Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis
OBJECTIVE: To assess the mutational and clinical spectrum of spatacsin associated with
autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum …
autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum …
Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum
AA Aleem, N Abu-Shahba, D Swistun, J Silhavy… - European journal of …, 2011 - Elsevier
Hereditary spastic paraplegia (HSP) represents a large group of neurological disorders
characterized by progressive spasticity of the lower limbs. One subtype of HSP shows an …
characterized by progressive spasticity of the lower limbs. One subtype of HSP shows an …
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity
T Pippucci, E Panza, E Pompilii… - European journal of …, 2009 - Wiley Online Library
Background and purpose: Autosomal Recessive Hereditary Spastic Paraplegia with Thin
Corpus Callosum (AR‐HSPTCC) is a clinically and genetically heterogeneous complicated …
Corpus Callosum (AR‐HSPTCC) is a clinically and genetically heterogeneous complicated …
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum
C Crimella, A Arnoldi, F Crippa… - Journal of medical …, 2009 - jmg.bmj.com
Background: Hereditary spastic paraplegia (HSP) with thin corpus callosum (HSP-TCC) is a
frequent subtype of complicated HSP clinically characterised by slowly progressive spastic …
frequent subtype of complicated HSP clinically characterised by slowly progressive spastic …
SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation
R Del Bo, A Di Fonzo, S Ghezzi, F Locatelli, G Stevanin… - Neurogenetics, 2007 - Springer
Hereditary spastic paraplegias (HSP) are a heterogeneous group of neurodegenerative
disorders leading to progressive spasticity of the lower limbs. Here, we describe clinical and …
disorders leading to progressive spasticity of the lower limbs. Here, we describe clinical and …
Clinical heterogeneity and genotype‐phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)
C Paisan‐Ruiz, P Nath, NW Wood… - European journal of …, 2008 - Wiley Online Library
Background: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus
callosum is a distinct and usually severe form of complex hereditary spastic paraplegia …
callosum is a distinct and usually severe form of complex hereditary spastic paraplegia …
Long‐term course and mutational spectrum of spatacsin‐linked spastic paraplegia
Abstract Objective Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group
of neurodegenerative disorders resulting in progressive spasticity of the lower limbs. One …
of neurodegenerative disorders resulting in progressive spasticity of the lower limbs. One …
[HTML][HTML] A novel variant in the spatacsin gene causing SPG11 in a Malian family
G Landouré, K Dembélé, L Cissé, S Diarra… - Journal of the …, 2020 - ncbi.nlm.nih.gov
Hereditary spastic paraplegia (HSP) is a group of heterogeneous neurodegenerative
disorders presenting with spasticity and mild weakness in lower limbs in their pure form or …
disorders presenting with spasticity and mild weakness in lower limbs in their pure form or …
Novel compound heterozygous spatacsin mutations in a Greek kindred with hereditary spastic paraplegia SPG11 and dementia
MJ Fraidakis, M Brunetti, C Blackstone… - Neurodegenerative …, 2016 - karger.com
SPG11 belongs to the autosomal recessive hereditary spastic paraplegias (HSP) and
presents during childhood or puberty with a complex clinical phenotype encompassing …
presents during childhood or puberty with a complex clinical phenotype encompassing …
SPG11 spastic paraplegia: a new cause of juvenile parkinsonism
M Anheim, C Lagier-Tourenne, G Stevanin, M Fleury… - Journal of …, 2009 - Springer
Autosomal recessive hereditary spastic paraplegia (AR HSP) with thin corpus callosum
(TCC) is a rare neurodegenerative disorder often caused by mutations in the gene encoding …
(TCC) is a rare neurodegenerative disorder often caused by mutations in the gene encoding …