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 …

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 …

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 …

[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 …

Hereditary spastic paraplegia: new insights into clinical variability and spasticity–ataxia phenotype, and novel mutations

I Sahin, H Saat - Acta Neurologica Belgica, 2021 - Springer
Abstract Introduction Hereditary spastic paraplegias (HSPs), a genetically heterogeneous
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 …

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

KR Kumar, NF Blair, H Vandebona, C Liang, K Ng… - Journal of …, 2013 - Springer
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 …

[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 …

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 …

[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 …