Clinical symptomatology of Huntington disease

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F19%3A10395026" target="_blank" >RIV/00064165:_____/19:10395026 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10395026
Result on the web
<a href="https://doi.org/10.1007/978-981-13-0944-1_10" target="_blank" >https://doi.org/10.1007/978-981-13-0944-1_10</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/978-981-13-0944-1_10" target="_blank" >10.1007/978-981-13-0944-1_10</a>

Result language
angličtina
Original language name
Clinical symptomatology of Huntington disease
Original language description
Huntington's Disease (HN) is an autosomal dominant hereditary neuropsychiatric disease with a fatal course. The main clinical manifestations are motive symptoms (mainly choreatic dyskinesia and disturbances of free movement) and changes in the psyche (especially cognitive deterioration and behavioral disorders). The essence of the mutation is the expansion of a triplet containing cytosine-adenine-guanine (CAG) with a critical limit of 39 and more repeats on the short arm. 4. chromosome. The typical onset of HN is in the 4th decade, but there are relatively rare juvenile forms of HN and late-onset HN forms
Czech name
—
Czech description
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Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Book/collection name
Pathology, prevention and therapeutics of neurodegenerative disease
ISBN
978-981-13-0943-4
Number of pages of the result
15
Pages from-to
117-131
Number of pages of the book
301
Publisher name
Springer Nature
Place of publication
Singapore
UT code for WoS chapter
—

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