Results 221 to 230 of about 81,081 (302)

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism. [PDF]

Brain
Hengel H, Hannan SB, Reich S, Beijer D, Roller J, Gilsbach BK, Gloeckner CJ, Greene D, Timmann D, Depienne C, Mumford A, O'Driscoll M, Nemeth AH, Lundberg J, Rodan LH, Bruel AL, Delanne J, Deconinck T, Baets J, Gan-Or Z, Rouleau G, Suchowersky O, Estiar MA, Reich S, Toro C, Züchner S, Hazan J, Pétursson H, Harmuth F, Bauer C, Bauer P, Turro E, Lambright D, Schöls L, Synofzik M.   +34 more
europepmc   +1 more source

Mutation in RNF170 Causes Unsteady Gait with Hypertrophic Olivary Degeneration

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Hypertrophic olivary degeneration (HOD) is a rare form of transsynaptic degeneration resulting from disruption of the Guillain–Mollaret triangle, typically presenting with palatal tremor, ataxia, and nystagmus. Mutations in the Ring Finger Protein 170 (RNF170) gene have been associated with autosomal dominant sensory ataxia.
Change Wang
wiley   +1 more source

Triad of Ophthalmoplegia, Facial Palsy, and Cerebellar Ataxia with "Hot Cross Bun" Associated with Autoimmune Thyroiditis. [PDF]

Ann Indian Acad Neurol
Mustafa F, Thrupthi KM, Agarwal A, Garg A, Shamim SA, Srivastava AK, Garg D.   +6 more
europepmc   +1 more source

Wernicke’s Encephalopathy Secondary to Hyperemesis Gravidarum in Pregnancy: A Case Report

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Wernicke's Encephalopathy, although classically associated with chronic alcoholism, can also occur during pregnancy as a complication of hyperemesis gravidarum and is often underdiagnosed. We report a case of a 34‐year‐old pregnant woman at 16 weeks of gestation who presented with prolonged vomiting, altered mental status, nystagmus, and gait ...
Abhishek Mahato, Sameer Parajuli, Bandana Ghimire, Bishal Basnet, Bishal Sigdel, Bishal Kumar Yadav, Sagar Kumar Jha   +6 more
wiley   +1 more source

Clinical characterization, natural history, and neuroimaging of cerebellar ataxia after abdominal surgery. [PDF]

Arq Neuropsiquiatr
Procaci VR, Silva TYT, Hora RPCD, Barsottini OGP, Pedroso JL.   +4 more
europepmc   +1 more source

Vertebral Artery Occlusion With Ipsilateral Weakness Due to Ischemic Stroke at the Medulla–Cervical Spinal Cord Junction: A Case Report

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Posterior circulation strokes can present with diverse neurological deficits, some of which challenge conventional localization principles. We report a case of a 74‐year‐old male with a history of prior right medullary infarct who presented with recurrent symptoms and was found to have a new medullary acute ischemic stroke in the setting of ...
Peter Felton, Yugant Khand, Mohammad Gharavi, Ram Saha   +3 more
wiley   +1 more source

Serological analysis of gluten-related antibodies in idiopathic neuropathies and cerebellar ataxia. [PDF]

J Neurol
Rouvroye MD, Warendorf J, Vrancken A, Eftimov F, Wieske L, Faber CG, Hoeijmakers JGJ, Damoiseaux J, van de Warrenburg B, van Gaalen J, van der Molen R, Bouma G, Bontkes H.   +12 more
europepmc   +1 more source

Brain Metastases From Differentiated Thyroid Cancer in the Era of Targeted Therapies: A Multi‐Center Retrospective Cohort

Head &Neck, Volume 48, Issue 5, Page 1332-1339, May 2026.
ABSTRACT Background Brain metastases (BM) of differentiated thyroid carcinoma (DTC) are associated with unfavorable prognosis. This study evaluated BM management strategies and patients' outcomes. Methods A retrospective review of patients diagnosed with DTC and BM at Tel Aviv Sourasky and Rabin Medical Centers between 1985 and 2024. Clinical features,
Liyona Kampel, Shaun Edalati, Eyal Yosefof, Anton Warshavsky, Gilad Horowitz, Nidal Muhanna, Hagit Shoffel‐Havakuk, Eyal Robenshtok, Aron Popovtzer, Inbar Finkel   +9 more
wiley   +1 more source

Peripheral Inflammation Profile of Cerebellar Ataxia. [PDF]

Curr Neuropharmacol
Tang C, Deng Q, Yuan X, Ding Z, Hu J, Peng L, Yuan H, Wan N, Gong Y, Ding S, Tan Y, Lei L, Wan L, Qiu R, Tang B, Chen Z, Jiang H.   +16 more
europepmc   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source