Results 51 to 60 of about 55,413 (307)
Background: Both hypothyroidism and Hashimoto's thyroiditis (HT) can rarely be associated with cerebellar ataxia. Severe essential tremor (ET) as well as bilateral thalamic deep brain stimulation (DBS) may lead to subtle cerebellar signs. Case Report:
Natalya V. Shneyder +3 more
doaj +1 more source
Specific medications to combat cerebellar ataxias, a group of debilitating movement disorders characterized by difficulty with walking, balance and coordination, are still lacking.
Shu-Tao Xie +18 more
doaj +1 more source
Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia
BackgroundAtaxia Telangiectasia (A-T) is an inherited multisystem disorder with cerebellar neurodegeneration. The relationships between imaging metrics of cerebellar health and neurological function across childhood in A-T are unknown, but may be ...
Prasad, Manish +14 more
core +1 more source
Clinical Validation of Plasma p‐217tau in Neurological Diseases
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 +13 more
wiley +1 more source
Introduction. As more information about cerebellar ataxia induced by anti- GAD65 antibodies is accumulated, cerebellar dysfunction is increasingly associated with autoimmune causes.
J. Valinčiūtė +3 more
doaj +1 more source
CONGENITAL CEREBELLAR ATAXIA [PDF]
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openaire +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
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 +16 more
wiley +1 more source
MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia
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 +2 more
doaj +1 more source
Cerebellar Heredo-Ataxia [PDF]
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openaire +1 more source
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
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 +8 more
wiley +1 more source

