The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.

Background: Mutations in ANO3 are a rare cause of autosomal dominant isolated or combined dystonia, mainly presenting in adulthood.

Cases: We extensively characterize a new, large ANO3 family with six affected carriers. The proband is a young girl who had suffered from tremor and painful dystonic movements in her right arm since the age of 11 years.

Onset and mortality of Parkinson's disease in relation to type II diabetes.

Objectives: There is growing evidence that Parkinson's disease and diabetes are partially related diseases; however, the association between the two, and the impact of specific treatments, are still unclear. We evaluated the effect of T2D and antidiabetic treatment on age at PD onset and on all-cause mortality.

Research Design And Methods: The standardized rate of T2D was calculated for PD patients using the direct method and compared with subjects with essential tremor (ET) and the general Italian population.

Negative symptoms in Huntington's disease.

Background: Apathy is the commonest psychiatric manifestation in Huntington's disease (HD). We investigated negative psychiatric symptoms-as determined by the Scale for the Assessment of Negative Psychiatric Symptoms (SANS)-in early and intermediate HD patients, hypothesizing that such symptoms would be prominent and constitute a more comprehensive and clinically relevant assessment than apathy alone. We also assessed relations between negative symptoms and disease stage, mood, motor, and cognitive disturbances.

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.

Background: Dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements and/or postures. Heterozygous variants in lysine methyltransferase 2B (KMT2B), encoding a histone H3 methyltransferase, have been associated with a childhood-onset, progressive and complex form of dystonia (dystonia 28, DYT28). Since 2016, more than one hundred rare KMT2B variants have been reported, including frameshift, nonsense, splice site, missense and other in-frame changes, many having an uncertain clinical impact.

Geographic differences in the incidence of Huntington's disease in Sardinia, Italy.

Background: The frequency of Huntington's disease (HD) may vary considerably, with higher estimates in non-Asian populations. We have recently examined the prevalence of HD in the southern part of Sardinia, a large Italian Mediterranean island that is considered a genetic isolate. We observed regional microgeographic differences in the prevalence of HD across the study area similar to those recently reported in other studies conducted in European countries.

Prevalence of Huntington's disease in Southern Sardinia, Italy.

Background: The frequency of Huntington's disease (HD) may vary considerably, with higher estimates in non Asian populations. In Italy, two recent studies performed in Ferrara county and Molise provided different prevalence estimates, varying from 4.2 × 10 to 10.

Efficient RT-QuIC seeding activity for α-synuclein in olfactory mucosa samples of patients with Parkinson's disease and multiple system atrophy.

Background: Parkinson's disease (PD) is a neurodegenerative disorder whose diagnosis is often challenging because symptoms may overlap with neurodegenerative parkinsonisms. PD is characterized by intraneuronal accumulation of abnormal α-synuclein in brainstem while neurodegenerative parkinsonisms might be associated with accumulation of either α-synuclein, as in the case of Multiple System Atrophy (MSA) or tau, as in the case of Corticobasal Degeneration (CBD) and Progressive Supranuclear Palsy (PSP), in other disease-specific brain regions. Definite diagnosis of all these diseases can be formulated only neuropathologically by detection and localization of α-synuclein or tau aggregates in the brain.

Stereotypic behaviours in frontotemporal dementia and progressive supranuclear palsy.

Introduction: The behavioural variant of frontotemporal dementia (bvFTD), and the Richardson variant of progressive supranuclear palsy (PSP-RS) share several clinical signs and symptoms. Since stereotypic behaviours are fairly common in bvFTD, and are also described in other degenerative dementias including Alzheimer's disease, and parkinsonisms with dementia, we aimed to examine the extent to which stereotypies also characterise PSP-RS.

Methods: We compared 53 bvFTD patients with 40 demented PSP-RS patients, seen consecutively as outpatients at four Italian Hospitals.

Psychosocial difficulties in patients with Parkinson's disease.

The aim of this study was to report the most frequent psychosocial difficulties (PSDs) in patients with Parkinson disease (PD), to explore the relationship between PSDs, disability and quality of life (QoL), and to address the predictors of PSDs. Patients with PD were interviewed using a protocol composed of a questionnaire investigating PSDs (PARADISE 24), QoL, disability, comorbidity, and social support questionnaires, scales on resilience, personality traits, and empathy in physician. Most frequent PSDs were reported.

Capgras delusion for animals and inanimate objects in Parkinson's Disease: a case report.

Background: Capgras delusion is a delusional misidentification syndrome, in which the patient is convinced that someone that is well known to them, usually a close relative, has been replaced by an impostor or double. Although it has been frequently described in psychotic syndromes, including paranoid schizophrenia, over a third of the documented cases of Capgras delusion are observed in patients with organic brain lesions or neurodegenerative disease, including Parkinson's Disease. Variants of Capgras involving animals or inanimate objects have also been described.

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Hereditary spastic paraplegias are a heterogeneous group of neurodegenerative disorders, clinically classified in pure and complex forms. Genetically, more than 70 different forms of spastic paraplegias have been characterized. A subgroup of complicate recessive forms has been distinguished for the presence of thin corpus callosum and white matter lesions at brain imaging.

Longitudinal study of cognitive and psychiatric functions in spinocerebellar ataxia types 1 and 2.

The role of the cerebellum in cognition, both in healthy subjects and in patients with cerebellar diseases, is debated. Neuropsychological studies in spinocerebellar ataxia type 1 (SCA1) and type 2 (SCA2) demonstrated impairments in executive functions, verbal memory, and visuospatial performances, but prospective evaluations are not available. Our aims were to assess progression of cognitive and psychiatric functions in patients with SCA1 and SCA2 in a longitudinal study.

The progression of non-motor symptoms in Parkinson's disease and their contribution to motor disability and quality of life.

Non-motor symptoms are gaining relevance in Parkinson's disease (PD) management but little is known about their progression and contribution to deterioration of quality of life. We followed prospectively 707 PD patients (62 % males) for 2 years. We assessed non-motor symptoms referred to 12 different domains, each including 1-10 specific symptoms, as well as motor state (UPDRS), general cognition, and life quality.

Cortical myoclonus in childhood and juvenile onset Huntington's disease.

Objective: Huntington's disease (HD) appearing before the age of 20 years gives rise to a distinct phenotype with respect to the classical adult-onset disease. Here we describe three patients with childhood or juvenile HD onset presenting with action myoclonus.

Methods: We performed jerk-locked back-averaging (JLBA), EEG-EMG coherence and phase analysis, long-loop reflexes (LLRs) and somatosensory evoked potentials (SSEPs).

Concordance between severity of disease, prevalence of nonmotor symptoms, patient-reported quality of life and disability and use of medication in Parkinson's disease.

The aim of this study was to test the concordance between disease severity, prevalence of nonmotor symptoms, age, health-related quality of life (HRQoL), disability and medication use in patients with Parkinson's disease (PD). Severity was classified with the Hoehn and Yahr (HY) scale and Levodopa Equivalent Daily Dose (LEDD) calculated. HRQoL was evaluated with the SF-36, disability with the WHO-DAS II and nonmotor symptoms with the NMSQuest.

Impact of nonmotor symptoms on disability in patients with Parkinson's disease.

Patients with Parkinson's disease have nonmotor symptoms (NMS) that, although poorly considered, have an impact on their quality of life. In contrast, the effect on disability is not systematically evaluated. Adult patients were consecutively enrolled and administered the Non-Motor Symptoms Questionnaire and the WHO Disability Assessment Schedule.

Relationships between disability, quality of life and prevalence of nonmotor symptoms in Parkinson's disease.

Patients with Parkinson's disease suffer from a variety of motor and nonmotor symptoms (NMS), report reduced quality of life and increased disability. Aims of this study are to assess the impact of Parkinson's disease on disability and quality of life, to evaluate the relationships between them and NMS prevalence. In this cross-sectional study, adult patients were consecutively enrolled and administered the World Health Organization Disability Assessment Schedule (WHO-DAS II), the 36-Item Short-Form Health Survey (SF-36) and the Non Motor Symptoms Questionnaire (NMSQuest).

Disability and profiles of functioning of patients with Parkinson's disease described with ICF classification.

The objective of this study was to describe the functional profiles of patients with Parkinson's disease (PD), and the relationships between impairment in body functions, limitations in activities, and environmental factors, using the World Health Organization's International Classification of Functioning, Disability, and Health (ICF). Patients were consecutively enrolled, and the ICF checklist was administered. Two count-based indices were developed: 'extension', containing ICF categories rated with qualifiers 1-4 and 'severity', containing ICF categories rated with qualifiers 3-4.

In vivo evidence for GABA(A) receptor changes in the sensorimotor system in primary dystonia.

Background: Preclinical and clinical evidence suggests that impaired gamma-aminobutyric (GABA) control, leading to disinhibition within the sensorimotor system, might play a role in dystonia. Aim of this study is the in vivo assessment of the GABAergic system in dystonia using positron emission tomography (PET) and (11) C-flumazenil, a selective GABA(A) receptor ligand.

Methods: Fourteen subjects with primary dystonia (9 carriers of the DYT1 mutation and 5 sporadic cases) were compared to 11 controls, using a simplified reference tissue model to measure binding potential.

Functioning and disability in Parkinson's disease.

Objective: To describe functioning and disability of patients with Parkinson's Disease (PD) according to the model endorsed by the International Classification of Functioning Disability and Health (ICF).

Design: Adult PD patients were consecutively enrolled. The ICF checklist and the WHO Disability Assessment Schedule II (WHO-DAS II) were administered in individual sessions.

Impaired awareness of movement disorders in Parkinson's disease.

Background: This study analyzed the presence of awareness of movement disorders (dyskinesias and hypokinesias) in 25 patients with Parkinson's disease (PD) and motor fluctuations (dyskinesias, wearing off, on-off fluctuations). Of the few studies that have dealt with this topic, none have analyzed the differences in the awareness of motor deficits by comparing the on and off states using motor scales and an extensive battery of tests to assess cognitive and behavioral functioning.

Methods: PD patients were compared on three different scales that we have devised to measure awareness of movement disorders: Global Awareness of Movement (GAM) Disorders, dyskinesia/hypo-bradykinesia rating scales.