Genotype–phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients
M Erfanian Omidvar, S Torkamandi, S Rezaei… - Journal of …, 2021 - Springer
Aims The hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited
neurodegenerative disorders. Although, several genotype–phenotype studies have carried …
neurodegenerative disorders. Although, several genotype–phenotype studies have carried …
Clinical and molecular characterization of hereditary spastic paraplegias: a next-generation sequencing panel approach
D Burguez, M Polese-Bonatto, LAJ Scudeiro… - Journal of the …, 2017 - Elsevier
Background Molecular diagnosis of hereditary spastic paraplegias (HSP) is a difficult task
due to great clinical and genetic heterogeneity. We aimed to characterize clinical and …
due to great clinical and genetic heterogeneity. We aimed to characterize clinical and …
Brain atrophy in pure and complicated hereditary spastic paraparesis: a quantitative 3D MRI study
J Kassubek, AD Sperfeld… - European journal of …, 2006 - Wiley Online Library
Hereditary spastic paraparesis (HSP) is a heterogeneous group of neurodegenerative
disorders with progressive lower limb spasticity, categorized into pure (p‐HSP) and …
disorders with progressive lower limb spasticity, categorized into pure (p‐HSP) and …
[HTML][HTML] Expanded phenotype in a patient with spastic paraplegia 7
J Gass, PR Blackburn, J Jackson, S Macklin… - Clinical Case …, 2017 - ncbi.nlm.nih.gov
Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders
characterized by progressive bilateral lower limb weakness and spasticity. In addition, HSP …
characterized by progressive bilateral lower limb weakness and spasticity. In addition, HSP …
Hereditary spastic paraplegia: new insights into clinical variability and spasticity–ataxia phenotype, and novel mutations
Abstract Introduction Hereditary spastic paraplegias (HSPs), a genetically heterogeneous
group of neurodegenerative diseases, have an incidence of around 3 to 9 individuals every …
group of neurodegenerative diseases, have an incidence of around 3 to 9 individuals every …
KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing
WW Lee, CG Lee, CS Ki - … Journal of Medical Genetics Part B …, 2024 - Wiley Online Library
Hereditary spastic paraplegia (HSP) is a group of familial diseases characterized by
progressive corticospinal tract degeneration. Clinically, patients present with lower‐limb …
progressive corticospinal tract degeneration. Clinically, patients present with lower‐limb …
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia
Molecular characterization is important for an accurate diagnosis in hereditary spastic
paraplegia (HSP). Mutations in the gene SPAST (SPG4) are the most common cause of …
paraplegia (HSP). Mutations in the gene SPAST (SPG4) are the most common cause of …
[HTML][HTML] Hereditary spastic paraplegia from 1880 to 2017: an historical review
I Faber, ER Pereira, ARM Martinez… - Arquivos de neuro …, 2017 - SciELO Brasil
The authors have constructed a brief timeline of major clinical research related to hereditary
spastic paraplegia (HSP). This timeline summarizes the evolution of HSP research, from the …
spastic paraplegia (HSP). This timeline summarizes the evolution of HSP research, from the …
Hereditary spastic paraplegia: more than an upper motor neuron disease
L Parodi, S Fenu, G Stevanin, A Durr - Revue neurologique, 2017 - Elsevier
Hereditary spastic paraplegias (HSPs) are a group of rare inherited neurological diseases
characterized by extreme heterogeneity in both their clinical manifestations and genetic …
characterized by extreme heterogeneity in both their clinical manifestations and genetic …
[HTML][HTML] Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia
Q Wei, HL Dong, LY Pan, CX Chen, YT Yan… - Translational …, 2019 - Springer
Background Although many causative genes of hereditary spastic paraplegia (HSP) have
been uncovered in recent years, there are still approximately 50% of HSP patients without …
been uncovered in recent years, there are still approximately 50% of HSP patients without …