Results 21 to 30 of about 70,828 (231)

RNASEH2B Pathogenic Mutation Presenting with Pure, Apparently Non-Progressive Hereditary Spastic Paraparesis. [PDF]

Ann Indian Acad Neurol, 2023
Agarwal A, Garg D, Garg A, Srivastava AK.   +3 more
europepmc   +2 more sources

Recanalized Paraumbilical Vein Leading to Hepatic Myelopathy Causing Spastic Paraparesis in a Patient with Chronic Liver Disease. [PDF]

J Clin Exp Hepatol, 2023
Mundhra S, Mohta S, Gamanagatti S, Sharma S, Hemachandran N, Saraya A.   +5 more
europepmc   +3 more sources

Gut Microbiome Dysbiosis is Associated With Human T-Lymphotropic Virus Type 1 (HTLV-1) Infection and Disease Progression to HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis: A Cross-Sectional Study. [PDF]

Smart Med
We provide the first comprehensive analysis of changes in the gut bacteriome at different clinical stages of HTLV‐1 infection. HTLV‐1 infection is associated with a dysbiosis that includes reduced bacterial diversity and an inverted Firmicutes/Bacteroidetes ratio.
Fernandes LA, de Souza AO, Nukui Y, Marcusso RM, de Oliveira ACP, Casseb J, Clissa PB, Villas-Boas SG, Sanabani SS.   +8 more
europepmc   +2 more sources

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain. [PDF]

Eur J Neurol
Clinical exome sequencing (CES) was performed on 108 Spanish patients with suspected hereditary spastic paraparesis (HSP), using a virtual 129‐gene panel and HPO‐based variant filtering. A molecular diagnosis was achieved in 53% of cases, with 21 causative genes identified (8 novel variants), SPAST (AD) and SPG7 (AR) being the most frequent genetic ...
Carretero-Vilarroig L, Sivera R, Baviera R, Espinós C, Muelas N, Vazquez-Costa JF, Aller E, Bataller L, Jaijo T.   +8 more
europepmc   +2 more sources

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature. [PDF]

Neurogenetics
Cioffi E, Coppola G, Musumeci O, Gallone S, Silvestri G, Rossi S, Piemonte F, D'Amico J, Tessa A, Santorelli FM, Casali C.   +10 more
europepmc   +3 more sources

Magnetic resonance imaging for Human T-cell lymphotropic virus type 1 (HTLV1-) associated myelopathy/tropical spastic paraparesis patients: a systematic review [PDF]

Reviews in Clinical Medicine, 2015
Introduction: Human T-cell lymphotropic virus type 1 (HTLV-1) associated myelopathy/tropical spastic paraparesis is a chronic progressive neurologic disease which might be associated by brain and spinal cord atrophy and lesions.
Fariba Zemorshidi, Reza Boostani, Mohammad Mehdi Etemadi   +2 more
doaj   +3 more sources

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients

Neurological Sciences, 2021
Mutations in POLR3A are characterized by high phenotypic heterogeneity, with manifestations ranging from severe childhood-onset hypomyelinating leukodystrophic syndromes to milder and later-onset gait disorders with central hypomyelination, with or ...
I. Di Donato, A. Gallo, I. Ricca, N. Fini, G. Silvestri, F. Gurrieri, M. Cirillo, A. Cerase, G. Natale, Federica Matrone, V. Riso, M. Melone, A. Tessa, Giovanna De Michele, A. Federico, A. Filla, M. Dotti, F. Santorelli   +17 more
semanticscholar   +1 more source

Intravesical injection of onabotulinumtoxinA in neurogenic overactive bladder patients with human T‐cell leukemia virus type 1‐associated myelopathy: A single‐institution case series

IJU Case Reports, 2021
Introduction Neurogenic overactive bladder is a main feature of human T‐cell leukemia virus type 1‐associated myelopathy/tropical spastic paraparesis. We successfully performed intravesical onabotulinumtoxinA therapy for refractory neurogenic overactive ...
Tomohiro Matsuo, Tatsufumi Nakamura, Katsuya Sato, Yasuyoshi Miyata, Hideki Sakai   +4 more
doaj   +1 more source

Neurological manifestations in individuals with HTLV-1-associated myelopathy/tropical spastic paraparesis in the Amazon [PDF]

Spinal Cord, 2015
G A S Dias, Gilberto Toshimitsu Yoshikawa, Roberta Vilela Lopes Koyama, Satomi Fujihara, Leandra Martins, Rita Medeiros, Juarez Antônio Simões Quaresma, Hellen Thaís Fuzii   +7 more
openalex   +2 more sources

An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome

Case Reports in Neurology, 2020
DiGeorge syndrome (22q11.2 deletion) is associated with several neurologic disorders including structural abnormalities involving brain and spine, movement disorders, and epilepsy.
Roshni Dhoot, Katelyn Payne, John K. Fink, Robert M. Pascuzzi   +3 more
doaj   +1 more source