dc.contributor.author | adel albaseer, Esra | |
dc.date.accessioned | 2020-09-30T07:33:08Z | |
dc.date.available | 2020-09-30T07:33:08Z | |
dc.date.issued | 2019-03-12 | |
dc.identifier.uri | http://repository.limu.edu.ly/handle/123456789/2070 | |
dc.description | Spinocerebellar ataxia (SCA) consists of a community of multisystem
neurodegenerative disorders, whose key feature is progressive ataxia. It is caused by
mutations in more than 25 genes of which 14.2–4 In seven subtypes, including the most
prevalent genotypes (SCA1, SCA2, SCA3, and SCA6), the expansion of a CAG
trinucleotide repeat in the coding region of the respective gene triggers the disease.
SCA is a phenotypically heterogeneous latent condition characterized by slowly
progressive gait ataxia and additional variable symptoms including visual problems,
dysarthria, dysphagia, limb ataxia, spasticity, parkinsonism, dystonia, peripheral
neuropathy, restless leg syndrome and urge incontinence. Because of its genetic
existence, it is likely that the pathogenic process begins early in life or even before
birth. Nevertheless, the precise origin of the disease still remains unclear. | en_US |
dc.description.abstract | It is hard to define the initiation of genetically determined
neurodegenerative diseases because of their gradual and slowly progressive nature.
This is particularly true for spinocerebellar ataxia (SCA) due to differing affection of
many parts of the nervous system and tremendous symptom variability. In 287
patients with SCA1, SCA2, SCA3 or SCA6, we investigated early symptoms and
calculated the influence of CAG repeat length on age of onset depending on (1) the
definition of onset of disease, (2) the definition of onset, and (3) the duration of the
symptoms. The primary symptom in two-thirds of patients was discomfort with gait.
In 4% of patients, respectively, ataxia accompanied double vision, dysarthria, poor
hand writing and episodic vertigo. Data on on onset of disease ranged for 1 year or
more in 44 percent of cases between patients and family | en_US |
dc.language.iso | en | en_US |
dc.publisher | faculty of Basic Medical Science - Libyan International Medical University | en_US |
dc.rights | Attribution 3.0 United States | * |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/us/ | * |
dc.title | Early diagnosis of spinocerebellar ataxia | en_US |
dc.type | Other | en_US |