Matches in SemOpenAlex for { <https://semopenalex.org/work/W1612248827> ?p ?o ?g. }
- W1612248827 endingPage "144" @default.
- W1612248827 startingPage "113" @default.
- W1612248827 abstract "This chapter discusses the clinical and genetical aspects of spinocerebellar ataxias with emphasis on polyglutamine expansions. Autosomal dominant cerebellar ataxias (ADCAs), alternatively called spinocerebellar ataxias (SCAs), are a highly heterogeneous group of neurodegenerative disorders characterized by cerebellar ataxia variably associated with other neurological signs. Seven of these disorders are often referred to as polyglutamine diseases caused by translated CAG repeat expansions. Clinically, these disorders are characterized by a wide range of phenotypes depending on the responsible locus, the size of the expansion, and disease duration. These disorders manifest above a threshold of CAG repeats that varies according to the gene. When large and not interrupted, the CAG repeats are unstable upon transmission, mostly resulting in expansions particularly during paternal transmissions. This observation and the strong negative correlation between the size of the expansion and the age at onset account for the phenomenon of anticipation often observed in families. The relative frequency of the responsible genes varies according to geographical origin, and polyglutamine diseases account for 40–80% of ADCAs. Genetic diagnosis, now possible in several of these disorders, does not yet permit specific treatment but allows accurate genetic counseling and offers the possibility of presymptomatic and prenatal testing." @default.
- W1612248827 created "2016-06-24" @default.
- W1612248827 creator A5027293126 @default.
- W1612248827 creator A5036706411 @default.
- W1612248827 creator A5088953732 @default.
- W1612248827 date "2007-01-01" @default.
- W1612248827 modified "2023-09-27" @default.
- W1612248827 title "Chapter 4 Clinical and Genetic Aspects of Spinocerebellar Ataxias with Emphasis on Polyglutamine Expansions" @default.
- W1612248827 cites W1250816784 @default.
- W1612248827 cites W1480896883 @default.
- W1612248827 cites W1484316196 @default.
- W1612248827 cites W1496748157 @default.
- W1612248827 cites W1507515137 @default.
- W1612248827 cites W1508218669 @default.
- W1612248827 cites W1513749224 @default.
- W1612248827 cites W1519690546 @default.
- W1612248827 cites W1523859303 @default.
- W1612248827 cites W1532930401 @default.
- W1612248827 cites W1576693029 @default.
- W1612248827 cites W1588226801 @default.
- W1612248827 cites W1711427337 @default.
- W1612248827 cites W1965142683 @default.
- W1612248827 cites W1965267794 @default.
- W1612248827 cites W1966816746 @default.
- W1612248827 cites W1967286323 @default.
- W1612248827 cites W1968984822 @default.
- W1612248827 cites W1970719131 @default.
- W1612248827 cites W1970744664 @default.
- W1612248827 cites W1971047357 @default.
- W1612248827 cites W1971825764 @default.
- W1612248827 cites W1972710911 @default.
- W1612248827 cites W1972818610 @default.
- W1612248827 cites W1975302496 @default.
- W1612248827 cites W1975364532 @default.
- W1612248827 cites W1975483166 @default.
- W1612248827 cites W1976131446 @default.
- W1612248827 cites W1976314401 @default.
- W1612248827 cites W1981457795 @default.
- W1612248827 cites W1985866397 @default.
- W1612248827 cites W1988032157 @default.
- W1612248827 cites W1988498459 @default.
- W1612248827 cites W1988550308 @default.
- W1612248827 cites W1988665933 @default.
- W1612248827 cites W1988723452 @default.
- W1612248827 cites W1989361190 @default.
- W1612248827 cites W1989619236 @default.
- W1612248827 cites W1992014748 @default.
- W1612248827 cites W1992148356 @default.
- W1612248827 cites W1993691393 @default.
- W1612248827 cites W1995390530 @default.
- W1612248827 cites W1995959273 @default.
- W1612248827 cites W1996326190 @default.
- W1612248827 cites W1996515148 @default.
- W1612248827 cites W1996663995 @default.
- W1612248827 cites W1997849167 @default.
- W1612248827 cites W1998579485 @default.
- W1612248827 cites W1999323145 @default.
- W1612248827 cites W2002319403 @default.
- W1612248827 cites W2004373304 @default.
- W1612248827 cites W2005093832 @default.
- W1612248827 cites W2007082931 @default.
- W1612248827 cites W2012481532 @default.
- W1612248827 cites W2013220061 @default.
- W1612248827 cites W2013452556 @default.
- W1612248827 cites W2015471776 @default.
- W1612248827 cites W2016516882 @default.
- W1612248827 cites W2017237069 @default.
- W1612248827 cites W2019864338 @default.
- W1612248827 cites W2020327379 @default.
- W1612248827 cites W2021260278 @default.
- W1612248827 cites W2021549542 @default.
- W1612248827 cites W2022954859 @default.
- W1612248827 cites W2023105110 @default.
- W1612248827 cites W2023852892 @default.
- W1612248827 cites W2023901302 @default.
- W1612248827 cites W2025295962 @default.
- W1612248827 cites W2025995536 @default.
- W1612248827 cites W2028348599 @default.
- W1612248827 cites W2030715798 @default.
- W1612248827 cites W2031348958 @default.
- W1612248827 cites W2031425761 @default.
- W1612248827 cites W2031913366 @default.
- W1612248827 cites W2033080896 @default.
- W1612248827 cites W2033545352 @default.
- W1612248827 cites W2035036347 @default.
- W1612248827 cites W2035531615 @default.
- W1612248827 cites W2037632462 @default.
- W1612248827 cites W2038539263 @default.
- W1612248827 cites W2038803187 @default.
- W1612248827 cites W2038895605 @default.
- W1612248827 cites W2041213023 @default.
- W1612248827 cites W2043888873 @default.
- W1612248827 cites W2044516928 @default.
- W1612248827 cites W2046667597 @default.
- W1612248827 cites W2047185907 @default.
- W1612248827 cites W2047288443 @default.
- W1612248827 cites W2048058057 @default.
- W1612248827 cites W2048555293 @default.