Results 71 to 80 of about 21,283 (267)

FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications [PDF]

, 2019
The endoplasmic reticulum enzyme fatty acid 2-hydroxylase (FA2H) plays a major role in the formation of 2-hydroxy glycosphingolipids, main components of myelin. FA2H deficiency in mice leads to severe central demyelination and axon loss. In humans it has
Auer-Grumbach, M, Baets, J, Bassi, MT, Bauer, P, D'Angelo, MG, De Bleecker, Jan, De Jonghe, P, Debyser, M, Deconinck, T, Döbler-Neumann, M, Eckstein, KN, Giese, AK, Hörtnagel, K, Janauschek, M, Krägeloh-Mann, I, Lindig, T, Lopez de Munain, A, Münchau, A, Ortibus, E, Plecko, B, Pujol, A, Rattay, TW, Reichbauer, J, Schöls, L, Schüle, R, Smets, K, Söhn, AS, Wiethoff, S, Wilken, B, Züchner, S   +29 more
core   +1 more source

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

Annals of Clinical and Translational Neurology, EarlyView.
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

Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia

Current Neurology and Neuroscience Reports, 2021
The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. We address the challenges and controversies involved in the genetic diagnosis of HSP.
L. Saputra, K. Kumar
semanticscholar   +1 more source

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management

SAGE Open Medicine
Hereditary spastic paraplegia is a genetically heterogeneous neurodegenerative disorder characterised primarily by muscle stiffness in the lower limbs. Neurodegenerative disorders are conditions that result from cellular and metabolic abnormalities, many
Wireko Andrew Awuah, Joecelyn Kirani Tan, Anastasiia D Shkodina, Tomas Ferreira, Favour Tope Adebusoye, Adele Mazzoleni, Jack Wellington, Lian David, Ellie Chilcott, Helen Huang, Toufik Abdul-Rahman, Vallabh Shet, Oday Atallah, Jacob Kalmanovich, Riaz Jiffry, Divine Elizabeth Madhu, Kateryna Sikora, Oleksii Kmyta, Mykhailo Yu Delva   +18 more
doaj   +1 more source

Alsin Related Disorders: Literature Review and Case Study with Novel Mutations

Case Reports in Genetics, 2014
Mutations in the ALS2 gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral sclerosis.
Filipa Flor-de-Lima, Mafalda Sampaio, Nahid Nahavandi, Susana Fernandes, Miguel Leão   +4 more
doaj   +1 more source

Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations

Stem Cell Research, 2022
Hereditary spastic paraplegia 56 (SPG56) is an extremely rare autosomal recessive disorder caused by mutations in the CYP2U1 gene, involved in fatty acid metabolism.
Hannah C. Leeson, Denise Goh, David Coman, Ernst J. Wolvetang   +3 more
doaj   +1 more source

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 [PDF]

, 2019
Objective : We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 (SPG7).
Anheim, M, Baets, J, Banneau, G, Bassi, MT, Brice, A, Charles, P, Coarelli, G, D'Angelo, MG, D'Hooghe, M, Davoine, CS, De Bleecker, Jan, De Jonghe, P, Deconinck, T, Durr, A, Duyckaerts, C, Ewenczyk, C, Fontaine, B, Hamer, EG, Kamm, C, Klockgether, T, Klopstock, T, Kurzwelly, D, Martinuzzi, A, Masrori, P, Migeotte, I, Mochel, F, Monin, ML, Ollagnon-Roman, E, Papin, M, Schule, R, Schöls, L, Seilhean, D, Stevanin, G, Synofzik, M, Tezenas du Montcel, S, van de Warrenburg, BPC   +35 more
core   +1 more source

Unilateral Ankle‐Foot Exoneuromusculoskeleton with Balance‐Sensing Feedback for Self‐Help Telerehabilitation after Stroke

Advanced Robotics Research, EarlyView.
This study introduces a hybrid robot that integrates mechanical assistance by musculoskeletons (i.e., soft pneumatic muscle with rigid exoskeletal extensions), neuromuscular electrical stimulation, and vibrotactile feedback in a lightweight wearable mechatronic complex applicable to the paretic ankle–foot poststroke for gait restoration. The system can
Fuqiang Ye, Wei Rong, Waiming Li, Kwok‐Ting Wong, Man‐Kit Pang, Hon‐Wah Wai, Lilly Li, Zicong Hong, Song Guo, Zong‐Hao Ma, Yongping Zheng, Ming Zhang, Nicholas Chow, Jianing Zhang, Xiaoling Hu, Fei Chen, Waisang Poon   +16 more
wiley   +1 more source

Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum

Frontiers in Integrative Neuroscience, 2023
A 24-year-old man presented with insidious onset progressive gait disturbance and was finally diagnosed with autosomal recessive hereditary spastic paraplegia. Two novel mutations, including a frameshift mutation (c.5687_5691del) and a non-sense mutation
Ji-Qing Duan, Hui Liu, Jia-Qiao Wu
doaj   +1 more source

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. [PDF]

, 2007
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed
AZZEDINE H, BERTINI E, BOUSLAM N, BRICE A., CHARLES P, CHOMILIER J, CONFAVREUX C, COUTINHO P, CRUZ VT, DENORA PS, DURR A, ELLEUCH N, FILLA, ALESSANDRO, FONTAINE B, GRID D, LEGUERN E, LOSSOS A, LOUREIRO, JL, MARTIN E, OUVRARD HERNANDEZ AM, RUBERG M, SANTORELLI FM, STEVANIN G, TAZIR M, TESSA A   +24 more
core