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Journal articles on the topic 'Spastic paraplegia'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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1

Mohan, Neha, Liang Qiang, Gerardo Morfini, and Peter W. Baas. "Therapeutic Strategies for Mutant SPAST-Based Hereditary Spastic Paraplegia." Brain Sciences 11, no. 8 (2021): 1081. http://dx.doi.org/10.3390/brainsci11081081.

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Mutations of the SPAST gene that encodes the microtubule-severing enzyme called spastin are the chief cause of Hereditary Spastic Paraplegia. Growing evidence indicates that pathogenic mutations functionally compromise the spastin protein and endow it with toxic gain-of-function properties. With each of these two factors potentially relevant to disease etiology, the present article discusses possible therapeutic strategies that may ameliorate symptoms in patients suffering from SPAST-based Hereditary Spastic Paraplegia, which is usually termed SPG4-HSP.

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2

Hadzsiev, Kinga, László Balikó, Katalin Komlósi, et al. "Genetic testing of hereditary spastic paraplegia." Orvosi Hetilap 156, no. 3 (2015): 113–17. http://dx.doi.org/10.1556/oh.2015.30014.

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Introduction: Hereditary spastic paraplegia is the overall term for clinically and genetically diverse disorders characterized with progressive and variable severe lower extremity spasticity. The most common causes of autosomal dominantly inherited hereditary spastic paraplegias are different mutations of the spastin gene with variable incidence in different ethnic groups, ranging between 15–40%. Mutations in the spastin gene lead to loss of spastins function, causing progressive neuronal failure, which results in axon degeneration finally. Aim: The molecular testing of spastin gene is availab

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3

Olmez, Akgun, and Haluk Topaloglu. "HEREDITARY SPASTIC PARAPLEGIA: PATHOGENESIS AND PATHOPHYSIOLOGY." National Journal of Neurology 1, no. 05 (2014): 10–22. http://dx.doi.org/10.61788/njn.v1i14.01.

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- Hereditary spastic paraplegias constitute a larger group of disorders than expected. - Autosomal dominant types are mainly composed of SPAST, Atlastin (SPG3A) and REEP1 mutations. Genetic testing is suggested mainly for these genes. - The most common autosomal recessive type is SPG11, hereditary spastic paraplegia with thin corpus callosum, but SPG15 shares the same clinical features with SPG11. Genetic testing should be done for both if thin corpus callosum is present in patients. - How different genes with many different biological functions, including axonal transport, mitochondrial funct

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Olmez, Akgun, and Haluk Topaloglu. "Hereditary spastic paraplegia:Pathogenesis and pathophysiology." NATIONAL JOURNAL OF NEUROLOGY, no. 5 (December 4, 2018): 1–13. http://dx.doi.org/10.28942/nnj.v1i5.105.

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 Hereditary spastic paraplegias constitute a larger group of disorders than expected. Autosomal dominant types are mainly composed of SPAST, Atlastin (SPG3A) and REEP1 Genetic testing is suggested mainly for these genes. The most common autosomal recessive type is SPG11, hereditary spastic paraplegia with thin corpus callosum, but SPG15 shares the same clinical features with SPG11. Genetic testing should be done for both if thin corpus callosum is present in patients.  How different genes with many different biological functions, including axonal transport, mitoch

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Lin, Xiang, Hui-Zhen Su, En-Lin Dong, et al. "Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia." Brain 142, no. 8 (2019): 2238–52. http://dx.doi.org/10.1093/brain/awz158.

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Abstract Hereditary spastic paraplegias refer to a heterogeneous group of neurodegenerative disorders resulting from degeneration of the corticospinal tract. Clinical characterization of patients with hereditary spastic paraplegias represents progressive spasticity, exaggerated reflexes and muscular weakness. Here, to expand on the increasingly broad pools of previously unknown hereditary spastic paraplegia causative genes and subtypes, we performed whole exome sequencing for six affected and two unaffected individuals from two unrelated Chinese families with an autosomal dominant hereditary s

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Zhalsanova, Irina Zh, Elizaveta A. Fonova, Nail R. Valiakhmetov, et al. "Case Report: a novel splice variant of SPAST gene in autosomal dominant spastic paraplegia, type 4." Vestnik Tomskogo gosudarstvennogo universiteta. Biologiya, no. 69 (2025): 83–92. https://doi.org/10.17223/19988591/69/10.

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Hereditary spastic paraplegia is a clinically and genetically heterogeneous group of rare neurodegenerative diseases that is characterized by slowly progressive spasticity and weakness in the lower limbs. The prevalence of the disease reaches 1-5 cases per 100,000 populations. Clinically, the disease is divided into pure and complicated spastic paraplegia. Pure spastic paraplegia is mainly characterized by slowly progressive weakness and spasticity of the lower limbs. Complicated spastic paraplegia includes leg spasticity, optic neuropathy, retinopathy, extrapyramidal dysfunction, dementia, at

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Tadepalle, Nimesha, Lennart Robers, Matteo Veronese, et al. "Microtubule-dependent and independent roles of spastin in lipid droplet dispersion and biogenesis." Life Science Alliance 3, no. 6 (2020): e202000715. http://dx.doi.org/10.26508/lsa.202000715.

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Lipid droplets (LDs) are metabolic organelles that store neutral lipids and dynamically respond to changes in energy availability by accumulating or mobilizing triacylglycerols (TAGs). How the plastic behavior of LDs is regulated is poorly understood. Hereditary spastic paraplegia is a central motor axonopathy predominantly caused by mutations in SPAST, encoding the microtubule-severing protein spastin. The spastin-M1 isoform localizes to nascent LDs in mammalian cells; however, the mechanistic significance of this targeting is not fully explained. Here, we show that tightly controlled levels

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8

Komachali, Sajad Rafiee, Zakieh Siahpoosh, and Mansoor Salehi. "Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran." Genomics & Informatics 20, no. 3 (2022): e30. http://dx.doi.org/10.5808/gi.22030.

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Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by dominant and recessive mutations that have been found recently. Autosomal recessive hereditary spastic paraplegia is a common and clinical type of familial spastic paraplegia linked to the SPG11 locus (locates on 15q21.1). There are different symptoms of spastic paraplegia, such as muscle atrophy, moderate MR, short stature, balance problem, and lower limb we

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9

Shin, Sanghoon, Jinyoung Park, Juntaek Hong, and Jung Hyun Park. "Improved gait speed in spastic paraplegia: a new modality." BMJ Supportive & Palliative Care 10, no. 4 (2019): e41-e41. http://dx.doi.org/10.1136/bmjspcare-2018-001738.

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ObjectivesThe gait disturbance in spastic paraplegic patients lowers the gait speed, increases fall risk and eventually lower the quality of life. This study aims to investigate the effect of electrical twitch obtaining intramuscular stimulation (ETOIMS) on spastic paraplegic patients’ gait speed and pattern.MethodsA prospective short-term cohort study was designed in the outpatient clinic of the department of rehabilitation in a tertiary hospital. Patients with spastic paraplegia (N=5) were participated, including spinal cord tumour (N=2), cervical myelitis (N=1), hereditary spastic paraplegi

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Nagai, Takahiro, Yoko Sunami, Risa Kato, et al. "Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report." Case Reports in Neurology 13, no. 1 (2021): 84–91. http://dx.doi.org/10.1159/000512404.

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Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by the mutations in the <i>SPAST</i> gene, which encodes a microtubule-severing protein named spastin. Spastin regulates the number and mobility of microtubules and is essential for axonal outgrowth and neuronal morphogenesis. Herein, we report a patient with SPG4 harboring a novel donor splice site mutation in the <i>SPAST</i> gene (c.1616+1dupG). Although SPG4 usually manifests itself as a pure form of HSP, this patient exhibited a slow progressive cognitive decline

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11

Lockwood, Annette M. "Spastic Paraplegia." Neurology Now 4, no. 3 (2008): 9. http://dx.doi.org/10.1097/01.nnn.0000324745.83988.de.

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&NA;. "Spastic Paraplegia." Neurology Now 4, no. 3 (2008): 9. http://dx.doi.org/10.1097/01.nnn.0000324746.66062.4e.

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Graciani, Zodja, Silvana Santos, Lucia Inês Macedo-Souza, et al. "Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN)." Arquivos de Neuro-Psiquiatria 68, no. 1 (2010): 03–06. http://dx.doi.org/10.1590/s0004-282x2010000100002.

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Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically defined by congenital optic atrophy, infancy-onset progressive spastic paraplegia and peripheral neuropathy. In this study, which included 61 individuals (age 5-72 years, 42 females) affected by SPOAN, a comprehensive motor and functional evaluation was performed, using modified Barthel index, modified Ashworth scale, hand grip strength measured with a hydraulic dynamometer and two hereditary spastic paraplegia scales. Modified Barthel index

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Garcia-Berlanga, Jesus Eduardo, Mariana Moscovich, Isaac Jair Palacios, Alejandro Banegas-Lagos, Augusto Rojas-Martinez, and Daniel Martinez-Ramirez. "CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76." Case Reports in Neurological Medicine 2019 (July 1, 2019): 1–5. http://dx.doi.org/10.1155/2019/7615605.

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Background. Autosomal recessive hereditary spastic paraplegias (HSP) are a rare group of hereditary neurodegenerative disorders characterized by spasticity with or without other symptoms. SPG11 gene is the most common cause of autosomal recessive HSP. We report a case of autosomal recessive spastic paraplegia type 76 due to heterozygous variants of CAPN1 in an Argentinean subject. Case Presentation. A 38-year-old Argentinean female presented with progressive gait problems and instability of 15-year duration. Oculomotor abnormalities, ataxia, bradykinesia, cervical dystonia, and lower limb pyra

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Gillespie, Meredith K., Peter Humphreys, Hugh J. McMillan, and Kym M. Boycott. "Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST." Journal of Child Neurology 33, no. 5 (2018): 329–32. http://dx.doi.org/10.1177/0883073818756680.

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Hereditary spastic paraplegia is a phenotypically and genetically heterogeneous group of neurodegenerative disorders characterized by lower extremity weakness and spasticity. Spastic paraplegia 4 (SPG4), caused by heterozygous mutations in the gene SPAST, typically causes a late-onset, uncomplicated form of hereditary spastic paraplegia in affected individuals. Additional clinical features in SPG4 have been reported on occasion, but no genotype-phenotype correlation has been established. Through targeted clinical testing, we identified 2 unrelated female patients with the same de novo p.Arg499

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Murala, Sireesha, Elanagan Nagarajan, and Pradeep C. Bollu. "Hereditary spastic paraplegia." Neurological Sciences 42, no. 3 (2021): 883–94. http://dx.doi.org/10.1007/s10072-020-04981-7.

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Olmez, Akgun, and Haluk Topaloglu. "Hereditary spastic paraplegia." NATIONAL JOURNAL OF NEUROLOGY, no. 3 (January 7, 2019): 1–6. http://dx.doi.org/10.28942/nnj.v1i3.175.

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Historical note and nomenclature. Hereditary spastic paraplegia is the name given to a group of diseases that are heterogenous and inherited, in which the main clinical feature is progressive spasticity of the lower limbs. The original description of hereditary spastic paraplegia was made by Strümpell in 1880. He described “a pure spastic movement disorder of the legs” in 2 brothers who developed a spastic gait at the ages of 37 and 56 years. Their father was said to be “a little lame,” suggesting that the mode of inheritance might be autosomal dominant (Strumpell 1880). He later defined addit

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Dennis, Steven C., and Neil E. Green. "Hereditary Spastic Paraplegia." Journal of Pediatric Orthopaedics 8, no. 4 (1988): 413–17. http://dx.doi.org/10.1097/01241398-198807000-00006.

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19

Fink, John K. "Hereditary spastic paraplegia." Neurologic Clinics 20, no. 3 (2002): 711–26. http://dx.doi.org/10.1016/s0733-8619(02)00007-5.

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Anheim, Mathieu, Clotilde Lagier-Tourenne, Giovanni Stevanin, et al. "SPG11 spastic paraplegia." Journal of Neurology 256, no. 1 (2009): 104–8. http://dx.doi.org/10.1007/s00415-009-0083-3.

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21

Fink, John K. "Hereditary spastic paraplegia." Current Neurology and Neuroscience Reports 6, no. 1 (2006): 65–76. http://dx.doi.org/10.1007/s11910-996-0011-1.

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22

Fink, John K., and Shirley Rainier. "Hereditary Spastic Paraplegia." Archives of Neurology 61, no. 6 (2004): 830. http://dx.doi.org/10.1001/archneur.61.6.830.

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Orlacchio, Antonio, Toshitaka Kawarai, Antonio Totaro, et al. "Hereditary Spastic Paraplegia." Archives of Neurology 61, no. 6 (2004): 849. http://dx.doi.org/10.1001/archneur.61.6.849.

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24

Olmez, Akgun, and Haluk Topaloglu. "HEREDITARY SPASTIC PARAPLEGIA." National Journal of Neurology 1, no. 03 (2013): 13–17. http://dx.doi.org/10.61788/njn.v1i13.02.

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Shetty, Niharika, Sahana Devadas, and Mallesh Kariappa. "Hereditary spastic paraplegia-a differential for spastic paraplegia in children." International Journal of Contemporary Pediatrics 8, no. 1 (2020): 182. http://dx.doi.org/10.18203/2349-3291.ijcp20205526.

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Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders with familial origin mainly affecting the lower limbs. It has a prevalence of 3-10/100,000. The diagnosis is by symptomatology, clinical examination and neuroimaging to rule out other causes of spastic paraplegia. The diagnosis is confirmed by genetic analysis. Since this disorder is slowly progressive with nonspecific MRI brain findings the diagnosis can be delayed with delay in the start of rehabilitation measures. This disorder is usually diagnosed in the adult life and the literature has very few cases of paediat

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Omonova, U. T., N. A. Okiljonova, M. A. Shamsiddinova, A. A. Pak, and H. T. Rashidova. "CLINICAL AND MOLECULAR GENETIC ASPECTS OF STRÜMPEL'S HEREDITARY SPASTIC PARAPLEGIA IN UZBEKISTAN." National Journal of Neurology 2, no. 22 (2023): 28–34. http://dx.doi.org/10.61788/njn.v2i22.05.

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The research work is based on a prospective and retrospective observation of 95 patients with hereditary spastic paraplegia (HSP), who constituted the main group. Among the examined patients of the main group, there were 58 (61%) boys and 37 (39%) girls. The average age in the main group was 7.8±0.48 years. All patients complained of limb weakness of varying degrees, gait disturbance. The age gradation of the patients ranged from 2 years to 15 years. When studying the pedigrees of patients with HSP, in 34 cases the marriage was related, which amounted to 35.7%. It was found that in 48% of case

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Robbins, Nathaniel M., Jillian R. Ozmore, Thomas L. Winder, Pedro Gonzalez-Alegre, and Tanya M. Bardakjian. "A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia." Case Reports in Neurological Medicine 2020 (August 29, 2020): 1–3. http://dx.doi.org/10.1155/2020/7219514.

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Some causes of spastic paraplegia are treatable and many are not. Diagnostic work-up to determine the etiology can be costly and invasive. Here we report the case of a man with slowly progressive spastic paraparesis. Using a multigene next-generation sequencing (NGS) panel, we identified a novel variant in the consensus splice site of the SPAST gene (exon 13, c.1536G>A, heterozygous), affecting codon 512 of the SPAST mRNA. The observed variant segregated with the disease in four tested family members. In this case, genetic confirmation obviated the need for additional testing such as MRI an

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Le, Van Thuy, and Thanh Ha Phuong. "Hereditary Spastic Paraparesis Mimicking Primary Progressive Multiple Sclerosis Due to CYP7B1 Gene Mutation: A Case Report." Tạp chí thần kinh học Việt Nam, no. 42 (September 24, 2024): 70–73. http://dx.doi.org/10.62511/vjn.42.2024.032.

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The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. This report presents the a case of a 49-year-old female with spastic paraparesis, initially suspected to be primary progressive multiple sclerosis (PPMS). Genetic testing later identified two mutations in the CYP7B1 gene that was associated with the SPG5 form of HSP. This case highlights the challenge of distinguishing HSP from other chronic spinal cord diseases and emphasizes the role of genetic analysis in rare cases of spastic paraplegia.

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Gongati, Nissi Chrysolite, Vikas Agrawal, and Sonal Agrawal. "First SPG48 case report in India with a novel mutation." IP Indian Journal of Neurosciences 9, no. 1 (2023): 56–58. http://dx.doi.org/10.18231/j.ijn.2023.010.

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The hereditary spastic paraplegias (HSP) are a large group of inherited neurologic disorders that share the primary symptom of difficulty in walking due to weakness and spasticity in the lower limbs. Spastic paraplegia-48 (SPG48) is an autosomal recessive neurologic disorder characterized by spasticity of the lower limbs resulting in gait difficulties. Biallelic mutations in AP5Z1 are known to cause this complex form of hereditary spastic paraplegia (HSP) referred to as SPG48 (MIM#613647). Most patients have onset in mid- or late-adulthood, although childhood onset has been reported in 1 patie

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Cuchanski, Mathieu, and Kelly Jo Baldwin. "Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy." Case Reports in Neurology 10, no. 2 (2018): 165–68. http://dx.doi.org/10.1159/000490456.

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Hereditary spastic paraplegias (HSP) are a rare heterogeneous group of inherited neurodegenerative diseases characterized by progressive lower extremity spasticity and weakness. Mutations of the kinesin family member 5A (KIF5A) gene lead to a spectrum of phenotypes ranging from spastic paraplegia type 10 to Charcot-Marie Tooth Disease type 2. We report the second known case of a mutation in the KIF5A gene at c.610C>T presenting with HSP plus an axonal sensorimotor neuropathy.

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Adry, Rodrigo Antonio Rocha da Cruz, Catarina Cöuras Lins, Ramon de Almeida Kruschewsky, and Bernardo Galvão Castro Filho. "Comparison between the spastic paraplegia rating scale, Kurtzke scale, and Osame scale in the tropical spastic paraparesis/myelopathy associated with HTLV." Revista da Sociedade Brasileira de Medicina Tropical 45, no. 3 (2012): 309–12. http://dx.doi.org/10.1590/s0037-86822012000300006.

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INTRODUCTION:The objective of this study was to compare Osame's scale of motor incapacity and the expanded scale of the state of incapacity of Kurtzke with the spastic paraplegia rating scale for the clinical evaluation of patients with HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP). METHODS: Patients with the diagnosis of infection by HTLV-I/HTLV-II and with the clinical suspicion of HAM/TSP were included in the study. RESULTS: There were 45 patients who were evaluated. When analyzing the results of the scales, the researchers found the following averages of 21.08 points

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Mussa, S., S. Kakar, and G. Bentley. "Total Hip Arthroplasty for Late Hip Dislocation in Paraplegia." HIP International 12, no. 3 (2002): 338–41. http://dx.doi.org/10.1177/112070000201200310.

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Late hip dislocation is uncommon, particularly in the context of paraplegia. We report a case in which total hip arthroplasty with a semi-constrained acetabular component was a successful treatment for this condition. A review of the literature revealed that this method of treatment had not been previously described in paraplegics. For patients with late hip dislocation in spastic paraplegia, total hip arthroplasty with a semi-constrained acetabular component, combined with adequate adductor release and obturator neurectomy is recommended.

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Rossi, Salvatore, Anna Rubegni, Vittorio Riso, et al. "Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4." Neurology Genetics 8, no. 2 (2022): e664. http://dx.doi.org/10.1212/nxg.0000000000000664.

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Background and ObjectivesHereditary spastic paraplegias (HSPs) are a group of inherited rare neurologic disorders characterized by length-dependent degeneration of the corticospinal tracts and dorsal columns, whose prominent clinical feature is represented by spastic gait. Spastic paraplegia type 4 (SPG4, SPAST-HSP) is the most common form. We present both clinical and molecular findings of a large cohort of patients, with the aim of (1) defining the clinical spectrum of SPAST-HSP in Italy; (2) describing their molecular features; and (3) assessing genotype-phenotype correlations to identify f

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Høyer, Helle, Ola Nakken, and Trygve Holmøy. "A Novel SPAST Variant Associated with Isolated Spastic Paraplegia." Case Reports in Genetics 2023 (December 31, 2023): 1–5. http://dx.doi.org/10.1155/2023/4553365.

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Genetic variants in SPAST are the most common cause of hereditary spastic paraplegia (HSP), entitled spastic paraplegia type 4 (SPG4). Inheritance is autosomal dominant, and age of onset can vary from childhood to adulthood. Pathogenic SPAST variants are often observed in isolated cases, likely due to reduced penetrance and clinical variability. We report an isolated case of SPG4 associated with a novel likely pathogenic variant in SPAST. A 38-year-old woman presented with an eight-year history of progressive difficulty walking. Neurological examination revealed spastic paraparesis in the abse

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Ülkü, A., H. Karasoy, A. Karatepe, and F. Gökçay. "X-linked spastic paraplegia." Acta Neurologica Scandinavica 83, no. 6 (1991): 403–6. http://dx.doi.org/10.1111/j.1600-0404.1991.tb03972.x.

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Reid, E. "Pure hereditary spastic paraplegia." Journal of Medical Genetics 34, no. 6 (1997): 499–503. http://dx.doi.org/10.1136/jmg.34.6.499.

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Kumar, Kishore R., Franca Vulinovic, Katja Lohmann, et al. "Mutations inTUBB4Aand spastic paraplegia." Movement Disorders 30, no. 13 (2015): 1857–58. http://dx.doi.org/10.1002/mds.26444.

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Akaba, Yuichi, Ryo Takeguchi, Ryosuke Tanaka, and Satoru Takahashi. "A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST Gene." Case Reports in Neurology 13, no. 3 (2021): 763–71. http://dx.doi.org/10.1159/000520433.

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Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by degeneration of the corticospinal tract. Among the 79 causative genes involved in HSPs, variants in SPAST on chromosome 2p22, which encodes the microtubule-severing protein spastin, are responsible for spastic paraplegia type 4 (SPG4), the most common form of HSPs. SPG4 is characterized by a clinically pure phenotype that is associated with restricted involvement of the corticospinal tract; however, it is often accompanied by additional neurological symptoms such as epilepsy and cognitive impairment. There are few

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Wang, Yujuan. "Expression of recombinant mouse spastin in E. coli." E3S Web of Conferences 185 (2020): 04058. http://dx.doi.org/10.1051/e3sconf/202018504058.

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Mutations of the gene SPAST that encodes a microtubule severing enzyme, spastin, are the most frequent cause of Hereditary spastic paraplegia (HSP) disease. HSP is heterogeneous group of inherited neurodegenerative disorders characterized predominantly by progressive lower limb spasticity and weakness. Spastin belongs ATPase associated with various cellular activities (AAA) protein family and catalyzes microtubule severing. Spastin in mouse and human are highly identical in protein sequence and several spastin mutation models in mice have been generated in order to evaluate the significance of

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Kerstens, Hans C. J. W., Maarten J. Nijkrake, Bert J. M. De Swart, et al. "Online monitoring of focal spasticity treatment with botulinum toxin in people with chronic stroke or hereditary spastic paraplegia: a feasibility study." Journal of Rehabilitation Medicine 55 (April 19, 2023): jrm00383. http://dx.doi.org/10.2340/jrm.v55.6572.

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Objective: To investigate the feasibility and usability of an online spasticity monitoring tool amongst people with hereditary spastic paraplegia or chronic stroke receiving botulinum toxin treatment, and their healthcare providers.Methods: Mixed methods cohort study, measuring recruitment success and adherence to the monitoring in 3 rehabilitation institutions. In addition, the System Usability Scale (SUS) and interviews with patients and their healthcare providers were used for quantitative and qualitative analysis, respectively. A deductive directed content analysis was used for qualitative

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Bittmann, Stefan. "Autosomal Recessive Spastic Paraplegia Type 51 Caused by Homozygous Mutation of the AP4E1 Gene: A Case Report of a 17-Years-Old Boy." Asian Journal of Pediatric Research 14, no. 9 (2024): 10–14. http://dx.doi.org/10.9734/ajpr/2024/v14i9383.

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Autosomal recessive spastic paraplegia-51 (SPG51) is a rare neurodevelopmental disorder caused by a homozygous mutation in the AP4E1 gene, located on chromosome 15q21. Spastic paraplegia-51 (SPG51) is an extremely rare autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity. Mutations in the AP-4E1 gene on chromosome 15q21.2, which is part of the AP-4 complex, can lead to autosomal recessive spastic paraplegia 51 (SPG51). Different mutations in this gene have been identified in affected individuals, leading to disruption

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Yabe, I. "Spastin gene mutation in Japanese with hereditary spastic paraplegia." Journal of Medical Genetics 39, no. 8 (2002): 46e—46. http://dx.doi.org/10.1136/jmg.39.8.e46.

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Alber, Burkhard, Magdalena Pernauer, Annemarie Schwan, et al. "Spastin related hereditary spastic paraplegia with dysplastic corpus callosum." Journal of the Neurological Sciences 236, no. 1-2 (2005): 9–12. http://dx.doi.org/10.1016/j.jns.2005.03.040.

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de Freitas, Júlian Letícia, Flávio Moura Rezende Filho, Juliana M. F. Sallum, Marcondes Cavalcante França, José Luiz Pedroso, and Orlando G. P. Barsottini. "Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia." Journal of the Neurological Sciences 409 (February 2020): 116620. http://dx.doi.org/10.1016/j.jns.2019.116620.

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Koh, Kishin, Hiroyuki Ishiura, Shoji Tsuji, and Yoshihisa Takiyama. "JASPAC: Japan Spastic Paraplegia Research Consortium." Brain Sciences 8, no. 8 (2018): 153. http://dx.doi.org/10.3390/brainsci8080153.

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Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by weakness and spasticity of the lower extremities. HSPs are heterogeneous disorders that involve over 80 causative genes. The frequency of HSPs is estimated to be 10–100/1,000,000. With this background, the Japanese research group “Japan Spastic Paraplegia Research Consortium: JASPAC” was organized in 2006 to elucidate the molecular epidemiologies of HSPs in Japan and the molecular pathologies of HSPs. To date, the JASPAC has collected 714 HSP families and analyzed 488 index patients. We found 279

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Sardina, Francesca, Alessandra Pisciottani, Manuela Ferrara, et al. "Spastin recovery in hereditary spastic paraplegia by preventing neddylation-dependent degradation." Life Science Alliance 3, no. 12 (2020): e202000799. http://dx.doi.org/10.26508/lsa.202000799.

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Hereditary Spastic Paraplegia (HSP) is a neurodegenerative disease most commonly caused by autosomal dominant mutations in the SPG4 gene encoding the microtubule-severing protein spastin. We hypothesise that SPG4-HSP is attributable to reduced spastin function because of haploinsufficiency; thus, therapeutic approaches which elevate levels of the wild-type spastin allele may be an effective therapy. However, until now, how spastin levels are regulated is largely unknown. Here, we show that the kinase HIPK2 regulates spastin protein levels in proliferating cells, in differentiated neurons and i

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Nadaf, Swaleha Nurulla, Rahul T. Chakor, and Ramishetty Sandeep. "A case series of heriditary spastic paraplegia." Panacea Journal of Medical Sciences 15, no. 1 (2025): 248–55. https://doi.org/10.18231/pjms.v.15.i.1.248-255.

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Hereditary spastic paraplegia is a spectrum of disorders with progressive spasticity of lower limbs with clinical and genetic heterogeneity. Harding classified HSP into pure and complicated forms. Currently classification is largely based on genetics. Around 87 genetic loci were identified till date. We have studied 44 patients presented with spastic ataxia with or without additional neurologic or non-neurological features from February 2021 to February 2024. Out of 44 spastic ataxia cases studied over period of 3 years, 17 patients were positive for SPG genes with 21 variants detected by NGS

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Dudipala, Sai Chandar, Naveen Reddy Cheruku, and Krishna Chaithanya Battu. "Hereditary spastic paraplegia associated with a rare endoplasmic reticulum lipid raft-associated protein 2 mutation." International Journal of Contemporary Pediatrics 7, no. 10 (2020): 2077. http://dx.doi.org/10.18203/2349-3291.ijcp20204055.

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Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurological disorders that are characterized by progressive spasticity of the lower extremities. It can present as pure form or complex form. It can be present from infancy to adulthood, but majority in adult population. Childhood onset HSP must be differentiated from common conditions like cerebral palsy, neurodegenerative disorders and metabolic disorders. Many patients with pediatric HSP are mistakenly diagnosed with cerebral palsy. In children with spastic paraplegia in whom no acquired cause identi

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Gourie-Devi, M. "Enigma of tropical spastic paraplegia." Neurology India 68, no. 2 (2020): 268. http://dx.doi.org/10.4103/0028-3886.284367.

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Pridmore, Saxby, Gyaneshwar Rao, and Prosper Abusah. "Hereditary Spastic Paraplegia with Dementia." Australian & New Zealand Journal of Psychiatry 29, no. 4 (1995): 678–82. http://dx.doi.org/10.3109/00048679509064985.

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Objective: Hereditary spastic paraplegia (HSP) with dementia is a very rare condition. The aim of the paper is to present the first report of HSP in a Fijian Indian family. Method: A psychiatrist and a general physician examined the affected members of the family on five occasions over three years. Results: There are three affected individuals In a sibship of seven. The parents are without symptoms and the marriage is non-consanguineous. The course of the disease has been remarkably similar. All subjects were healthy and performing well in the early years of school. In two, symptoms of cogniti

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