Results 1 to 10 of about 16,402 (224)

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   +3 more sources

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   +2 more sources

Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN) Avaliação motora e funcional de pacientes com paraplegia espástica, atrofia óptica e neuropatia (SPOAN) [PDF]

Arquivos de Neuro-Psiquiatria, 2010
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 ...
Zodja Graciani, Silvana Santos, Lucia Inês Macedo-Souza, Carlos Bandeira de Mello Monteiro, Maria Isabel Veras, Simone Amorim, Mayana Zatz, Fernando Kok   +7 more
doaj   +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

A rare case of hereditary spastic paraplegia: Case report [PDF]

Radiology Case Reports
Hereditary spastic paraplegias represent a rare set of monogenic disorders encompassing 79 distinct genetic variations. The principal culprit behind recessive hereditary spastic paraplegia is frequently attributed to mutations in the spastic paraplegia ...
Aymane Bijbij, MD, Adib Remmal, MD, Habib Bellamlih, PhD, Taoufik Africha, PhD, Soufiane Belabbes, Phd, Brahim Zainoun, PhD   +5 more
doaj   +2 more sources

Expanding molecular and clinical spectrum of CPT1C‐associated hereditary spastic paraplegia (SPG73)—a case series [PDF]

Annals of Clinical and Translational Neurology
Autosomal‐dominant variants in the CPT1C gene have been associated with hereditary spastic paraplegia type 73 (SPG73), which typically presents with slowly progressive lower limb weakness and spasticity and is therefore considered a pure form of ...
Alexandra K. Brooks, Vicente Quiroz, Luca Schierbaum, Amy Tam, Julian E. Alecu, Darius Ebrahimi‐Fakhari   +5 more
doaj   +2 more sources

Finite Element-Based Biomechanical Evaluation of Patient-Specific Insoles for a Pediatric Patient with Hereditary Spastic Paraplegia Using the Taguchi Method. [PDF]

Bioengineering (Basel)
Alsaleh DM, Bilgili F, Bayraktar M, Arslan YZ.   +3 more
europepmc   +2 more sources

SPG10 is a rare cause of spastic paraplegia in European families [PDF]

, 2008
Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport.
Auer-Grumbach, M., Boesch, S., Kassubek, J., Klimpe, S., Klopstock, Thomas, Kostic, V., Kremer, B.P.H., Otto, S., Schöls, L., Schüle, R., van de Warrenburg, B.P.   +10 more
core   +10 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