An update on the hereditary spastic paraplegias: new genes and new disease models
Aims The hereditary spastic paraplegias (HSP s) are a heterogeneous group of disorders
characterized by spasticity in the lower limbs. We provide an overview of HSP with an …
characterized by spasticity in the lower limbs. We provide an overview of HSP with an …
Murine models of autosomal recessive hereditary spastic paraplegia
C Blackstone - Movement Disorders, 2015 - Elsevier
The hereditary spastic paraplegias (HSPs) are among the most genetically diverse
neurological disorders, with almost 60 distinct genetic loci already mapped and over 30 …
neurological disorders, with almost 60 distinct genetic loci already mapped and over 30 …
Mouse models of autosomal dominant spastic paraplegia
C Fassier, J Hazan, J Melki - Movement Disorders, 2015 - Elsevier
Mouse models of human disorders provide critical tools in translational medicine to unravel
pathogenic mechanisms and develop therapeutic strategies. Hereditary spastic paraplegia …
pathogenic mechanisms and develop therapeutic strategies. Hereditary spastic paraplegia …
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia
Y Cao, H Zheng, Z Zhu, L Yao, W Tian… - Movement …, 2024 - Wiley Online Library
Background Next‐generation sequencing‐based molecular assessment has benefited the
diagnosis of hereditary spastic paraplegia (HSP) subtypes. However, the clinical and …
diagnosis of hereditary spastic paraplegia (HSP) subtypes. However, the clinical and …
Evidence for non‐Mendelian inheritance in spastic paraplegia 7
Background Although the typical inheritance of spastic paraplegia 7 is recessive, several
reports have suggested that SPG7 variants may also cause autosomal dominant hereditary …
reports have suggested that SPG7 variants may also cause autosomal dominant hereditary …
Brain damage and gene expression across hereditary spastic paraplegia subtypes
KR Servelhere, TJR Rezende, FD de Lima… - Movement …, 2021 - Wiley Online Library
Background Spinal cord has been considered the main target of damage in hereditary
spastic paraplegias (HSPs), but mounting evidence indicates that the brain is also affected …
spastic paraplegias (HSPs), but mounting evidence indicates that the brain is also affected …
Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST
A Mo, A Saffari, M Kellner… - Movement …, 2022 - Wiley Online Library
Background Familial hereditary spastic paraplegia (HSP)‐SPAST (SPG4) typically presents
with a pure HSP phenotype. Objective The aim of this study was to delineate the genotypic …
with a pure HSP phenotype. Objective The aim of this study was to delineate the genotypic …
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
X Lin, JY Jiang, D Hong, KJ Lin, JJ Li… - Movement …, 2024 - Wiley Online Library
Background Hereditary spastic paraplegias (HSP) are neurologic disorders characterized by
progressive lower‐extremity spasticity. Despite the identification of several HSP‐related …
progressive lower‐extremity spasticity. Despite the identification of several HSP‐related …
“Ear of the lynx” sign in hereditary spastic paraparesis (HSP) 76
A Agarwal, R Oinam, V Goel, P Sharma… - Movement Disorders …, 2023 - Wiley Online Library
Abstract Background Hereditary Spastic Paraparesis (HSP) are a group of genetically
inherited disorders, clinically and genetically heterogenous and characterized by …
inherited disorders, clinically and genetically heterogenous and characterized by …
Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia
YJ Chen, MW Wang, YS Qiu, RY Yuan… - Movement …, 2023 - Wiley Online Library
Objectives To diagnose the molecular cause of hereditary spastic paraplegia (HSP)
observed in a four‐generation family with autosomal dominant inheritance. Methods …
observed in a four‐generation family with autosomal dominant inheritance. Methods …