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Articles 31 - 33 of 33
Full-Text Articles in Medicine and Health Sciences
Atypical Ataxia Presentation In Variant Ataxia Telangiectasia: Iranian Case-Series And Review Of The Literature, Tannaz Moeini Shad, Reza Yazdani, Parisa Amirifar, Samaneh Delavari, Marzieh Heidarzadeh Arani, Seyed Alireza Mahdaviani, Mahnaz Sadeghi-Shabestari, Asghar Aghamohammadi, Nima Rezaei, Hassan Abolhassani
Atypical Ataxia Presentation In Variant Ataxia Telangiectasia: Iranian Case-Series And Review Of The Literature, Tannaz Moeini Shad, Reza Yazdani, Parisa Amirifar, Samaneh Delavari, Marzieh Heidarzadeh Arani, Seyed Alireza Mahdaviani, Mahnaz Sadeghi-Shabestari, Asghar Aghamohammadi, Nima Rezaei, Hassan Abolhassani
Department of Neurology Faculty Papers
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem disorder. A minority of AT patients can present late-onset atypical presentations due to unknown mechanisms. The demographic, clinical, immunological and genetic data were collected by direct interview and examining the Iranian AT patients with late-onset manifestations. We also conducted a systematic literature review for reported atypical AT patients. We identified three Iranian AT patients (3/249, 1.2% of total registry) with later age at ataxia onset and slower neurologic progression despite elevated alpha-fetoprotein levels, history of respiratory infections, and immunological features of the syndrome. Of note, all patients developed autoimmunity in which …
Care Gaps And Recommendations In Vestibular Migraine: An Expert Panel Summit, Monica P Mallampalli, Habib G Rizk, Amir Kheradmand, Shin C Beh, Mehdi Abouzari, Alaina M Bassett, James Buskirk, Claire E J Ceriani, Matthew G Crowson, Hamid Djalilian, Joel A Goebel, Jeffery J Kuhn, Anne E Luebke, Marco Mandalà, Magdalena Nowaczewska, Nicole Spare, Roberto Teggi, Maurizio Versino, Hsiangkuo Yuan, Ashley Zaleski-King, Michael Teixido, Frederick Godley
Care Gaps And Recommendations In Vestibular Migraine: An Expert Panel Summit, Monica P Mallampalli, Habib G Rizk, Amir Kheradmand, Shin C Beh, Mehdi Abouzari, Alaina M Bassett, James Buskirk, Claire E J Ceriani, Matthew G Crowson, Hamid Djalilian, Joel A Goebel, Jeffery J Kuhn, Anne E Luebke, Marco Mandalà, Magdalena Nowaczewska, Nicole Spare, Roberto Teggi, Maurizio Versino, Hsiangkuo Yuan, Ashley Zaleski-King, Michael Teixido, Frederick Godley
Department of Neurology Faculty Papers
Vestibular migraine (VM) is an increasingly recognized pathology yet remains as an underdiagnosed cause of vestibular disorders. While current diagnostic criteria are codified in the 2012 Barany Society document and included in the third edition of the international classification of headache disorders, the pathophysiology of this disorder is still elusive. The Association for Migraine Disorders hosted a multidisciplinary, international expert workshop in October 2020 and identified seven current care gaps that the scientific community needs to resolve, including a better understanding of the range of symptoms and phenotypes of VM, the lack of a diagnostic marker, a better understanding of …
Krabbe Disease: A Personal Perspective And Hypothesis, Mohammad Rafi
Krabbe Disease: A Personal Perspective And Hypothesis, Mohammad Rafi
Department of Neurology Faculty Papers
Introduction: Krabbe disease (KD) or globoid cell leukodystrophy (GLD) is one of the lysosomal disorders affecting central and peripheral nervous systems (CNS and PNS). It is caused by mutations on the galactocerebrosidase (GALC) gene. Affected individuals accumulate undegraded substrates and suffer from neuroinflammation. Methods: Hematopoietic stem cell transplantation (HSCT) has been partially successful in treating patients with KD when accomplished prior to the onset of symptoms. The success is credited to the ability of the hematopoietic stem cells in providing some GALC enzyme to the CNS and eradicating potential neuroinflammation. Combination of the HSCT with some other GALC-providing strategies has …