Results 61 to 70 of about 14,731 (217)

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, Volume 109, Issue 5, Page 837-846, May 2026.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology
Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
doaj   +1 more source

Anti-HTLV antibody profiling reveals an antibody signature for HTLV-I-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP) [PDF]

, 2008
Background HTLV-I is the causal agent of adult T cell leukemia (ATLL) and HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP). Biomarkers are needed to diagnose and/or predict patients who are at risk for HAM/TSP or ATLL.
Peter D Burbelo, Elise Meoli, Hannah P Leahy, Jhanelle Graham, Karen Yao, Unsong Oh, John E Janik, Renaud Mahieux, Fatah Kashanchi, Michael J Iadarola, Steven Jacobson   +10 more
core   +2 more sources

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, Volume 13, Issue 4, Page 834-839, April 2026.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

HTLV-1 and HIV-1 co-infection: A case report and review of the literature

IDCases, 2016
HTLV type 1 and 2 are both involved in actively spreading epidemics, affecting over 15 million people worldwide. HTLV-1 has been described as the more clinically significant one, being associated with diseases such as adult T-cell leukemia and tropical ...
Carmen Isache, Michael Sands, Nilmarie Guzman, Danisha Figueroa   +3 more
doaj   +1 more source

Metabolic Diseases: a differential diagnosis of primary progressive multiple sclerosis [PDF]

, 2019
Objectives: The overall aim of our research project is to develop a Next Generation Sequencing strategy to identify metabolic disorders in 104 patients with a presumptive diagnosis of primary progressive MS.We would like to thank to MERCK, SA and ...
Macário, Maria do Carmo, Nogueira, Célia, Ribeiro, Diogo, Silva, Ana, Sá, Maria José, Vilarinho, Laura   +5 more
core  

Prevalence and risk factors for Human T-Lymphotropic Virus Type 1 (HTLV-1) among maintenance hemodialysis patients [PDF]

, 2017
BACKGROUND: Infection with the human T-cell lymphotropic virus type 1 (HTLV-1), although asymptomatic in most cases, can lead to potentially grave consequences, such as adult T-cell leukemia-lymphoma and HTLV-1-associated myelopathy / tropical spastic ...
Angiolina Kraychete, Antonio Alberto Lopes, Edgar M. Carvalho, Gildásio C. Conceição, Maria A. C. Penalva, Márcia S. Martins, Paulo Novis Rocha, Rilma F. S. Santos   +7 more
core   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 929-936, April 2026.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Aicardi‐Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant‐Negative Effect of the ADAR1 c.3019G>A Variant

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Aicardi–Goutières syndrome type 6 (AGS6) is a genetically determined autoinflammatory disorder, classically inherited in an autosomal recessive manner. We report a Czech child with a heterozygous ADAR1 NM_001111.5:c.3019G>A variant causing AGS6.
Katerina Turan, Petra Pokorna, Kamila Rihova, Jana Kubatova, Katerina Kozelkova, Eliska Hlouskova, Pavlina Danhofer, Petr Jabandziev, Jiri Damborsky, Regina Demlova, Ondrej Slaby, Katerina Slaba   +11 more
wiley   +1 more source

Efgartigimod Combined With Steroid Treatment for HAM/TSP: A Case Report

Annals of Clinical and Translational Neurology
HTLV‐1‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive neurological disorder with limited treatment options. We report a 54‐year‐old female with decade‐long, progressive HAM/TSP, previously refractory to rituximab, who ...
Jiahui Zeng, Wotu Tian, Jingran Yang, Yanping Yang, Li Cao, Xinghua Luan   +5 more
doaj   +1 more source