[HTML][HTML] Outcome measures and biomarkers for clinical trials in hereditary spastic paraplegia: a scoping review

SF Siow, D Yeow, LI Rudaks, F Jia, G Wali, CM Sue… - Genes, 2023 - mdpi.com
Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity.
There is no disease-modifying treatment currently available. Therefore, standardized …

Neuroimaging in hereditary spastic paraplegias: from qualitative cues to precision biomarkers

G Mulkerrin, MC França Jr, J Lope… - Expert review of …, 2022 - Taylor & Francis
Introduction Hereditary spastic paraplegias (HSP) include a clinically and genetically
heterogeneous group of conditions. Novel imaging modalities have been increasingly …

Specific gait changes in prodromal hereditary spastic paraplegia Type 4: preSPG4 Study

C Laßmann, W Ilg, M Schneider, M Völker… - Movement …, 2022 - Wiley Online Library
Background In hereditary spastic paraplegia type 4 (SPG4), subclinical gait changes might
occur years before patients realize gait disturbances. The prodromal phase of …

New cellular imaging‐based method to distinguish the SPG4 subtype of hereditary spastic paraplegia

F Sardina, D Valente, G Fattorini, E Cioffi… - European Journal of …, 2023 - Wiley Online Library
Background and purpose Microtubule defects are a common feature in several
neurodegenerative disorders, including hereditary spastic paraplegia. The most frequent …

[HTML][HTML] Dysfunctional neuro-muscular mechanisms explain gradual gait changes in prodromal spastic paraplegia

C Lassmann, W Ilg, TW Rattay, L Schöls… - Journal of …, 2023 - Springer
Abstract Background In Hereditary Spastic Paraplegia (HSP) type 4 (SPG4) a length-
dependent axonal degeneration in the cortico-spinal tract leads to progressing symptoms of …

[HTML][HTML] Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4)

T Lindig, B Bender, E Bürkle, V Kumar, U Ernemann… - Scientific Reports, 2022 - nature.com
Usage of MR imaging biomarkers is limited to experts. Automatic quantitative reports provide
access for clinicians to data analysis. Automated data analysis was tested for usability in a …

Präsymptomatische Charakterisierung von SPG4 Mutationsträgern

M Völker - 2024 - ub01.uni-tuebingen.de
Hereditären spastischen Paraplegien (HSP) sind eine heterogene Gruppe von genetischen
Erkrankungen, die zu einer Degeneration der langen axonalen Bahnen des Rückenmarks …

[HTML][HTML] Hereditary spastic paraplegia

A Datta - medlink.com
Hereditary spastic paraplegia (HSP) | MedLink Neurology Log In Sign Up for a Free Account
Clinical Categories Developmental Malformations Epilepsy & Seizures General Child Neurology …