Results 41 to 50 of about 132,494 (221)

Bilateral Shoulder Osteoarthritis After COVID-19 in a Patient with Hereditary Spastic Paraplegia: A Case Report [PDF]

The study, the first to report such a relationship to date, presents a patient with accelerated osteoarthritis (OA) in weight-bearing shoulder joints after Coronavirus disease-2019 (COVID-19).
Hilal Devran, Burcu Sevingül, Özgür Zeliha Karaahmet, Yasemin Tombak, Şeyma Alkan   +4 more
core   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon, Dana Olofson, Diana Anissian, Divyanshu Dubey, Eoin P. Flanagan, Max C. Herman, Sarosh R. Irani, Daniel H. Lachance, Maria A. Willrich, Sean Pittock, John R. Mills, Anastasia Zekeridou   +11 more
wiley   +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

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. [PDF]

PLoS ONE, 2017
Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed.
Zafar Iqbal, Siri L Rydning, Iselin M Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H Rengmark, Sandra P Henriksen, Chantal M E Tallaksen, Mathias Toft   +8 more
doaj   +1 more source

Clinical and pathogenic themes in hereditary spastic paraplegia [PDF]

, 2020
This scientific commentary refers to ‘Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia’, by Ebrahimi-Fakhari etal. (doi:10.1093/brain/awz307)
Warner, TT
core   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Hereditary spastic paraplegia: clinical observations

, 2019
У статті наведені приклади власного клінічного спостереження двох випадків спорадичної спадкової спастичної параплегії. Обговорюються клінічні та діагностичні критерії даної патології.
Verevka, H. A., Силенко, Галина Ярославовна, Силенко, Галина Ярославівна, Вірьовка, О. А., Пінчук, Вікторія Анатоліївна, Кривчун, Анжелина Михайловна, Веревка, Елена Анатольевна, Пинчук, Виктория Анатольевна, Кривчун, Анжеліна Михайлівна, Pinchuk, V. V., Pinchuk, V. A., Пинчук, Валерия Владимировна, Sylenko, H. Ya., Пінчук, Валерія Володимирівна, Kryvchun, A. M.   +14 more
core   +1 more source

Neuropathology: Many Paths Lead to Hereditary Spastic Paraplegia [PDF]

, 2004
Studies with animal models are providing new insights into the pathology of hereditary spastic paraplegia, particularly how mutations in multiple, converging pathways can lead to this family of ...
Gould, Robert M., Brady, Scott T.
core   +1 more source

X-Linked Spastic Paraplegia

, 1991
This paper describes a family with 10 males affected by x-linked spastic paraplegia. X-linked inheritance is rarely encountered in pure and complicated forms of hereditary spastic paraplegia.
Karatepe, A, Karasoy, H, Ulku, A, Gokcay, F   +3 more
core   +2 more sources