Title |
Clinical and genetic basis of familial amyotrophic lateral sclerosis
|
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Published in |
Arquivos de Neuro-Psiquiatria, October 2015
|
DOI | 10.1590/0004-282x20150161 |
Pubmed ID | |
Authors |
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Marco Antônio Troccoli Chieia, Acary Souza Bulle Oliveira |
Abstract |
Amyotrophic lateral sclerosis represents the most common neurodegenerative disease leading to upper and lower motor neuron compromise. Although the vast majority of cases are sporadic, substantial gain has been observed in the knowledge of the genetic forms of the disease, especially of familial forms. There is a direct correlation between the profile of the mutated genes in sporadic and familial forms, highlighting the main role ofC9orf72 gene in the clinical forms associated with frontotemporal dementia spectrum. The different genes related to familial and sporadic forms represent an important advance on the pathophysiology of the disease and genetic therapeutic perspectives, such as antisense therapy. The objective of this review is to signal and summarize clinical and genetic data related to familial forms of amyotrophic lateral sclerosis. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 61 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 11 | 18% |
Student > Ph. D. Student | 7 | 11% |
Other | 5 | 8% |
Student > Master | 5 | 8% |
Student > Doctoral Student | 4 | 7% |
Other | 9 | 15% |
Unknown | 20 | 33% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 9 | 15% |
Biochemistry, Genetics and Molecular Biology | 7 | 11% |
Neuroscience | 7 | 11% |
Agricultural and Biological Sciences | 6 | 10% |
Nursing and Health Professions | 3 | 5% |
Other | 7 | 11% |
Unknown | 22 | 36% |