PMID- 34244902
OWN - NLM
STAT- MEDLINE
DCOM- 20220517
LR  - 20220517
IS  - 1473-4230 (Electronic)
IS  - 1473-4222 (Linking)
VI  - 21
IP  - 3
DP  - 2022 Jun
TI  - Progression of Functional Gait in Hereditary Spastic Paraplegias.
PG  - 350-357
LID - 10.1007/s12311-021-01302-2 [doi]
AB  - Hereditary spastic paraplegias (HSP) are characterized by progressive 
      deterioration of axonal projections of upper motor neurons leading to abnormal 
      locomotion. The clinical course of HSP as well as the definition of the best 
      instruments to assess its progression is largely unknown. The aim of this study 
      was to investigate the progression of functional gait in individuals with HSP and 
      to define sensitivity to change, minimal clinically important difference (MCID), 
      and validity of timed functional tests of gait (TFT). The study was constituted 
      of two phases: a cross-sectional study and a prospective cohort of 18 months. 
      Twenty-five patients (17 being SPG4), and twenty-five age- and sex-matched 
      control individuals performed TFT. Spastic paraplegia rating scale (SPRS), 
      ten-meter walking test (10MWT), timed up and go test (TUG), both at self-selected 
      and maximal walking speeds, and six-minute walking test (6MWT) were performed on 
      baseline in both groups and after 18 months of follow-up only in the HSP cohort. 
      In the cross-sectional analysis, all TFTs performances were greatly impaired in 
      HSP patients compared to controls. After 18 months of follow-up, TFTs did not 
      differ significantly from baseline in the statistical analysis, with some tests 
      showing more frequent improvement than worsening. We have provided effect size 
      measures and MCID for the evaluated instruments. HSPs clearly compromised TFTs 
      performances, which were valid instruments for assessing disease severity. 
      However, TFTs and SPRS did not capture the very slow motor evolution of HSPs, 
      reinforcing the necessity of additional biomarkers of disease progression.
CI  - (c) 2021. The Author(s), under exclusive licence to Springer Science+Business 
      Media, LLC, part of Springer Nature.
FAU - Cubillos-Arcila, Diana Maria
AU  - Cubillos-Arcila DM
AUID- ORCID: 0000-0001-9777-152X
AD  - Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio 
      Grande do Sul, Porto Alegre, Brazil.
AD  - Exercise Research Laboratory, Universidade Federal do Rio Grande do Sul, Porto 
      Alegre, Brazil.
FAU - Machado, Gustavo Dariva
AU  - Machado GD
AUID- ORCID: 0000-0003-3388-3666
AD  - Medical Genetics division, Hospital de Clinicas de Porto Alegre, Porto Alegre, 
      Brazil.
FAU - Sehnem, Lauren
AU  - Sehnem L
AUID- ORCID: 0000-0002-5145-3240
AD  - Medical Genetics division, Hospital de Clinicas de Porto Alegre, Porto Alegre, 
      Brazil.
FAU - Burguez, Daniela
AU  - Burguez D
AUID- ORCID: 0000-0001-9120-6562
AD  - Medical Genetics division, Hospital de Clinicas de Porto Alegre, Porto Alegre, 
      Brazil.
FAU - Zanardi, Ana Paula Janner
AU  - Zanardi APJ
AUID- ORCID: 0000-0003-1956-4263
AD  - Graduate Program in Human Movement Sciences, Universidade Federal do Rio Grande 
      do Sul, Porto Alegre, Brazil.
FAU - Martins, Valeria Feijo
AU  - Martins VF
AUID- ORCID: 0000-0001-5079-947X
AD  - Graduate Program in Human Movement Sciences, Universidade Federal do Rio Grande 
      do Sul, Porto Alegre, Brazil.
FAU - Peyre-Tartaruga, Leonardo Alexandre
AU  - Peyre-Tartaruga LA
AUID- ORCID: 0000-0003-1742-5016
AD  - Exercise Research Laboratory, Universidade Federal do Rio Grande do Sul, Porto 
      Alegre, Brazil.
AD  - Graduate Program in Human Movement Sciences, Universidade Federal do Rio Grande 
      do Sul, Porto Alegre, Brazil.
FAU - Saute, Jonas Alex Morales
AU  - Saute JAM
AUID- ORCID: 0000-0003-1141-6573
AD  - Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio 
      Grande do Sul, Porto Alegre, Brazil. jsaute@hcpa.edu.br.
AD  - Medical Genetics division, Hospital de Clinicas de Porto Alegre, Porto Alegre, 
      Brazil. jsaute@hcpa.edu.br.
AD  - Neurogenetics, Clinical Research Center, Hospital de Clinicas de Porto Alegre, 
      Porto Alegre, Brazil. jsaute@hcpa.edu.br.
AD  - Neurology division, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil. 
      jsaute@hcpa.edu.br.
AD  - Internal Medicine Department, Faculdade de Medicina, Universidade Federal do Rio 
      Grande do Sul, Porto Alegre, Brazil. jsaute@hcpa.edu.br.
LA  - eng
GR  - GPPG- HCPA 2017-0341/FIPE-HCPA/
PT  - Journal Article
DEP - 20210709
PL  - United States
TA  - Cerebellum
JT  - Cerebellum (London, England)
JID - 101089443
SB  - IM
MH  - Cross-Sectional Studies
MH  - Gait/physiology
MH  - Humans
MH  - Postural Balance
MH  - Prospective Studies
MH  - *Spastic Paraplegia, Hereditary/diagnosis
MH  - Time and Motion Studies
OTO - NOTNLM
OT  - Gait analysis
OT  - Genetic diseases
OT  - Hereditary spastic paraplegias
OT  - Natural history
OT  - Spasticity
OT  - Walking speed
EDAT- 2021/07/11 06:00
MHDA- 2022/05/18 06:00
CRDT- 2021/07/10 06:25
PHST- 2021/06/23 00:00 [accepted]
PHST- 2021/07/11 06:00 [pubmed]
PHST- 2022/05/18 06:00 [medline]
PHST- 2021/07/10 06:25 [entrez]
AID - 10.1007/s12311-021-01302-2 [pii]
AID - 10.1007/s12311-021-01302-2 [doi]
PST - ppublish
SO  - Cerebellum. 2022 Jun;21(3):350-357. doi: 10.1007/s12311-021-01302-2. Epub 2021 
      Jul 9.