Pure downgaze palsy from isolated infarction of the left paramedian thalamic-mesencephalon junction.

A 65-years-old female was hospitalized 24 h after experiencing the sudden onset of subjective reduction in visual acuity and hypersomnia. On admission to the neurological ward, she presented isolated downgaze palsy. A Magnetic Resonance Imaging of the brain disclosed a discrete, ovalar hyperintensity involving the left paramedian thalamic-mesencephalon junction.

Lithium-induced subacute diencephalic angio endotheliopathy.

A 65-years-old woman with bipolar affective disorder presented to our ED with a severe lithium intoxication and the recent onset of confusion, clumsiness, and tremors. Symptoms worsened to stupor and anarthria immediately after hospital admission. Gadolinium-enhanced brain Magnetic Resonance Imaging (MRI) showed signal hyperintensity involving both thalami in T2weighted (T2w)/Fluid Attenuated Inversion Recovery sequences (right > left), restricted areas of proton diffusivity at the level of both occipital lobes and a sharp contrast enhancement of thalami, rhombencephalon, and of leptomeninges from either the temporal, parietal, occipital lobes as well as from the cerebellar folia (right > left).

A very rare cause of leukoencephalopathy: Lymphomatosis cerebri.

Leukoencephalopathy is a common finding on Magnetic Resonance Imaging (MRI), particularly in the elderly. A differential diagnosis may represent a very bet for clinicians when clear elements for diagnosis are lacking. Diffuse infiltrative "non mass like" leukoencephalopathy on MRI may represent the presentation of a very rare aggressive condition known as lymphomatosis cerebri (LC).

Bringing door-to-needle times within the European benchmarks results in better stroke patients outcomes in a spoke hospital from the Apulian Region.

Introduction: Door-to-needle time (DNT) is a key factor in acute stroke treatment success. We retrospectively analysed the effects of a new protocol aimed at reducing treatment delays in our single-centre observational series over a 1-year period (from October 1st 2021 to September 30th 2022).

Methods: The time frame was divided into two semesters as a new protocol was started at the beginning of the second semester to ensure a rapid evaluation, imaging, and intravenous thrombolysis in all stroke patients attending our spoke-hospital serving 200,000 inhabitants.

Motor Phenomena Associated With Leucine-Rich Glioma-Inactivated (LGI1) Emi-Encephalitis.

LGI1 encephalitis is a rare immune-mediated brain disorder. Its typical features include faciobrachial dystonic seizures (FBDS), startle reactions, chorea, myoclonus, atypical parkinsonism, cogni-tive impairment, and personality changes. We report the case of a 57-year-old woman presenting with distinct patterns of involuntary movements, including faciobrachial dystonic spasms, dyskinetic movements, and chorea.

Lemierre's syndrome complicated by cerebral venous sinus thrombosis: A life threatening and rare disease successfully treated with empiric antimicrobial therapy and conservative approach.

Lemierre's syndrome (LS) is a "forgotten" condition characterized by septic thrombophlebitis of the jugular vein that follows an otolaryngological infection. Fusobacterium necrophorum is the aetiological agent responsible for the syndrome in adolescents and young adults whereas in older people even common bacteria are involved. Complications arise from spreading of septic emboli distally, to the brain, lungs, bones and internal organs everywhere in the body.

Functional Rabbit Syndrome: A Case Report.

Rabbit Syndrome is a rare involuntary movement occurring in 1.5-4.4% of patients receiving antipsychotics and characterized by rapid, regular movements (4-6 Hz) of the oral and masticatory musculature resembling the chewing motions of a rabbit.

Treatment of essential tremor: a systematic review of evidence and recommendations from the Italian Movement Disorders Association.

Essential tremor (ET) is one of the most common movement disorders of adults, characterized by postural and kinetic tremor. It often causes embarrassment and more rarely serious disability, requiring treatment. To assess the current state of knowledge on ET therapy and produce recommendations based on the analysis of evidence the authors reviewed the literature regarding pharmacologic and surgical therapies, providing a quality assessment of the studies and the strength of recommendations for each treatment.

Eye symptoms in relatives of patients with primary adult-onset dystonia.

Methods: Using a validated questionnaire, we screened eye symptoms (burning sensation, grittiness, dry eye) in 333 first-degree relatives of 140 probands with different forms of primary adult-onset dystonia, 208 healthy subjects, and 293 patients with primary blepharospasm.

Results: The rate of eye symptoms was similar in the relatives of focal dystonia patients and in healthy subjects (adjusted HR, 1.1; 95% CI, 0.

Brain F-18 Fluorocholine PET/CT for the assessment of optic pathway glioma in neurofibromatosis-1.

A 22-year-old man diagnosed with neurofibromatosis-I was admitted to the neurology department because of progressive hemianopsia and chronic headache. Magnetic resonance imaging, magnetic resonance spectroscopy (MRS), and F-18 fluorocholine revealed a splenial mass with imaging features compatible with malignant astrocytoma. At follow-up examination, the sharp decrease in F-18 fluorocholine uptake and in choline/creatine ratio supported a conservative management.

Midbrain SERT in degenerative parkinsonisms: a 123I-FP-CIT SPECT study.

SPECT imaging is widely used for the differential diagnosis of degenerative parkinsonisms by exploiting the high affinitiy of the radiotracer (123)I-FP-CIT for the dopamine transporter. Reduced levels of DAT are found in Parkinson Disease (PD), Dementia with Lewy Bodies (DLB), and Progressive Supranuclear Palsy (PSP) compared to in Essential Tremor (ET) and Healthy Controls (HC). However, the extent of the neurodegenerative process may extend beyond nigrostriatal system.

The phenomenology of the geste antagoniste in primary blepharospasm and cervical dystonia.

The geste antagoniste (GA), a relatively common feature of adult-onset primary dystonia, has been systematically evaluated only in cervical dystonia, but it is still unclear whether its frequency and phenomenology differ among the various forms of focal dystonia. We analysed the frequency, phenomenology, effectiveness, and relationship of the GA with demographic/clinical features of dystonia in a representative clinical series of patients with the two most common forms of adult-onset primary dystonia, blepharospasm (BSP) and cervical dystonia (CD). Clinical data were gathered using a standardized questionnaire, which showed substantial test-retest reliability (kappa = 0.

Speech-induced blepharospasm.

Primary blepharospasm is an adult-onset dystonia typically present at rest and exacerbated by bright light, stress and voluntary movements of eyes and eyelids. Inconsistency or inducibility by activities involving muscles other than orbicularis oculi muscles are considered incongruous with typical primary blepharospasm, heralding the suspicion of psychogenicity. We report the clinical vignette of two patients manifesting an unusual presentation of primary blepharospasm, specifically triggered by voiced speech and associated with an otherwise 'typical' presentation of primary adult-onset dystonia in the lower face, larynx or upper limb.

Severity of neuropsychiatric symptoms and dopamine transporter levels in dementia with Lewy bodies: a 123I-FP-CIT SPECT study.

Neuropsychiatric symptoms are frequent in dementia with Lewy bodies (DLB). Dopamine transporter (DAT) imaging with (123)I-labeled ligand N-delta-(fluoropropyl)-2 beta-carbomethoxy-3beta-(4-iodophenyl)tropene ((123)I-FP-CIT), which reliably measures midbrain dopaminergic dysfunction, has provided important evidence on the neurobiological substrate of some of these symptoms including apathy and depression. However, little is known on DAT levels and other distressing symptoms such as delusions and hallucinations.

The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.

We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. The relationship between rs1182 polymorphism and spread was estimated by Kaplan-Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele.

Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: case study and effect of deep brain stimulation.

Bilateral striatal necrosis (BSN) is relatively rare and has been related to a wide array of causes, including nuclear and mitochondrial DNA mutations. We report the clinical vignette of a patient with a 37 year-history of generalized dystonia secondary to BSN associated with multiple mitochondrial DNA deletions of undefined origin. Globus pallidus interna deep brain stimulation produced sustained benefit, with predominant improvements in disability.

Planning genetic studies on primary adult-onset dystonia: sample size estimates based on examination of first-degree relatives.

Primary adult-onset dystonia is thought to be partly genetic, but families large enough for a genome wide search are difficult to find. We examined the first-degree relatives of 76 primary adult-onset dystonia patients to assess the feasibility of model-free nonparametric methods that allow either screening of candidate loci (case-control design, transmission disequilibrium test [TDT], and sibling-TDT [S-TDT]) or identification of novel genes (affected sib-pair [ASP] method). Among the examined relatives, 1/34 parents, 13/149 siblings and 10/125 offspring were affected by adult-onset dystonia.

Head trauma in primary cranial dystonias: a multicentre case-control study.

Background: The relationship between prior trauma and primary adult-onset dystonia is not well understood. Previous uncontrolled observations and exploratory case-control studies have yielded contradictory results.

Objective: To analyse the association between cranial dystonia and prior head trauma.

Reversible Parkinsonian syndrome associated with anti-neuronal antibodies in acute EBV encephalitis: a case report.

We report a case of subacute-onset isolated parkinsonian syndrome in a 16 years old patient. Epstein-Barr infection was diagnosed according to serologic evidences. Parkinson-like syndrome completely recovered after 60 days.

Sensitivity and specificity of a self-administered questionnaire for familial screening of adult-onset dystonia.

We developed a self-administered questionnaire for screening the most common adult-onset dystonias. It was tested in 90 first-degree relatives of 22 adult-onset dystonia patients, yielding 79% sensitivity and 94% specificity. Simulation of a case-finding procedure based on serial application of the questionnaire and clinical examination of both subjects screening positive and subjects screening negative who had < 8 years of schooling increased sensitivity to 95% and specificity to 100%.

Validity of family history data on primary adult-onset dystonia.

Background: To our knowledge, no study has assessed the validity of family history data provided by probands with adult-onset dystonia.

Objective: To measure the sensitivity and specificity of interviewing patients with primary adult-onset dystonia as a method for obtaining information on dystonia in first-degree relatives.

Participants: Seventy probands with primary adult-onset dystonia were asked to identify first-degree relatives who had dystonia.

Interferon beta-1a counteracts effects of activation on the expression of G-protein-coupled receptor kinases 2 and 3, beta-arrestin-1, and regulators of G-protein signalling 2 and 16 in human mononuclear leukocytes.

Activation regulates the responsiveness of G-protein-coupled receptors (GPCRs) on T cells, and modifications in the activity of GPCRs characterize lymphocytes from some immune disorders such as multiple sclerosis (MS) and rheumatoid arthritis (RA). Some lines of evidence suggest that such an effect is connected with the altered expression of some GPCRs regulatory proteins. Herein we demonstrate that phitoemagglutinin (PHA)-induced activation leads to differential expression of G-protein-coupled receptor kinase (GRK) 2, GRK3, beta-arrestin-1, regulators of G-protein signalling (RGS) 2, and RGS16 and decreases responsiveness of mononuclear leukocytes (MNL) to the beta-adrenergic agonist isoproterenol.

Menopause and menarche in patients with primary blepharospasm: an exploratory case-control study.

We studied the relationships between blepharospasm (BSP) and menopause/menarche in female patients with primary BSP (n = 83) and age-matched healthy (n = 83) and disease controls (n = 83). BSP patients and matched controls had comparable age at menopause, and there was no correlation between age at menopause and age at BSP onset. Thus, menopause probably exerts no significant influence on the age-dependent development of BSP.