dc.contributor.author | Mohammed Elabbar, Mariam | |
dc.date.accessioned | 2020-09-28T10:32:20Z | |
dc.date.available | 2020-09-28T10:32:20Z | |
dc.date.issued | 2019-03-12 | |
dc.identifier.uri | http://repository.limu.edu.ly/handle/123456789/2032 | |
dc.description | A disease previously described as genetically programmed cell death in human CNS
is known now days as Huntington’s disease (HD) previously as (Huntington chorea) ,
whoever to understand the progression of symptoms, the pathogenesis of HD must be
clarified .
(3)
,Therefore HD is an inherited neurodegenerative disorder, as a result from
an abnormal polyglutamine (CAG) repeat expansion inside the coding region of the
Huntington protein (IT15) this gene on chromosome 4 (4p63) encodes the protein
Huntington (5)
, This mutation leads to protein aggregation and neurotoxicity. despite
its widespread expression in the brain and body, mutated Huntington causes selective
degeneration of striatal projection neurons (1)
. The major pathological features of HD
are a primary loss of cells in the caudate nucleus and putamen (striatum) but other
regions of the basal ganglia, hypothalamus, and brain stem are also involved. | en_US |
dc.description.abstract | Background : disease previously described as genetically programmed cell death in
human CNS is known now days as Huntington’s disease (HD) previously as
(Huntington chorea) ,basically this report explains the progression of symptoms in the
early and middle stages of Huntington disease , Material and methods : in this paper
the progression is clarified through a survey of question answered by first degree
relatives to the participants , the survey mentioned below holds 19 symptoms of
(HD), the goal of this report is to describe or portray the progression of symptoms in
the early and middle stages of Huntington disease (HD), Result : the symptoms were
classified into 6 groups which are (initial , early ,early-middle, middle , middle-late
and late) varying in the time of onset from 1 year to 2-5 years then 6-10 and finally up
to 10 years , Discussion : patients who suffered of HD for more than 10 years
adequately lower the sample size; therefore, the answers for the category of after more
than 10 years were excluded in the analysis, . after the analysis of the answers of the
affected questioner (AQ) the larger slope estimates indicate an early onset, while the
symptoms with smaller slope indicate symptoms that happen later in disease
progression. Conclusion: in conclusion the early and middle symptoms of Huntington
are unclear unlike the middle-late and late stages , also describing the initial
symptoms helps better the development of the therapeutic agents . | 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 | Progression of symptoms in Huntington Disease (HD) | en_US |
dc.type | Other | en_US |