Results 111 to 120 of about 80,232 (259)

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed Espectro clínico da ataxia cerebelar de início precoce com reflexos mantidos: uma ataxia autossômica recessiva para não ser esquecida

open access: yesArquivos de Neuro-Psiquiatria, 2013
Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper
José Luiz Pedroso   +4 more
doaj  

A novel mutation in SACS gene in a family from southern Italy [PDF]

open access: yes, 2004
A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC),
BANFI S   +10 more
core  

Potential neuroprotective and therapeutic agents and their mechanisms for irradiation‐induced brain injury

open access: yesIbrain, EarlyView.
In this review, agents such baicalein, troxerutin, epigallocatechin gallate, quercetin, melatonin, valproic acid, lithium, neurosteroid progesterone, as well as minocycline have been implicated as neuroprotective agents for irradiation‐induced neurological deficits. Also, agents such as glucocorticoids, methylphenidate, vitamin E, bisdemethoxycurcumin,
Seidu A. Richard   +2 more
wiley   +1 more source

Anti‐NMDA receptor autoimmune encephalitis associated with ovarian teratoma: A case series and literature review

open access: yesInternational Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 23-30, April 2025.
Abstract Autoimmune encephalitis is a group of disorders characterized by symptoms of dysfunction of the limbic and extra‐limbic systems that occur in association with antibodies against intracellular antigens, synapses, or proteins located on the surface of nerve cells. Anti‐NMDA (N‐methyl‐D‐aspartate) receptor encephalitis was first described in 2007
Pham Ba Nha   +6 more
wiley   +1 more source

Movement Disorders in Neuromyelitis Optica Spectrum Disorder: A Systematic Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Several movement disorders (MD) have been reported to occur in neuromyelitis optica spectrum disorder (NMOSD). No extensive review has addressed the whole spectrum of MD in NMOSD. Objective This article aims to review MD in NMOSD, describing its prevalence and features.
Luciana A.F. Bringel   +18 more
wiley   +1 more source

Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan

open access: yesAnnals of Clinical and Translational Neurology
Background and Objectives The GAA repeat expansion within the fibroblast growth factor 14 (FGF14) gene has been found to be associated with late‐onset cerebellar ataxia.
Masahiro Ando   +20 more
doaj   +1 more source

Ocular Motor Abnormalities in Functional Neurological Disorder: A Video‐Oculography Study

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Functional neurological disorders (FND) can include various sensory, motor or cognitive symptoms. Eye movement recordings, measured through video‐oculography, could serve as biomarkers for characterizing these dysfunctions in FND.
Aude Sangare   +13 more
wiley   +1 more source

Primary Coenzyme Q10 Deficiency [PDF]

open access: yes, 2017
open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive ...
Doimo, Mara   +3 more
core  

Therapeutic decision making in autoimmune and inflammatory disorders of the central nervous system in children. [PDF]

open access: yes, 2016
Autoimmune and inflammatory disorders of the central nervous system can result in significant morbidity and mortality. Through the recognition of syndromes using diagnostic biomarkers, the clinician is now able to use immune suppressive therapies to ...
Dale, Rc, Lim, M., Nosadini, M
core  

Surgical Treatment of Tremor Syndromes: A Guide to the Clinician

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Tremor is a common feature of multiple neurological conditions, and while medications can be effective in mild cases, surgical interventions are often required in moderate–severe syndromes or when medication side‐effects are unacceptable.
James Peters   +5 more
wiley   +1 more source

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