RT Book, Section
A1 Bressman, Susan B.
A2 Watts, Ray L.
A2 Standaert, David G.
A2 Obeso, Jose A.
SR Print(0)
ID 55798864
T1 Chapter 28. Genetic Forms of Dystonia
T2 Movement Disorders, 3e
YR 2012
FD 2012
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-161312-5
LK neurology.mhmedical.com/content.aspx?aid=55798864
RD 2024/04/20
AB Genetic  causes  have  long  been  suspected  in  many  subtypes  of  dystonia.  The  earliest  descriptions  of  early-onset  primary  dystonia  in  the  first  decades  of  the  20th  century  contained  important  clues  to  its  genetic  etiology.  In  recent  decades,  advances  in  molecular  biology  have  led  to  the  identification  of  an  increasing  number  of  genes  for  both  primary  and  secondary  dystonia  subtypes.  The  identification  of  dystonia  genes  has,  in  turn,  led  to  a  clearer  understanding  of  dystonia  and  to  important  changes  in  both  clinical  and  basic  science  approaches  to  dystonia.  With  the  advent  of  gene  discovery,  further  investigations  into  the  basic  pathogenic  mechanisms  of  dystonia  using  cellular  and  animal  models  have  become  possible,  our  understanding  of  the  phenotypic  spectrum  of  gene  expression  has  been  broadened,  and  the  way  that  neurologists  diagnose  and  counsel  patients  with  dystonia  has  been  altered.  Ultimately,  a  more  complete  understanding  of  the  genetic  causes  of  dystonia  and  their  mechanisms  holds  the  promise  of  rational,  targeted  therapies.