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- W2783250086 abstract "The autosomal-recessive cerebellar ataxias comprise more than half of the known genetic forms of ataxia and represent an extensive group of clinically heterogeneous disorders that can occur at any age but whose onset is typically prior to adulthood. In addition to ataxia, patients often present with polyneuropathy and clinical symptoms outside the nervous system. The most common of these diseases is Friedreich ataxia, caused by mutation of the frataxin gene, but recent advances in genetic analysis have greatly broadened the ever-expanding number of causative genes to over 50. In this review, the clinical neurogenetics of the recessive cerebellar ataxias will be discussed, including updates on recently identified novel ataxia genes, advancements in unraveling disease-specific molecular pathogenesis leading to ataxia, potential treatments under development, technologic improvements in diagnostic testing such as clinical exome sequencing, and what the future holds for clinicians and geneticists." @default.
- W2783250086 created "2018-01-26" @default.
- W2783250086 creator A5066130759 @default.
- W2783250086 date "2018-01-01" @default.
- W2783250086 modified "2023-10-16" @default.
- W2783250086 title "Autosomal-recessive cerebellar ataxias" @default.
- W2783250086 cites W125749356 @default.
- W2783250086 cites W1480875188 @default.
- W2783250086 cites W1506732484 @default.
- W2783250086 cites W1515954794 @default.
- W2783250086 cites W1536477417 @default.
- W2783250086 cites W1567820317 @default.
- W2783250086 cites W1584476354 @default.
- W2783250086 cites W1655078421 @default.
- W2783250086 cites W1745187809 @default.
- W2783250086 cites W1853661044 @default.
- W2783250086 cites W1872142865 @default.
- W2783250086 cites W1884741867 @default.
- W2783250086 cites W1893679037 @default.
- W2783250086 cites W1899364599 @default.
- W2783250086 cites W1913861473 @default.
- W2783250086 cites W1965774784 @default.
- W2783250086 cites W1967433085 @default.
- W2783250086 cites W1969028326 @default.
- W2783250086 cites W1972740406 @default.
- W2783250086 cites W1972844230 @default.
- W2783250086 cites W1973054976 @default.
- W2783250086 cites W1973140362 @default.
- W2783250086 cites W1973747307 @default.
- W2783250086 cites W1974397700 @default.
- W2783250086 cites W1975933947 @default.
- W2783250086 cites W1977730852 @default.
- W2783250086 cites W1979689810 @default.
- W2783250086 cites W1979695008 @default.
- W2783250086 cites W1980461568 @default.
- W2783250086 cites W1980586387 @default.
- W2783250086 cites W1986837147 @default.
- W2783250086 cites W1987824870 @default.
- W2783250086 cites W1989016669 @default.
- W2783250086 cites W1991430538 @default.
- W2783250086 cites W1995962173 @default.
- W2783250086 cites W1996161359 @default.
- W2783250086 cites W1996367891 @default.
- W2783250086 cites W1997541631 @default.
- W2783250086 cites W2002943544 @default.
- W2783250086 cites W2003269501 @default.
- W2783250086 cites W2003705084 @default.
- W2783250086 cites W2005459546 @default.
- W2783250086 cites W2006430824 @default.
- W2783250086 cites W2009079876 @default.
- W2783250086 cites W2012480738 @default.
- W2783250086 cites W2013537132 @default.
- W2783250086 cites W2013586223 @default.
- W2783250086 cites W2015465210 @default.
- W2783250086 cites W2015762546 @default.
- W2783250086 cites W2018142234 @default.
- W2783250086 cites W2023971182 @default.
- W2783250086 cites W2025534554 @default.
- W2783250086 cites W2026597207 @default.
- W2783250086 cites W2032074640 @default.
- W2783250086 cites W2032350648 @default.
- W2783250086 cites W2032938045 @default.
- W2783250086 cites W2037240271 @default.
- W2783250086 cites W2040855509 @default.
- W2783250086 cites W2041206763 @default.
- W2783250086 cites W2042144338 @default.
- W2783250086 cites W2042357459 @default.
- W2783250086 cites W2043118962 @default.
- W2783250086 cites W2044304208 @default.
- W2783250086 cites W2044375974 @default.
- W2783250086 cites W2044883192 @default.
- W2783250086 cites W2045000684 @default.
- W2783250086 cites W2045541414 @default.
- W2783250086 cites W2045617609 @default.
- W2783250086 cites W2046694808 @default.
- W2783250086 cites W2047991365 @default.
- W2783250086 cites W2048569436 @default.
- W2783250086 cites W2048949892 @default.
- W2783250086 cites W2050095175 @default.
- W2783250086 cites W2050510668 @default.
- W2783250086 cites W2051255378 @default.
- W2783250086 cites W2052391844 @default.
- W2783250086 cites W2052445399 @default.
- W2783250086 cites W2052453595 @default.
- W2783250086 cites W2053761006 @default.
- W2783250086 cites W2055949229 @default.
- W2783250086 cites W2057509417 @default.
- W2783250086 cites W2057948555 @default.
- W2783250086 cites W2059054872 @default.
- W2783250086 cites W2059196221 @default.
- W2783250086 cites W2059639468 @default.
- W2783250086 cites W2064028461 @default.
- W2783250086 cites W2064110485 @default.
- W2783250086 cites W2065355192 @default.
- W2783250086 cites W2065613207 @default.
- W2783250086 cites W2065822809 @default.
- W2783250086 cites W2068004241 @default.
- W2783250086 cites W2071905091 @default.