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https://www.um.edu.mt/library/oar/handle/123456789/119850
Title: | Spinocerebellar Ataxia Type 2 and its association with Amyotrophic Lateral Sclerosis |
Authors: | Bartolo, Katya |
Keywords: | Amyotrophic lateral sclerosis Nervous system -- Degeneration Motor neurons -- Diseases Trinucleotide repeats |
Issue Date: | 2021 |
Publisher: | MMSA |
Citation: | Bartolo, K. (2021). Spinocerebellar Ataxia Type 2 and its association with Amyotrophic Lateral Sclerosis. Minima Medica, 2021, 22-28. |
Abstract: | All the neurodegenerative diseases seem to have a few common patterns. Recent studies have discovered similarities between Amyotrophic Lateral Sclerosis (ALS) and a sub-type of the Spinocerebellar Ataxia (SCA) diseases. SCA is characterised by different sub-types; the sub-type Spinocerebellar Ataxia Type 2 (SCA2) is particularly related to ALS. Similarities in both diseases with other types of neurodegenerative diseases make it difficult to diagnose at onset and hence symptomatic treatment, not cure, is usually started later on in the progression of the disease. In this article, a brief description of both diseases and an overview of the genetics of the individual diseases are outlined. In particular, reference is made to studies which have shown that the pathological number of CAG trinucleotide repeat-expansions in the ATXN2 gene are causative of SCA2 or even ALS. |
URI: | https://www.um.edu.mt/library/oar/handle/123456789/119850 |
Appears in Collections: | Minima Medica 2021 |
Files in This Item:
File | Description | Size | Format | |
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MiMe2021A3.pdf | 1.12 MB | Adobe PDF | View/Open |
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