Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51518
Abstract: While the anticipated rise of disease‐modifying therapies calls for reliable trial outcome parameters, fluid biomarkers are lacking in spastic paraplegia type 4 (SPG4), the most prevalent form of hereditary spastic paraplegia. We therefore investigated serum… read more here.
Keywords: spastic paraplegia; neurofilament light; paraplegia; hereditary spastic ... See more keywords
Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51724
Abstract: NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic paraplegia type 6 (SPG6). The aim of this study was to investigate the clinical and genetic features of SPG6 in… read more here.
Keywords: spastic paraplegia; paraplegia; hereditary spastic; genetic characterization ... See more keywords
Transient paraplegia in lumbar spine surgery—a potential complication following erector spinae plane block
Sign Up to like & getrecommendations! Published in 2021 at "European Spine Journal"
DOI: 10.1007/s00586-021-07059-w
Abstract: Erector spinae plane block (ESPB) has gained popularity over recent years and is being increasingly used in spine surgery for pain management. To date, no major neurological complications have been reported. We present here two… read more here.
Keywords: spine surgery; transient paraplegia; paraplegia; spine ... See more keywords
Paraplegia Following Type B Acute Aortic Dissection Can Spare the Spinal Cord.
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Vascular Surgery"
DOI: 10.1016/j.avsg.2020.08.133
Abstract: Ischemic lumbosacral plexopathy secondary to an acute aortic dissection is a rare condition that is usually unilateral and frequently accompanied by a simultaneous spinal cord infarction. The functional prognosis relies on the severity of the… read more here.
Keywords: aortic dissection; spinal cord; acute aortic; paraplegia ... See more keywords
In silico computation of functional SNPs of CYP2U1 protein leading to hereditary spastic paraplegia
Sign Up to like & getrecommendations! Published in 2021 at "Informatics in Medicine Unlocked"
DOI: 10.1016/j.imu.2021.100610
Abstract: Abstract Hereditary spastic paraplegia is a genetically heterogeneous neurological disease mainly characterized by growing spasticity in a lower limb area. Spastic paraplegia 56 (SPG56) causes the autosomal recessive form of hereditary spastic paraplegia. Over time,… read more here.
Keywords: hereditary spastic; spastic paraplegia; missense variants; computation functional ... See more keywords
Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2016.11.032
Abstract: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder, which is characterized by the spasticity of the lower limbs due to pyramidal tract dysfunction. More than 70 different genetic HSP forms have… read more here.
Keywords: spinocerebellar ataxia; kif1a mutation; bean tk2; paraplegia ... See more keywords
Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2020.116691
Abstract: BACKGROUND Mutations in CAPN1 have recently been reported to cause the spastic paraplegia 76 (SPG76) subtype of hereditary spastic paraplegia (HSP). To investigate the role of CAPN1 in spastic paraplegia and other neurodegenerative diseases, including… read more here.
Keywords: neurodegenerative diseases; spastic paraplegia; paraplegia; mutation analysis ... See more keywords
Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2020.117211
Abstract: Spastic paraplegia type 5 (SPG5/HSP-CYP7B1) is an autosomal recessive hereditary spastic paraplegia (HSP) caused by biallelic variants in the CYP7B1 gene, resulting in dysfunction of the enzyme oxysterol-7-α-hydroxylase. The consequent accumulation of hydroxycholesterols in plasma… read more here.
Keywords: hereditary spastic; hsp; spastic paraplegia; paraplegia ... See more keywords
Heterotopic triggered HAL method for patients with complete quadriplegia or paraplegia due to chronic spinal cord injury
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Physical and Rehabilitation Medicine"
DOI: 10.1016/j.rehab.2018.05.1140
Abstract: Introduction/Background Patients with complete paraplegia after spinal cord injury (SCI) are difficult to walk by themselves. Gait training with conventional orthoses requires excessive upper limb usage and is difficult to train knee extensor during ambulation.… read more here.
Keywords: patients complete; session; method; paraplegia ... See more keywords
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation
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DOI: 10.1038/ejhg.2017.85
Abstract: Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0–24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older… read more here.
Keywords: progressive hereditary; hereditary spastic; paraplegia caused; caused homozygous ... See more keywords
Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia
Sign Up to like & getrecommendations! Published in 2018 at "Journal of human genetics"
DOI: 10.1038/s10038-018-0523-y
Abstract: Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified… read more here.
Keywords: locus allelic; allelic heterogeneity; hereditary spastic; paraplegia ... See more keywords