Results 61 to 70 of about 81,081 (302)

Update in Autoimmune Movement Disorders: Newly Described Antigen Targets in Autoimmune and Paraneoplastic Cerebellar Ataxia

Frontiers in Neurology, 2021
Movement disorders are a common feature of many antibody-associated neurological disorders. In fact, cerebellar ataxia is one of the most common manifestations of autoimmune neurological diseases.
Madeline Garza, Amanda L. Piquet
doaj   +1 more source

The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]

, 2013
A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core  

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

Spinocerebellar ataxia type 6 in Brazil Ataxia espinocerebelar tipo 6 no Brasil

Arquivos de Neuro-Psiquiatria, 2008
Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13.
Hélio A.G. Teive, Renato Puppi Munhoz, Salmo Raskin, Lineu César Werneck   +3 more
doaj   +1 more source

BREAST CANCER ASSOCIATED ANTI YO-ANTIBODY MEDIATED PARANEOPLASTIC CEREBELLAR DEGENERATION: CASE SERIES AND REVIEW OF LITERATURE

Malang Neurology Journal, 2022
Paraneoplastic cerebellar degeneration (PCD) is a rare immune mediated disorder characterized by progressive cerebellar ataxia in presence of onconeural antibodies which occurs due to an indirect effect of underlying malignancy i.e.
Sanaullah Mudassir, Ashok Kumar, Neetu Sinha, Abhay Ranjan   +3 more
doaj   +1 more source

Uner Tan Syndrome: History, Clinical Evaluations, Genetics, and the\ud Dynamics of Human Quadrupedalism [PDF]

, 2010
: This review includes for the first time a dynamical systems analysis of human quadrupedalism in Uner Tan syndrome, which is characterized by habitual quadrupedalism, impaired intelligence, and rudimentary speech.
Tan, Prof. Dr. Uner
core  

Subacute Sclerosing Panencephalitis of the Brainstem as a Clinical Entity. [PDF]

, 2017
Subacute sclerosing panencephalitis (SSPE) is a rare progressive neurological disorder of early adolescence caused by persistent infection of the measles virus, which remains prevalent worldwide despite an effective vaccine. SSPE is a devastating disease
Ciacci, Joseph D, Upadhyayula, Pavan S, Yang, Jason, Yue, John K   +3 more
core   +3 more sources

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

MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia

Journal of the Belgian Society of Radiology, 2022
Our case report describes a 34-year-old patient sent for magnetic resonance imaging (MRI) after four years of slow onset neurological symptoms. An MRI of her brain showed moderate to severe atrophy of the cerebellum and brainstem.
Alexander Thorvaldsson, Pir Abdul Ahad Aziz Qureshi, Vikram rao Bollineni   +2 more
doaj   +1 more source

The MRN complex is transcriptionally regulated by MYCN during neural cell proliferation to control replication stress [PDF]

, 2015
The MRE11/RAD50/NBS1 (MRN) complex is a major sensor of DNA double strand breaks, whose role in controlling faithful DNA replication and preventing replication stress is also emerging. Inactivation of the MRN complex invariably leads to developmental and/
A Dupre, A Gulino, A Kuzyk, A Shibata, A Soriani, A Wey, A Wey, AM Duursma, AM Taylor, B Argenti, B Ricci, B Shiotani, BR Stanton, C Bruhn, C Heil, CJ Thiele, CL Marcelis, D Dominguez-Sola, D Fruci, DW Felsher, EA Rahal, F Sardina, G Giannini, G Giannini, H van Bokhoven, HE Bryant, I Screpanti, J Buis, J Charron, J Lafrance-Vanasse, J Wu, K Schlacher, K Trenz, KA Cole, KH Chrzanowska, KK To, L Di Marcotullio, LJ Valentijn, M Cognet, M Murga, M Petroni, M Petroni, M Sahún-Roncero, M Wilda, M Wojewodzka, O Chayka, P Khongkow, PE Neiman, PJ Hurlin, PO Frappart, PS Knoepfler, R Moser, R Thompson, R Waltes, RS Williams, RV Pusapati, S Albini, S Biton, S Ray, S Rohban, S Sawai, S Ying, SV Srinivasan, TG Oliver, TH Stracker, V Colicchia, V Veschi, V Veschi, W Lutz, YC Chiang, YL Lin   +70 more
core   +1 more source