Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey
JL Loureiro, E Brandao, L Ruano, AF Brandao… - JAMA …, 2013 - jamanetwork.com
Importance Hereditary spastic paraplegias (HSPs) are a group of diseases caused by
corticospinal tract degeneration. Mutations in 3 genes (SPG4, SPG3, and SPG31) are said to …
corticospinal tract degeneration. Mutations in 3 genes (SPG4, SPG3, and SPG31) are said to …
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders
that are clinically classified as either pure with predominant lower limb spasticity, or complex …
that are clinically classified as either pure with predominant lower limb spasticity, or complex …
Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort
KLI Van Gassen, CDCC van der Heijden, ST de Bot… - Brain, 2012 - academic.oup.com
Spastic paraplegia type 7 is an autosomal recessive neurodegenerative disorder mainly
characterized by progressive bilateral lower limb spasticity and referred to as a form of …
characterized by progressive bilateral lower limb spasticity and referred to as a form of …
Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia
W Zhao, QY Zhu, JT Zhang, H Liu, LJ Wang… - Journal of the …, 2013 - Elsevier
Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by
progressive weakness and spasticity of the lower limbs, in complicated forms, with additional …
progressive weakness and spasticity of the lower limbs, in complicated forms, with additional …
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
A Magariello, M Muglia, A Patitucci, C Ungaro… - Journal of the …, 2010 - Elsevier
Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia
(HSP) accounting for up to 40% of autosomal dominant (AD) forms and 12–18% of sporadic …
(HSP) accounting for up to 40% of autosomal dominant (AD) forms and 12–18% of sporadic …
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia
N Elleuch, C Depienne, A Benomar, AMO Hernandez… - Neurology, 2006 - AAN Enterprises
Background: Mutations in the SPG7 gene, which encodes paraplegin, are responsible for an
autosomal recessive hereditary spastic paraplegia (HSP). Objective: To screen the SPG7 …
autosomal recessive hereditary spastic paraplegia (HSP). Objective: To screen the SPG7 …
Neurometabolic dysfunction in SPG11 hereditary spastic paraplegia
M Regensburger, L Krumm, MA Schmidt, A Schmid… - Nutrients, 2022 - mdpi.com
Background: Pathogenic variants in SPG11 cause the most common autosomal recessive
complicated hereditary spastic paraplegia. Besides the prototypical combination of spastic …
complicated hereditary spastic paraplegia. Besides the prototypical combination of spastic …
Severe axonal neuropathy is a late manifestation of SPG11
Complex hereditary spastic paraplegia (HSP) is a clinically heterogeneous group of
disorders usually inherited in an autosomal recessive manner. In the past, complex …
disorders usually inherited in an autosomal recessive manner. In the past, complex …
Cognitive impairment involving social cognition in SPG4 hereditary spastic paraplegia
L Chamard, S Ferreira, A Pijoff, M Silvestre… - Behavioural …, 2016 - Wiley Online Library
Objectives. To describe cognitive assessment including social cognition in SPG4 patients.
Methods. We reported a series of nine patients with SPG4 mutation with an extensive …
Methods. We reported a series of nine patients with SPG4 mutation with an extensive …
White matter alterations in spastic paraplegia type 5: a multiparametric structural MRI study and correlations with biochemical measurements
Y Liu, Z Ye, J Hu, Z Xiao, F Zhang… - American Journal …, 2022 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: In spastic paraplegia type 5, spinal cord atrophy and white
matter signal abnormalities in the brain are the main MR imaging alterations. However, the …
matter signal abnormalities in the brain are the main MR imaging alterations. However, the …