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 …

Evidence for non‐Mendelian inheritance in spastic paraplegia 7

MA Estiar, E Yu, I Haj Salem, JP Ross… - Movement …, 2021 - Wiley Online Library
Background Although the typical inheritance of spastic paraplegia 7 is recessive, several
reports have suggested that SPG7 variants may also cause autosomal dominant hereditary …

Specific pattern of early white‐matter changes in pure hereditary spastic paraplegia

T Duning, T Warnecke, A Schirmacher… - Movement …, 2010 - Wiley Online Library
Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous
neurodegenerative disorders. Most MR studies on HSP include very heterogeneous …

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 …

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects

T Warnecke, T Duning, A Schirmacher… - Movement …, 2010 - Wiley Online Library
Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous
neurodegenerative disorders. The purpose of this study was to assess the genotype and …

An update on the hereditary spastic paraplegias: new genes and new disease models

KR Kumar, NF Blair, CM Sue - Movement disorders clinical …, 2015 - Wiley Online Library
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 …

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 …

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early‐onset levodopa‐responsive Parkinsonism

A Guidubaldi, C Piano, FM Santorelli… - Movement …, 2011 - Wiley Online Library
Background: Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is
a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment …

Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways

M Synofzik, R Schüle - Movement Disorders, 2017 - Wiley Online Library
Autosomal‐dominant spinocerebellar ataxias, autosomal‐recessive spinocerebellar ataxias,
and hereditary spastic paraplegias have traditionally been designated in separate …

SPG11 Mutations Associated With a Complex Phenotype Resembling Dopa‐Responsive Dystonia

S Wijemanne, JM Shulman… - Movement disorders …, 2015 - Wiley Online Library
Background: The aim of this study was to describe a case of hereditary spastic paraplegia
(HSP) resulting from SPG 11 mutations, presenting with a complex phenotype of dopa …