RT Book, Section
A1 Rosenberg, Roger N.
A2 Hauser, Stephen L.
A2 Josephson, S. Andrew
SR Print(0)
ID 1145769756
T1 CLASSIFICATION OF THE SPINOCEREBELLAR ATAXIAS
T2 Harrison's Neurology in Clinical Medicine, 4e
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9781259835865
LK neurology.mhmedical.com/content.aspx?aid=1145769756
RD 2024/04/20
AB Ataxias  with  autosomal  dominant,  autosomal  recessive,  X-linked,  or  mitochondrial  forms  of  inheritance  are  present  on  a  worldwide  basis.  Machado-Joseph  disease  (SCA3)  (autosomal  dominant)  and  Friedreich’s  ataxia  (autosomal  recessive)  are  the  most  common  types  in  most  populations.  Mutation  markers  are  now  commercially  available  to  identify  carriers  at  risk  in  their  families,  which  allows  for  precise  identification  of  the  genetic  mutation  for  correct  diagnosis  and  also  for  family  planning.  Identification  of  positive  mutation  carriers  with  family  planning  has  allowed  for  early  detection  of  asymptomatic  preclinical  disease  to  reduce  or  eliminate  the  inherited  form  of  ataxia  in  specific  families  on  a  global,  worldwide  basis.