RT Book, Section
A1 Amato, Anthony A.
A1 Russell, James A.
SR Print(0)
ID 1115657162
T1 Hereditary Spastic Paraparesis
T2 Neuromuscular Disorders, 2e
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 9780071752503
LK neurology.mhmedical.com/content.aspx?aid=1115657162
RD 2024/04/24
AB The  diagnosis  of  hereditary  spastic  paraparesis  (HSP)  is  based  on  the  identification  of  a  phenotype  characterized  as  a  slowly  progressive,  symmetric,  spastic  paraparesis  in  which  the  morbidity  is  largely  related  to  impaired  leg  control  rather  than  weakness,  with  or  without  recognition  of  other  family  members.  The  prevalence  of  dominantly  inherited  HSP,  at  least  in  Ireland,  is  estimated  at  1.27/105.1  Like  many  of  the  disorders  discussed  in  this  text,  the  nosology  of  HSP  is  confounded  by  insights  generated  by  molecular  biology.  The  HSP  phenotype  is  now  recognized  to  result  from  mutations  involving  at  least  50  different  genetic  loci  and  18  identified  genes  (Table  7-1).2  Despite  the  potential  precision  that  a  classification  system  based  solely  on  gene  location  and  gene  product  would  provide,  it  remains  an  impractical  bedside  tool.  Due  to  current  limitations  of  genetic  testing,  a  pragmatic  classification  system  requires  at  least  some  consideration  of  clinical  features.  This  chapter  will  attempt  to  provide  a  classification  hybrid  that  addresses  both  clinical  and  genetic  considerations  (Table  7-1).