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Hereditary Spastic Paraplegia: An Update [PDF]

International Journal of Molecular Sciences, 2022
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised based on inheritance, the phenotypic characters, and the mode of molecular pathophysiology, with frequent degeneration in the axon of cervical and thoracic spinal cord’s lateral ...
Antonio Orlacchio
exaly   +4 more sources

Clinical characteristics and gene mutation analysis of a family with hereditary spastic paraplegia type 11: a case report [PDF]

Journal of Medical Case Reports
Background Autosomal recessive hereditary spastic paraplegia with thinning of the corpus callosum is a complex hereditary spastic paraplegia. Spastic paraplegia type 11 (SPG11) mutation is the most frequent form of autosomal recessive hereditary spastic ...
Aidi Luo, Zhong Luo, Zucai Xu, Shusheng Liao   +3 more
doaj   +2 more sources

Health‐Related Quality of Life in Rare Forms of Childhood‐Onset Hereditary Spastic Paraplegia [PDF]

Annals of Clinical and Translational Neurology
We assessed health‐related quality of life (HRQoL) in 80 children with rare hereditary spastic paraplegias using the Caregiver Priorities and Child Health Index of Life with Disabilities and clinician‐reported outcomes.
Henri J. D. Schmidt, Nicole Battaglia, Joshua Rong, Amy Tam, Siofra Carty, Vicente Quiroz, Kathryn Yang, Zainab Zaman, Luca Schierbaum, Katerina Bernardi, Julian E. Alecu, Darius Ebrahimi‐Fakhari   +11 more
doaj   +2 more sources

Identification of myokymia in adult-onset hereditary spastic paraplegia type 79A: Implications for the phenotypic spectrum [PDF]

eNeurologicalSci
Spastic paraplegia type 79 (SPG79) is a rare form of hereditary spastic paraplegia caused by variants in ubiquitin C-terminal hydrolase L1 (UCHL1).
Natsumi Toyoda, Hiroyasu Komiya, Yosuke Miyaji, Shuhei Nishihama, Mutsuki Takeda, Tetsuya Asano, Shunta Hashiguchi, Keita Takahashi, Yuichi Higashiyama, Atsushi Fujita, Naomichi Matsumoto, Hiroshi Doi, Fumiaki Tanaka   +12 more
doaj   +2 more sources

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, 2023
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.
Hans C. J. W. Kerstens, Maarten J. Nijkrake, Bert J. M. de Swart, Ria W. G. Nijhuis-van der Sanden, Marije Vos-van de Hulst, Gery J. Bos, Alexander C. H. Geurts, Philip J. van der Wees   +7 more
doaj   +1 more source

Balance rehabilitation with a virtual reality protocol for patients with hereditary spastic paraplegia: Protocol for a clinical trial.

PLoS ONE, 2021
BackgroundNeurodegenerative diseases are sporadic hereditary conditions characterized by progressive dysfunction of the nervous system. Among the symptoms, vestibulopathy is one of the causes of discomfort and a decrease in quality of life.
Bianca Simone Zeigelboim, Maria Renata José, Geslaine Janaina Bueno Dos Santos, Maria Izabel Rodrigues Severiano, Hélio Afonso Ghizoni Teive, José Stechman-Neto, Rosane Sampaio Santos, Cristiano Miranda de Araújo, Bianca Lopes Cavalcante-Leão   +8 more
doaj   +1 more source

Multimodal MRI-based study in patients with SPG4 mutations. [PDF]

PLoS ONE, 2015
Mutations in the SPG4 gene (SPG4-HSP) are the most frequent cause of hereditary spastic paraplegia, but the extent of the neurodegeneration related to the disease is not yet known.
Thiago J R Rezende, Milena de Albuquerque, Gustavo M Lamas, Alberto R M Martinez, Brunno M Campos, Raphael F Casseb, Cynthia B Silva, Lucas M T Branco, Anelyssa D'Abreu, Iscia Lopes-Cendes, Fernando Cendes, Marcondes C França   +11 more
doaj   +1 more source

In silico computation of functional SNPs of CYP2U1 protein leading to hereditary spastic paraplegia

Informatics in Medicine Unlocked, 2021
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.
Ammara Akhtar, Sobia Nazir Ch, Mureed Hussain   +2 more
doaj   +1 more source

Hereditary spastic paraplegia

Neurological Sciences, 2021
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders which involve the corticospinal tracts and present with distinct spasticity and weakness of the lower extremities. The estimated prevalence of HSP is around 1.8/100,000 cases for both autosomal dominant and autosomal recessive types.
Sireesha Murala, Elanagan Nagarajan, Pradeep C. Bollu   +2 more
openaire   +3 more sources

Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia

Annals of Clinical and Translational Neurology, 2021
Objective Despite the need for diagnostics and research, data on fluid biomarkers in hereditary spastic paraplegia (HSP) are scarce. We, therefore, explore Neurofilament light chain (NfL) levels in cerebrospinal fluid (CSF) of patients with hereditary ...
Christoph Kessler, Lina M. Serna‐Higuita, Tim W. Rattay, Walter Maetzler, Isabel Wurster, Stefanie Hayer, Carlo Wilke, Holger Hengel, Jennifer Reichbauer, Marcel Armbruster, Ludger Schöls, Peter Martus, Rebecca Schüle   +12 more
doaj   +1 more source