Results 41 to 50 of about 1,070 (114)

Wernicke Encephalopathy in a Child With Acute Lymphoblastic Leukemia: A Case Report

Cancer Reports, Volume 8, Issue 6, June 2025.
ABSTRACT Background Wernicke encephalopathy (WE) is a life‐threatening neurological disorder caused by thiamine deficiency, commonly associated with alcoholism but also observed in malnourished pediatric cancer patients undergoing intensive chemotherapy. WE remains underdiagnosed in children, with many cases only confirmed postmortem.
Ghazaleh Shakibamaram, Mohammadreza Dolikhani, Farideh Moussavi, Syna Sarraf, Bredsin Benyamin, Soroor Advani   +5 more
wiley   +1 more source

Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies

Movement Disorders, Volume 40, Issue 6, Page 996-1008, June 2025.
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice   +4 more
wiley   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder

Movement Disorders, Volume 40, Issue 2, Page 363-369, February 2025.
Abstract Background The identification of a heterozygous exonic GGC repeat expansion in ZFHX3 underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25‐year diagnostic conundrum. We used adaptive long‐read sequencing to decipher the pathogenic expansion in the index Utah family and an unrelated family from Iowa of Swedish ancestry ...
Zhongbo Chen, Pilar Alvarez Jerez, Claire Anderson, Martin Paucar, Jasmaine Lee, Daniel Nilsson, Hannah Macpherson, Annarita Scardamaglia, Kylie Montgomery, John Hardy, Andrew B. Singleton, Arianna Tucci, Katherine D. Mathews, Ying‐Hui Fu, Martin Engvall, José Laffita‐Mesa, Inger Nennesmo, Anna Wedell, Louis J. Ptáček, Cornelis Blauwendraat, Emil K. Gustavsson, Per Svenningsson, Mina Ryten, Henry Houlden   +23 more
wiley   +1 more source

Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy

European Journal of Neurology, Volume 32, Issue 2, February 2025.
ABSTRACT Background Biallelic variants in polyribonucleotide‐nucleotidyltransferase‐1 (PNPT1) have been associated with a range of phenotypes from syndromic hearing loss to Leigh's syndrome. More recently, heterozygous variants in PNPT1, have been reported in three families with cerebellar ataxia and prominent sensory neuropathy.
Saif Haddad, Christopher J. Record, Eleanor Self, Mariola Skorupinska, Alexander M. Rossor, Matilde Laura, Gordon Ingle, Adnan Manzur, Francesco Muntoni, Julian C. Blake, Mary M. Reilly   +10 more
wiley   +1 more source

Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)

Annals of Neurology, Volume 96, Issue 6, Page 1092-1103, December 2024.
Objectives Spinocerebellar ataxia 27B due to GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene has recently been recognized as a common cause of late‐onset hereditary cerebellar ataxia. Here we present the first report of this disease in the US population, characterizing its clinical manifestations, disease progression, pathological
Widad Abou Chaar, Anirudh N. Eranki, Hannah A. Stevens, Sonya L. Watson, Darice Y. Wong, Veronica S. Avila, Megan Delfeld, Alexander J. Gary, Sanjukta Tawde, Malia Triebold, Marcello Cherchi, Tao Xie, Paul J. Lockhart, Melanie Bahlo, David Pellerin, Marie‐Josée Dicaire, Matt Danzi, Stephan Zuchner, Bernard C. Brais, Susan Perlman, Margit Burmeister, Henry Paulson, Sharan Srinivasan, Lawrence Schut, Matthew Bower, Khalaf Bushara, Chuanhong Liao, Vikram G. Shakkottai, John Collins, H. Brent Clark, Soma Das, Brent L. Fogel, Christopher M. Gomez   +32 more
wiley   +1 more source

Epilepsy with eyelid myoclonia in a patient with ATP1A3‐related neurologic disorder

Epileptic Disorders, Volume 26, Issue 6, Page 847-852, December 2024.
Abstract We report on an 11 year old Polish girl who experienced paroxysmal episodes with decreased consciousness, (hemi)plegia, movement disorders, slurred speech, dysphagia, and abnormal eye movements. An extensive etiological work‐up (brain MRI, EEG, EMG, NCS, toxic, metabolic, infectious, and auto‐immune screening) was not conclusive.
Ann Mertens, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Gaëtan Lesca, Mateusz Biela, Robert Smigiel, Eleni Panagiotakaki   +6 more
wiley   +1 more source

ePoster

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Oculomotor abnormalities in patients with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) reflect midline cerebellar impairment. [PDF]

J Neurol
Storm R, Lübbers B, Borsche M, Weiss E, Nümann A, Ganos C, Brüggemann N, Helmchen C, Sprenger A.   +8 more
europepmc   +1 more source

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). [PDF]

Arq Neuropsiquiatr
Bronstein AM.
europepmc   +1 more source