Results 51 to 60 of about 101,774 (257)

Paraneoplastic anti-Yo antibody mediated subacute cerebellar degeneration. Case series and literature review

Neurologijos seminarai, 2020
Paraneoplastic neurologic syndromes are a subgroup of diseases due to indirect cytotoxic effects of the immune system on specific brain structures rather than the mass effect itself.
M. Vaišvilas , R. Mameniškienė , A. Barkauskienė   +2 more
doaj   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

Clinical and genetic correlation of spinocerebellar ataxia patients: Insights from a tertiary care investigation

Annals of Movement Disorders
INTRODUCTION: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by progressive cerebellar ataxia and various noncerebellar manifestations.
Bashir Sanie, Atif Kawoosa, Ibrar Ahmed Khan, Sheikh Hilal, Zubair Ul Nazir, Adnan Firdaus Raina   +5 more
doaj   +1 more source

Loss of prostatic acid phosphatase and α-synuclein cause motor circuit degeneration without altering cerebellar patterning.

PLoS ONE, 2019
Prostatic acid phosphatase (PAP), which is secreted by prostate, increases in some diseases such as prostate cancer. PAP is also present in the central nervous system. In this study we reveal that α-synuclein (Snca) gene is co-deleted/mutated in PAP null
Maryam Rahimi-Balaei, Matthew Buchok, Pirkko Vihko, Fiona E Parkinson, Hassan Marzban   +4 more
doaj   +1 more source

Delayed cerebellar ataxia induced by Plasmodium falciparum malaria: A rare complication

Clinical Case Reports, 2023
Key Clinical Message In endemic areas, malaria‐induced cerebellar ataxia should be suspected in patients presenting with neurological disorders including slurred speech, tremors, and a sense of imbalance and dizziness while walking.
Emmanuel Edwar Siddig, Sarah Misbah El‐Sadig, Hala Fathi Eltigani, Ahmed Mudawi Musa, Nouh Saad Mohamed, Ayman Ahmed   +5 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Neurological Disease Modelling for Spinocerebellar Ataxia Using Zebrafish

Journal of Experimental Neuroscience, 2019
The cerebellum integrates sensory information and motor actions. Increasing experimental evidence has revealed that these functions as well as the cerebellar cytoarchitecture are highly conserved in zebrafish compared with mammals. However, the potential
Kazuhiko Namikawa, Alessandro Dorigo, Reinhard W Köster   +2 more
doaj   +1 more source

Coeliac disease presenting with cerebellar degeneration [PDF]

Postgraduate Medical Journal, 1991
Summary A case of rapidly progressive cerebellar degeneration with bilateral sixth nerve palsies is described in whom investigation revealed the presence of unsuspected coeliac disease. In spite of treatment with a gluten free diet, rapid fatal deterioration occurred.
R A, Hermaszewski, S, Rigby, A G, Dalgleish   +2 more
openaire   +2 more sources

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

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source