Radiation exposure and clinical outcome in patients undergoing percutaneous intradiscal ozone therapy for disc herniation: Fluoroscopic versus conventional CT guidance.

Purpose: To compare technical success, clinical success, complications and radiation dose for percutaneous intradiscal ozone therapy in patients with lumbar disc herniation using fluoroscopic guidance versus conventional computed tomography (CT) guidance.

Materials And Methods: Between March 2018and March 2021, 124consecutive percutaneous intradiscal ozone therapies wereperformedon111 patients with low back pain (LBP) and/or sciatic pain due to lumbar disc herniation, using fluoroscopic or conventional CT guidance, respectively in 53 and 58 herniated lumbar discs, with at least 1-month follow up. Dose area product (DAP) and dose length product (DLP) were recorded respectively for fluoroscopy and CT, and converted to effective dose (ED).

Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis, progressive degeneration of the basal ganglia and neuromuscular features with characteristic persistent hyperCKemia. The main NA syndromes include autosomal recessive chorea-acanthocytosis (ChAc) and X-linked McLeod syndrome (MLS). A series of Italian patients selected through a multicenter study for these specific neurological phenotypes underwent DNA sequencing of the and genes to search for causative mutations.

The cerebellum in idiopathic cervical dystonia: A specific pattern of structural abnormalities?

Introduction: In recent years, cerebellar abnormalities have gained increasing attention as possible physiopathological substratum of idiopathic cervical dystonia (ICD), but a consistent pattern of cerebellar structural modifications has not yet been established. We systematically investigated the presence of volumetric alterations of cerebellar gray (GM) and white matter (WM) in ICD patients, as well as their clinical relevance.

Methods: In this two-centers prospective cross-sectional study, from May 2013 to December 2017, 27 patients with ICD and 27 age- and sex-comparable healthy controls underwent brain MRI including 3D T1-weighted sequences for volumetric analyses.

Autonomic disorders and myocardial 123I-metaiodobenzylguanidine scintigraphy in Huntington's disease.

Background: Huntington's disease (HD) patients often present with abnormal modulation of blood pressure and heart rate. We investigated whether cardiac autonomic innervation assessed by 123I-metaiodobenzylguanidine (MIBG) imaging is impaired in HD patients, in comparison with controls (Ctrl).

Methods: Fifteen patients (6 F and 9 M) were assessed by the motor section of the Unified HD Rating Scale, the Total Function Capacity, and the scale for outcomes in Parkinson's disease-autonomic (SCOPA-AUT) questionnaire.

Optical coherence tomography angiography findings in Huntington's disease.

Objectives: To evaluate the retinal and choriocapillaris vascular networks in macular region and the central choroidal thickness (CCT) in patients affected by Huntington disease (HD), using optical coherence tomography angiography (OCTA) and enhanced depth imaging spectral-domain OCT (EDI SD-OCT).

Methods: We assessed the vessel density (VD) in superficial capillary plexus (SCP), deep capillary plexus (DCP), and choriocapillaris (CC) using OCTA, while CCT was measured by EDI SD-OCT.

Results: Sixteen HD patients (32 eyes) and thirteen healthy controls (26 eyes) were enrolled in this prospective study.

Application of the p9NORM correction method to timed neuropsychological tests in Parkinson's disease and multiple system atrophy.

Objective: Timed neuropsychological tests do not take into account physical impairment during scoring procedures. Dysarthria and upper limb impairment can be easily measured with the PATA rate test (PRT) and the nine-hole pegboard test (9HPT). We recently validated a normalization method for timed neuropsychological tests using the PRT and 9HPT (p9NORM).

Spatial and egocentric mental rotation in patients with cervical dystonia.

Mental rotation has attracted the interest of cognitive research on dystonia, but at the moment, contrasting data are available on whether this complex cognitive ability is impaired in the disorder. Here, we assessed spatial and egocentric mental rotation in patients with cervical dystonia (CD). Patients with CD and healthy controls were required to perform a letter rotation task (spatial mental rotation) and to judge laterality of front-facing and back-facing human images (egocentric mental rotation).

Personality traits associated with blepharospasm: A comparison with healthy subjects, patients with facial hemispasm and patients with hyperhidrosis.

The aim of this study is to explore the existence of specific personality traits related to patients with blepharospasm (BSP), treated with injections of botulinum neurotoxin (BTX). Sixteen patients with BSP, 22 with facial hemispasm (HFS), 20 with essential hyperhidrosis (EH) and 20 healthy controls (HCs) completed the Temperament and Character Inventory-Revised to explore personality traits based on Cloninger's Psychobiological Model. The results revealed that the four groups differed on the Harm Avoidance (HA) scale and fear of uncertainty subscale, as well as on Persistence (PS).

Frontal defect contribution to decreasing of body mass index in Parkinson's disease patients.

Objective: Weight loss is common in patients with Parkinson's disease (PD). It has been reported that low Body Mass Index (BMI) is associated with disease progression in these patients, but only a few data are available on the relationship between BMI and cognitive dysfunctions in PD patients. In the present study we systematically assessed the possible relationship between BMI index and specific cognitive defects.

Perseverative Behavior on Verbal Fluency Task in Patients with Huntington's Disease: a Retrospective Study on a Large Patient Sample.

Objective: Patients with Huntington's disease (HD) may show impairments of frontal cortical-subcortical circuits with difficulties on cognitive flexibility tasks. One marker of poor flexibility is "perseveration" behavior, which refers to inappropriate and involuntary production of iterative responses not adequate to the current task demands. This study explored frequency, type, and possible cognitive mechanisms of verbal perseverations in a large sample of HD patients.

Cognitive correlates of prospective memory in dystonia.

Introduction: Executive dysfunctions are observed in focal dystonia (i.e., blepharospasm and cervical dystonia).

The flavor test is a sensitive tool in identifying the flavor sensorineural dysfunction in Parkinson's disease.

Gustatory perception has been poorly explored in Parkinson's disease (PD). Aim of this study was to assess the flavor ability in PD patients, using the "flavor test" (FT), a new standardized and validated tool to examine the flavor perception. Thirty-eight patients (17 F and 21 M) and 36 control subjects (15 F and 21 M) comparable for age and gender were enrolled.

The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications.

Introduction: Subjects with Rett syndrome (RS) develop invariably severe motor deterioration resulting in swallowing difficulties that may produce excessive drooling. Hypersalivation can cause discomfort due to hygienic problems and may complicate with oral and respiratory dysfunctions. The aim of this study is to evaluate the response to treatment with botulinum toxin (BTX) for hypersalivation and to identify possible benefits of saliva reduction on oral motor and respiratory disorders of patients with RS.

DNA damage signatures in peripheral blood cells as biomarkers in prodromal huntington disease.

Easily accessible biomarkers in Huntington disease (HD) are actively searched. We investigated telomere length and DNA double-strand breaks (histone variant pγ-H2AX) as predictive disease biomarkers in peripheral blood mononuclear cells (PBMC) from 25 premanifest subjects, 58 HD patients with similar CAG expansion in the huntingtin gene (HTT), and 44 healthy controls (HC). PBMC from the pre-HD and HD groups showed shorter telomeres (p < 0.

Reversible Valproate-Induced Subacute Encephalopathy Associated With a Variant in the Mitochondrial Genome.

There are several reported cases of patients developing motor and cognitive neurological impairment under treatment with valproic acid (VPA). We describe a woman who developed a subacute encephalopathy after VPA intake, harboring a mitochondrial DNA variant, previously described as causing VPA sensitivity in one pediatric patient. A 65-year old woman developed a progressive, severe neurological deterioration after a 3 month treatment with valproate sodium, 800 mg daily.

Predictors of survival in spinocerebellar ataxia type 2 population from Southern Italy.

One hundred-eighteen spinocerebellar ataxia type 2 patients from 35 distinct families personally observed between 1973 and 2016 were retrospectively reviewed. The time point of data collection was 1 January 2017. Thirty-one patients were confined to wheelchair.

The Italian version of the quick mild cognitive impairment (Qmci-I) screen: normative study on 307 healthy subjects.

Objective: To devise an Italian version of the quick mild cognitive impairment screen (Qmci) and to obtain normative data.

Methods: An Italian version of the Qmci screen (Qmci-I) was administered to 307 subjects free from cognitive impairment. The normative sample was divided into three age levels (50-59; 60-69 and 70-80 years) and four education levels (3-5; 6-8; 9-13; >13 years of school attendance).

Animal-Assisted Therapy in Elderly Patients: Evidence and Controversies in Dementia and Psychiatric Disorders and Future Perspectives in Other Neurological Diseases.

Animal-assisted therapy (AAT) includes a set of nonpharmacological interventions aimed at improving human health through the use of trained or untrained animals. In recent decades, AAT has been trialed for different neurological and psychiatric disorders. In patients with dementia, interaction with animals seems to have a positive influence on aggressiveness and anxiety and to ameliorate quality of life and relationship skills.

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.

Background: Epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) is a rare channelopathy due to KCNJ10 mutations. So far, only mild cerebellar hypoplasia and/or dentate nuclei abnormalities have been reported as major neuroimaging findings in these patients.

Methods: We analyzed the clinical and brain MRI features of two unrelated patients (aged 27 and 23 years) with EAST syndrome carrying novel homozygous frameshift mutations (p.

Closing-in Phenomenon in Huntington's Disease: A Neuropsychological Marker of Frontal/Executive Dysfunction.

Objective: In visuo-constructional tasks, patients may reproduce drawings near-to or superimposed on a model, showing the so-called "Closing-in" (CI), often ascribed to a defect in inhibitory control. CI has been described in neurological conditions, but no studies have explored CI in Huntington's disease (HD), a neurodegenerative disorder often involving the frontal cortical-subcortical circuits. We searched for the occurrence of CI in HD patients and systematically investigated its correlates to find a clinical marker of the frontal/executive dysfunctions in the early examination of HD patients.

Adult normative values for the PATA Rate Test.

Background: During neurological evaluation, dysarthria is not rated using quantitative measures, but rather using a qualitative approach.

Objective: Aim of our study was to validate and acquire normative values for the PATA Rate Task (PRT), a quantitative test used to measure the severity of dysarthria.

Methods: For the PRT probands are invited to repeat the syllables "PA-TA" as quickly as possible during a 10-s interval.

Emotion Recognition and Psychological Comorbidity in Friedreich's Ataxia.

Friedreich's ataxia (FRDA) is an autosomal recessive disease presenting with ataxia, corticospinal signs, peripheral neuropathy, and cardiac abnormalities. Little effort has been made to understand the psychological and emotional burden of the disease. The aim of our study was to measure patients' ability to recognize emotions using visual and non-verbal auditory hints, and to correlate this ability with psychological, neuropsychological, and neurological variables.

Cognitive profile and 18F-fluorodeoxyglucose PET study in LRRK2-related Parkinson's disease.

Introduction: LRRK2 gene mutations underlie the most common mendelian form of Parkinson's Disease (PD), designated PARK8, that shows clinical features similar to those in idiopathic PD (IPD). We assessed the cognitive functions and the cerebral metabolism measured with 18F-fluorodeoxyglucose (FDG)-PET in PARK8 patients compared with IPD.

Patients And Methods: We enrolled eight PARK8 patients and eight IPD patients, comparable for onset age, stage, severity and duration of disease.

Correction to: Peripheral markers of autophagy in polyglutamine diseases.

Dr. Peluso's given name and family name were initially interchanged inadvertently. The correct names have been corrected above.