TY  - CHAP
M1  - Book, Section
TI  - The Hereditary Spastic Paraplegias
A1  - Fink, John K.
A2  - Murray, Michael F.
A2  - Babyatsky, Mark W.
A2  - Giovanni, Monica A.
A2  - Alkuraya, Fowzan S.
A2  - Stewart, Douglas R.
Y1  - 2014
N1  - 
T2  - Clinical Genomics: Practical Applications in Adult Patient Care
AB  - Disease  summary:The  hereditary  spastic  paraplegias  (HSPs)  are  genetically  heterogeneous  disorders  in  which  progressive  difficulty  walking  due  to  spastic  weakness  of  both  legs  is  the  predominant  neurologic  syndrome.HSP  clinical  syndromes  may  be  limited  to  difficulty  walking  due  to  lower  extremity  spastic  weakness  (“uncomplicated  HSP”)  or  may  include  other  neurologic  or  systemic  disturbances  (“complicated  HSP”).There  may  be  wide  variability  in  age-of-symptom  onset,  rate  of  worsening,  degree  of  disability,  and  presence  (and  severity)  of  additional  of  neurologic  involvement  both  within  and  between  different  genetic  types  of  HSP.Neuropathologic  analyses  of  uncomplicated  HSP  generally  reveals  degeneration  of  corticospinal  tract  axons  that  is  maximal  in  the  thoracic  spinal  cord;  degeneration  of  fasciculus  gracilis  fibers  that  is  maximal  in  the  cervicomedullary  region;  and  a  degree  of  demyelination  that  is  considered  to  be  secondary  to  axon  degeneration.Proteins  encoded  by  HSP  genes  have  diverse  functions  including  mitochondrial  function,  axon  transport,  microtubule  processing,  protein  folding  and  chaperone,  endoplasmic  reticulum  morphology,  and  myelin  structure.Hereditary  basis:More  than  50  genetic  types  of  HSP  have  been  described  (Table  134-1).  Autosomal  dominant,  autosomal  recessive,  X-linked  forms  of  HSP  are  each  genetically  heterogeneous.  In  addition,  HSP  due  to  ATP6  gene  mitochondrial  gene  mutation  (and  therefore,  with  maternally  inherited  HSP)  has  been  recently  described.Differential  diagnosis:Many  different  conditions  have  overlapping  signs  and  symptoms.  The  differential  diagnosis  should  include  structural  abnormalities  of  the  brain  and  spinal  cord,  leukodystrophies,  inflammatory  disorders,  metabolic  disturbances,  and  infection.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1102705462
ER  -