[HTML][HTML] Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia
KS Utz, Z Kohl, DC Marterstock, A Doerfler… - Orphanet Journal of …, 2022 - Springer
Background SPG11-linked hereditary spastic paraplegia is characterized by multisystem
neurodegeneration leading to a complex clinical and yet incurable phenotype of progressive …
neurodegeneration leading to a complex clinical and yet incurable phenotype of progressive …
Hereditary spastic paraplegia: beyond clinical phenotypes toward a unified pattern of central nervous system damage
F Agosta, M Scarlato, EG Spinelli, E Canu, S Benedetti… - Radiology, 2015 - pubs.rsna.org
Purpose To investigate whether specific patterns of brain gray matter (GM) regional volumes
and white matter (WM) microstructural abnormalities and spinal cord atrophy occur in …
and white matter (WM) microstructural abnormalities and spinal cord atrophy occur in …
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation
T Warnecke, T Duning, A Schwan, H Lohmann… - Neurology, 2007 - AAN Enterprises
Background: Hereditary spastic paraplegia (HSP) is a clinically and genetically
heterogeneous neurodegenerative disorder characterized by progressive spastic …
heterogeneous neurodegenerative disorder characterized by progressive spastic …
[HTML][HTML] SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage
I Faber, ARM Martinez, TJR de Rezende… - NeuroImage: Clinical, 2018 - Elsevier
SPG11 mutations are the major cause of autosomal recessive Hereditary Spastic
Paraplegia. The disease has a wide phenotypic variability indicating many regions of the …
Paraplegia. The disease has a wide phenotypic variability indicating many regions of the …
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 …
White and grey matter abnormalities in patients with SPG11 mutations
Background Mutations in SPG11 are the most frequent known cause of autosomal recessive
hereditary spastic paraplegia. Corpus callosum thinning is a hallmark of the condition but …
hereditary spastic paraplegia. Corpus callosum thinning is a hallmark of the condition but …
Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia
P McMonagle, P Byrne, M Hutchinson - Neurology, 2004 - AAN Enterprises
Objective: To investigate the progression of cognitive impairment and its behavioral aspects
in patients with SPG4-linked autosomal dominant hereditary spastic paraplegia (SPG4 …
in patients with SPG4-linked autosomal dominant hereditary spastic paraplegia (SPG4 …
Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia
F Garaci, N Toschi, S Lanzafame… - International Journal …, 2014 - Taylor & Francis
The aim of this study was to identify potential diagnostic markers of Hereditary Spastic
Paraplegia (HSP). We investigated the white matter features of spastic gait (SPG) 11-and …
Paraplegia (HSP). We investigated the white matter features of spastic gait (SPG) 11-and …
[HTML][HTML] Clinical analysis in patients with SPG11 hereditary spastic paraplegia
YR Kang, TS Nam, JM Kim, KW Kang, SM Choi… - Frontiers in …, 2023 - frontiersin.org
Background To analyze the clinical phenotype of hereditary spastic paraplegia (HSP)
caused by SPG11 mutations (SPG11-HSP). Methods Among the 17 patients with sporadic …
caused by SPG11 mutations (SPG11-HSP). Methods Among the 17 patients with sporadic …
SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China
YJ Yang, ZF Zhou, XX Liao, YY Luo, ZX Zhan… - Journal of …, 2016 - Springer
Hereditary spastic paraplegias (HSP/SPGs) constitute a clinically and genetically
heterogeneous group of neurodegenerative disorders. Inheritance of the disease has been …
heterogeneous group of neurodegenerative disorders. Inheritance of the disease has been …