, Lourdes Ispierto, Sara Morais, Jorge Sequeiros, Isabel Alonso, Víctor Volpini, Carmen Serrano-Munuera, Guillem Pintos-Morell, Ramiro Álvarez, Ivelisse Sánchez, Matilla-Dueñas, Antoni, Corral-Juan, Marc, Rodríguez-Palmero Seuma, Agustí, Vilas, Dolores, Ispierto, Lourdes, Morais, Sara, Sequeiros, Jorge, Alonso, Isabel, Volpini, Víctor, Serrano-Munuera, Carmen, Pintos-Morell, Guillem, Álvarez, Ramiro, Sánchez, Ivelisse |
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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Country | Count | As % |
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Spain | 2 | 50% |
United Kingdom | 1 | 25% |
Unknown | 1 | 25% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 4 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 180 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 26 | 14% |
Student > Master | 25 | 14% |
Researcher | 21 | 12% |
Student > Ph. D. Student | 21 | 12% |
Student > Doctoral Student | 12 | 7% |
Other | 34 | 19% |
Unknown | 41 | 23% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 39 | 22% |
Neuroscience | 26 | 14% |
Biochemistry, Genetics and Molecular Biology | 23 | 13% |
Agricultural and Biological Sciences | 6 | 3% |
Psychology | 6 | 3% |
Other | 30 | 17% |
Unknown | 50 | 28% |