[HTML][HTML] Syringomyelia: A New Phenotype of SPG11-Related Hereditary Spastic Paraplegia?
GH Kim, T Song, J Lee, DH Jang - Brain & Neurorehabilitation, 2023 - ncbi.nlm.nih.gov
Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative disorders
affecting motor neurons in the central nervous system. HSP type 11 is the most frequent …
affecting motor neurons in the central nervous system. HSP type 11 is the most frequent …
[HTML][HTML] Are cognitive changes in hereditary spastic paraplegias restricted to complicated forms?
LA Jacinto-Scudeiro, G Dariva Machado… - Frontiers in …, 2019 - frontiersin.org
Background: Little is known about the cognitive profile of Hereditary Spastic Paraplegias
(HSP), where most scientific attention has been given to motor features related to …
(HSP), where most scientific attention has been given to motor features related to …
[HTML][HTML] Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes
S Wiethoff, A Zhour, L Schöls, MD Fischer - BMC neurology, 2012 - Springer
Background Reduction of retinal nerve fibre layer (RNFL) thickness was shown as part of the
neurodegenerative process in a range of different neurodegenerative pathologies including …
neurodegenerative process in a range of different neurodegenerative pathologies including …
Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients
J Du - Journal of Clinical Neuroscience, 2021 - Elsevier
Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype of autosomal
recessive hereditary spastic paraplegia (HSP), to date, there are more than 181 different …
recessive hereditary spastic paraplegia (HSP), to date, there are more than 181 different …
Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence
Background: Cognitive impairment and dementia has been reported in autosomal dominant
hereditary spastic paraparesis (HSP) linked to the SPG4 locus. There has only been one …
hereditary spastic paraparesis (HSP) linked to the SPG4 locus. There has only been one …
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
M Namekawa, P Ribai, I Nelson, S Forlani, F Fellmann… - Neurology, 2006 - AAN Enterprises
Seven families with six different SPG3A mutations were identified among 106 with
autosomal dominant hereditary spastic paraplegia (HSP). Two mutations were novel …
autosomal dominant hereditary spastic paraplegia (HSP). Two mutations were novel …
White matter abnormalities in 15 subjects with SPG76
Background and objectives Hereditary spastic paraplegias (HSPs) are heterogenous
genetic disorders characterized by progressive pyramidal tract involvement. SPG76 is a …
genetic disorders characterized by progressive pyramidal tract involvement. SPG76 is a …
[HTML][HTML] Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China
EL Dong, C Wang, S Wu, YQ Lu, XH Lin, HZ Su… - Molecular …, 2018 - Springer
Background Hereditary spastic paraplegias (HSP) is a heterogeneous group of rare
neurodegenerative disorders affecting the corticospinal tracts. To date, more than 78 HSP …
neurodegenerative disorders affecting the corticospinal tracts. To date, more than 78 HSP …
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting
S Klebe, G Stevanin, C Depienne - Revue neurologique, 2015 - Elsevier
Hereditary spastic paraplegias (HSPs) are genetically determined neurodegenerative
disorders characterized by progressive weakness and spasticity of lower limbs, and are …
disorders characterized by progressive weakness and spasticity of lower limbs, and are …
[PDF][PDF] Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation.
A Romagnolo, S Masera, A Mattioda, G Superti… - European Journal of …, 2014 - iris.unito.it
Besides medical history, clinical evaluation and laboratory analysis, magnetic resonance
imaging (MRI) represents an incomparable tool for a complete MS diagnostic work-up [2]; …
imaging (MRI) represents an incomparable tool for a complete MS diagnostic work-up [2]; …