Results 41 to 50 of about 141,668 (299)

Variability in the Results of Vestibular Assessment in Patients with Genetically Confirmed Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

, 2023
20.500.12530/87912BACKGROUND: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) presents an unpredictable and uneven clinical development of cerebellar ataxia, neuropathy, and vestibular areflexia.
Alfredo García-Fernández, Vergas-Gutiérrez, Joaquín Jesús De, María Fernandez-Rueda, Fernandez-Rueda, Maria, Jesus De Vergas-Gutierrez, Joaquin, Joaquín Jesús De Vergas-Gutiérrez, Garcia-Fernandez, Alfredo   +6 more
core   +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

Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life [PDF]

, 2007
Friedreich ataxia (FRDA) patients are homozygous for expanded GAA triplet-repeat alleles in the FXN gene. Primary neurodegeneration involving the dorsal root ganglia (DRG) results in progressive ataxia.
Ramussen, A, De Biase, Irene, Monticelli, A, Bidichandani, Sanjay I., De Biase, I, Al-Mahdawi, S, Pook, Mark, Cocozza, S, Al-Mahdawi, Sahar, Pook, M A, Bidichandani, S, Monticelli, Antonella, Rasmussen, Astrid, Cardone MF, RASMUSSEN A, D'ADDABBO, PIETRO, Teti MG, POOK M, Misceo D, MONTICELLI A, ARCHIDIACONO, Nicoletta, VENTURA, MARIO, BIDICHANDANI SI, ROCCHI, Mariano, COCOZZA, SERGIO, Capozzi O, Lomiento M, DE BIASE I, AL MAHDAWI S, Roberto R   +29 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

BMC Medical Genetics, 2020
Background The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive
Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami   +8 more
doaj   +1 more source

Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model [PDF]

, 2011
NOTICE: this is the author’s version of a work that was accepted for publication in Neurobiology of Disease. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control ...
Ezzatizadeh, V, Rusche, James R., Steve Jones, James R. Rusche, Gottesfeld, Joel M., Jones, S, Sandi, C, Barnes, Glenn, Joel M. Gottesfeld, Pook, MA, Pinto, RM, Al-Mahdawi, Sahar, Chiranjeevi Sandi, Sandi, Chiranjeevi, Barnes, G, Mark A. Pook, Pinto, Ricardo Mouro, Al-Mahdawi, S, Jones, Steve, Pook, Mark A., Vahid Ezzatizadeh, Ezzatizadeh, Vahid, Sahar Al-Mahdawi, Rusche, JR, Ricardo Mouro Pinto, Gottesfeld, JM, Glenn Barnes   +26 more
core   +1 more source

Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report

BMC Medical Genomics, 2023
Background Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected individuals display psychomotor retardation, cerebellar dysfunction, nystagmus, intention tremor, ataxic ...
Elham Salehi Siavashani, Mahmoud Reza Ashrafi, Homa Ghabeli, Morteza Heidari, Masoud Garshasbi   +4 more
doaj   +1 more source

CONGENITAL CEREBELLAR ATAXIA [PDF]

The Journal of Nervous and Mental Disease, 1915
n ...
openaire   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source