A founder mutation p. H701P identified as a major cause of SPG 7 in Norway
SL Rydning, IM Wedding, J Koht… - European Journal of …, 2016 - Wiley Online Library
Background and purpose SPG 7 is one of the most common forms of autosomal recessive
hereditary spastic paraplegia. The phenotype has been shown to be heterogeneous …
hereditary spastic paraplegia. The phenotype has been shown to be heterogeneous …
The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia
G Guthrie, G Pfeffer, M Bailie, K Bradshaw… - Journal of …, 2013 - Springer
The hereditary spastic paraplegias (HSPs) are a genetically heterogeneous group of
disorders characterised by progressive corticospinal tract degeneration and the …
disorders characterised by progressive corticospinal tract degeneration and the …
Neuroimaging patterns in paediatric onset hereditary spastic paraplegias
C Dosi, R Pasquariello, C Ticci, G Astrea… - Journal of the …, 2021 - Elsevier
Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group
of neurodegenerative disorders characterized by progressive spasticity and weakness of the …
of neurodegenerative disorders characterized by progressive spasticity and weakness of the …
Genetics of hereditary spastic paraplegias
R Schüle, L Schöls - Seminars in neurology, 2011 - thieme-connect.com
Hereditary spastic paraplegias (HSPs) are clinically and genetically highly heterogeneous.
The key symptom of spastic paraparesis of lower limbs can be complicated by a variety of …
The key symptom of spastic paraparesis of lower limbs can be complicated by a variety of …
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 …
Electrophysiological characterisation in hereditary spastic paraplegia type 5
OBJECTIVE: To assess in SPG5 hereditary spastic paraparesis (HSP) the involvement of the
central (CNS) and the peripheral (PNS) nervous system by a multimodal …
central (CNS) and the peripheral (PNS) nervous system by a multimodal …
SPG8 mutations in Italian families: clinical data and literature review
F Ginanneschi, A D'Amore, M Barghigiani, A Tessa… - Neurological …, 2020 - Springer
Background Spastic paraplegia type 8 (SPG8) is an autosomal-dominant form of hereditary
spastic paraplegia (AD-HSP) caused by a mutation in the KIAA0196 gene. SPG8 accounts …
spastic paraplegia (AD-HSP) caused by a mutation in the KIAA0196 gene. SPG8 accounts …
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China
Y Luo, C Chen, Z Zhan, Y Wang, J Du, Z Hu… - Neurodegenerative …, 2015 - karger.com
Background: Hereditary spastic paraplegias constitute a heterogeneous group of inherited
neurodegenerative disorders. To date, there has been no systematic mutation and clinical …
neurodegenerative disorders. To date, there has been no systematic mutation and clinical …
The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central‐Southern China
C Wang, YJ Zhang, CH Xu, D Li… - Molecular genetics & …, 2021 - Wiley Online Library
Objective Hereditary spastic paraplegias (HSP) is a clinically and genetically heterogeneous
group of neurodegenerative disorders. We describe the genetic and clinical features of a …
group of neurodegenerative disorders. We describe the genetic and clinical features of a …
Monozygotic twins with a new compound heterozygous SPG11 mutation and different disease expression
C Schneider-Gold, G Dekomien… - Journal of the …, 2017 - Elsevier
Background A pair of monozygotic 22-year-old twins with complicated hereditary spastic
paraplegia caused by a novel SPG11 mutation is described. Methods Genetic testing and …
paraplegia caused by a novel SPG11 mutation is described. Methods Genetic testing and …