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Reversible hand tremors, downbeat nystagmus, and an unsteady gait with nontoxic lithium level.

ABSTRACT: Patients with nontoxic lithium levels can still develop hand tremors, downbeat nystagmus, and an unsteady gait.

SUBMITTER: Peng YY

PROVIDER: S-EPMC6406218 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Reversible hand tremors, downbeat nystagmus, and an unsteady gait with nontoxic lithium level.

Peng Yen-Yi YY

Clinical case reports 20190124 3

Patients with nontoxic lithium levels can still develop hand tremors, downbeat nystagmus, and an unsteady gait. ...[more]

PMID: 30899510

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Lithium-induced downbeat nystagmus.

Project description:We report the case of a 76-year old lady under lithium carbonate for a bipolar disorder who presented with a suspected optic neuritis. A typical lithium-induced downbeat nystagmus was observed. Discontinuation of lithium therapy resulted in frank improvement in visual acuity and disappearance of the nystagmus.

| S-EPMC5722167 | biostudies-literature

The gait disorder in downbeat nystagmus syndrome.

Project description:BackgroundDownbeat nystagmus (DBN) is a common form of acquired fixation nystagmus with key symptoms of oscillopsia and gait disturbance. Gait disturbance could be a result of impaired visual feedback due to the involuntary ocular oscillations. Alternatively, a malfunction of cerebellar locomotor control might be involved, since DBN is considered a vestibulocerebellar disorder.MethodsInvestigation of walking in 50 DBN patients (age 72 ± 11 years, 23 females) and 50 healthy controls (HS) (age 70 ± 11 years, 23 females) using a pressure sensitive carpet (GAITRite). The patient cohort comprised subjects with only ocular motor signs (DBN) and subjects with an additional limb ataxia (DBNCA). Gait investigation comprised different walking speeds and walking with eyes closed.ResultsIn DBN, gait velocity was reduced (p<0.001) with a reduced stride length (p<0.001), increased base of support (p<0.050), and increased double support (p<0.001). Walking with eyes closed led to significant gait changes in both HS and DBN. These changes were more pronounced in DBN patients (p<0.001). Speed-dependency of gait variability revealed significant differences between the subgroups of DBN and DBNCA (p<0.050).Conclusions(I) Impaired visual control caused by involuntary ocular oscillations cannot sufficiently explain the gait disorder. (II) The gait of patients with DBN is impaired in a speed dependent manner. (III) Analysis of gait variability allows distinguishing DBN from DBNCA: Patients with pure DBN show a speed dependency of gait variability similar to that of patients with afferent vestibular deficits. In DBNCA, gait variability resembles the pattern found in cerebellar ataxia.

| S-EPMC4139349 | biostudies-literature

Mouth-Opening-Induced Vertigo and Downbeat Nystagmus.

Project description: Not available

| S-EPMC8490893 | biostudies-literature

Episodic vestibular syndrome with hyperventilation-induced downbeat nystagmus

Project description:The aim of this study was to investigate the clinical characteristics and underlying pathogenesis of episodic vestibular syndrome (EVS) with hyperventilation-induced downbeat nystagmus (HV-DBN).

2020-05-14 | GSE150453 | GEO

A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study.

Project description:Downbeat nystagmus (DBN) is a frequent form of acquired persisting central fixation nystagmus, often associated with other cerebellar ocular signs, such as saccadic smooth pursuit or gaze-holding deficits. Despite its distinct clinical features, the underlying etiology of DBN often remains unclear. Therefore, a genome-wide association study (GWAS) was conducted in 106 patients and 2609 healthy controls of European ancestry to identify genetic variants associated with DBN. A genome-wide significant association (p?<?5?×?10-8) with DBN was found for a variation on chromosome 13 located within the fibroblast growth factor 14 gene (FGF14). FGF14 is expressed in Purkinje cells (PCs) and a reduction leads to a decreased spontaneous firing rate and excitability of PCs, compatible with the pathophysiology of DBN. In addition, mutations in the FGF14 gene cause spinocerebellar ataxia type 27. Suggestive associations (p?<?1?×?10-05) could be detected for 15 additional LD-independent loci, one of which is also located in the FGF14 gene. An association of a region containing the dihydrofolate reductase (DHFR) and MutS Homolog 3 (MSH3) genes on chromosome 5 was slightly below the genome-wide significance threshold. DHFR is relevant for neuronal regulation, and a dysfunction is known to induce cerebellar damage. Among the remaining twelve suggestive associations, four genes (MAST4, TPPP, FTMT, and IDS) seem to be involved in cerebral pathological processes. Thus, this GWAS analysis has identified a potential genetic contribution to idiopathic DBN, including suggestive associations to several genes involved in postulated pathological mechanisms of DBN (i.e., impaired function of cerebellar PCs).

| S-EPMC7198638 | biostudies-literature

Finger extension weakness and downbeat nystagmus motor neuron disease syndrome: A novel motor neuron disorder?

Project description:IntroductionDisturbances of eye movements are infrequently encountered in motor neuron diseases (MNDs) or motor neuropathies, and there is no known syndrome that combines progressive muscle weakness with downbeat nystagmus.MethodsTo describe the core clinical features of a syndrome of MND associated with downbeat nystagmus, clinical features were collected from 6 patients.ResultsAll patients had slowly progressive muscle weakness and wasting in combination with downbeat nystagmus, which was clinically most obvious in downward and lateral gaze. Onset was in the second to fourth decade with finger extension weakness, progressing to other distal and sometimes more proximal muscles. Visual complaints were not always present. Electrodiagnostic testing showed signs of regional motor axonal loss in all patients.DiscussionThe etiology of this syndrome remains elusive. Because finger extension weakness and downbeat nystagmus are the discriminating clinical features of this MND, we propose the name FEWDON-MND syndrome. Muscle Nerve 56: 1164-1168, 2017.

| S-EPMC5656559 | biostudies-literature

Postural Ataxia in Cerebellar Downbeat Nystagmus: Its Relation to Visual, Proprioceptive and Vestibular Signals and Cerebellar Atrophy.

Project description:BackgroundThe cerebellum integrates proprioceptive, vestibular and visual signals for postural control. Cerebellar patients with downbeat nystagmus (DBN) complain of unsteadiness of stance and gait as well as blurred vision and oscillopsia.ObjectivesThe aim of this study was to elucidate the differential role of visual input, gaze eccentricity, vestibular and proprioceptive input on the postural stability in a large cohort of cerebellar patients with DBN, in comparison to healthy age-matched control subjects.MethodsOculomotor (nystagmus, smooth pursuit eye movements) and postural (postural sway speed) parameters were recorded and related to each other and volumetric changes of the cerebellum (voxel-based morphometry, SPM).ResultsTwenty-seven patients showed larger postural instability in all experimental conditions. Postural sway increased with nystagmus in the eyes closed condition but not with the eyes open. Romberg's ratio remained stable and was not different from healthy controls. Postural sway did not change with gaze position or graviceptive input. It increased with attenuated proprioceptive input and on tandem stance in both groups but Romberg's ratio also did not differ. Cerebellar atrophy (vermal lobule VI, VIII) correlated with the severity of impaired smooth pursuit eye movements of DBN patients.ConclusionsPostural ataxia of cerebellar patients with DBN cannot be explained by impaired visual feedback. Despite oscillopsia visual feedback control on cerebellar postural control seems to be preserved as postural sway was strongest on visual deprivation. The increase in postural ataxia is neither related to modulations of single components characterizing nystagmus nor to deprivation of single sensory (visual, proprioceptive) inputs usually stabilizing stance. Re-weighting of multisensory signals and/or inappropriate cerebellar motor commands might account for this postural ataxia.

| S-EPMC5215796 | biostudies-literature

Episodic vestibular syndrome with hyperventilation-induced downbeat nystagmus

Project description:Episodic vestibular syndrome with hyperventilation-induced downbeat nystagmus

| PRJNA632479 | ENA

New <i>AARS2</i> Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy.

Project description: Not available

| S-EPMC7396852 | biostudies-literature

A highly reversible lithium metal anode.

Project description:Lithium metal has shown a lot of promise for use as an anode material in rechargeable batteries owing to its high theoretical capacity. However, it does not meet the cycle life and safety requirements of rechargeable batteries owing to electrolyte decomposition and dendrite formation on the surfaces of the lithium anodes during electrochemical cycling. Here, we propose a novel electrolyte system that is relatively stable against lithium metal and mitigates dendritic growth. Systematic design methods that combined simulations, model-based experiments, and in situ analyses were employed to design the system. The reduction potential of the solvent, the size of the salt anions, and the viscosity of the electrolyte were found to be critical parameters determining the rate of dendritic growth. A lithium metal anode in contact with the designed electrolyte exhibited remarkable cyclability (more than 100 cycles) at a high areal capacity of 12 mAh cm(-2).

| S-EPMC5379181 | biostudies-literature

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