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 …

Management of hereditary spastic paraplegia: a systematic review of the literature

M Bellofatto, G De Michele, A Iovino, A Filla… - Frontiers in …, 2019 - frontiersin.org
The term hereditary spastic paraplegia (HSP) embraces a clinically and genetically
heterogeneous group of neurodegenerative diseases characterized by progressive …

Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands

BJH van Lith, HCJW Kerstens… - Orphanet journal of rare …, 2020 - Springer
Background Hereditary spastic paraplegia (HSP) is a group of inherited disorders
characterized by progressive spastic paresis of the lower limbs. Treatment is often focused …

Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis

SM Fereshtehnejad, PA Saleh, LM Oliveira, N Patel… - Neurological …, 2023 - Springer
Background Hereditary spastic paraplegia (HSP) is a rare genetic disorder associated with
mutations in> 80 loci designated SPG (SPastic parapleGia). The phenotypic spectrum of …

Clinical trial designs and measures in hereditary spastic paraplegias

B Trummer, D Haubenberger, C Blackstone - Frontiers in neurology, 2018 - frontiersin.org
Hereditary spastic paraplegias (HSPs) are a large group of genetically-diverse neurologic
disorders characterized clinically by a common feature of lower extremity spasticity and gait …

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 …

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

S Shribman, E Reid, AH Crosby, H Houlden… - The Lancet …, 2019 - thelancet.com
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic
neurodegenerative diseases characterised by progressive spasticity of the lower limbs. The …

Challenges and controversies in the genetic diagnosis of hereditary spastic paraplegia

L Saputra, KR Kumar - Current neurology and neuroscience reports, 2021 - Springer
Abstract Purpose of Review The hereditary spastic paraplegias (HSPs) are a group of
disorders characterised by progressive lower limb weakness and spasticity. We address the …

Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands

HCJW Kerstens, BJH Van Lith, MJ Nijkrake… - Orphanet journal of rare …, 2021 - Springer
Background We aimed to identify healthcare needs, expectations, utilization, and the
experienced treatment effects in a population of Dutch patients with hereditary spastic …

Mobile digital gait analysis objectively measures progression in hereditary spastic paraplegia

E Loris, M Ollenschläger, T Greinwalder… - Annals of Clinical …, 2023 - Wiley Online Library
Progressive spasticity and gait impairment is the functional hallmark of hereditary spastic
paraplegia (HSP), but due to inter‐individual variability, longitudinal studies on its …