Neurological Sciences

Correction to: Effect of taping on scapular kinematics of patients with facioscapulohumeral muscular dystrophy The published version of this article unfortunately contained a mistake in Fig. 2. Only one graphic of different movement of scapula was published instead of three. The Figure is corrected here.

Incidence and prevalence of Parkinson's disease in the Italian region of Umbria: a population-based study using healthcare administrative databases Abstract Parkinson's disease is known to pose a significant burden on society in industrialized countries. However, few studies have been conducted in Italy using administrative healthcare databases for epidemiological purposes. We wanted to estimate the incidence and prevalence rates of Parkinson's disease in the Italian region of Umbria by means of linkage between several sources of administrative healthcare data: hospitalization episodes, exemptions from medical charges, drug prescriptions from general practitioners and physicians working in the public sector. Using a pre-defined algorithm, we estimated incident and prevalent cases of Parkinson's disease for the year 2016. The regional incidence rate, adjusted with Italian standard population data, was 0.40 new cases/1000 person-years (0.41 in females, 0.39 in males). We estimated that 5550 subjects were affected by Parkinson's disease, leading to an age-adjusted prevalence rate of 5.42/1000 inhabitants. Prevalence and incidence increased with age and male gender. However, due to the longer life expectancy of females, the absolute number of prevalent cases was greater among females. The heterogeneity of spatial distribution of disease was high. A considerable proportion of prevalent cases was hospitalized in 2016. The most recurrent reasons for hospitalization episodes were disorders related to the nervous system, respiratory system, cardiovascular system, and musculoskeletal and connective tissue apparatus. The study findings support the feasibility of future epidemiological studies of Parkinson's disease with administrative data as well as the need for an integrative care pathway for the patients with Parkinson's disease.

Sexual abuse and psychogenic nonepileptic seizures Abstract Objective We investigated the frequency of reported sexual abuse in patients with psychogenic nonepileptic seizures (PNES) in a Middle-Eastern culture (Iran) and tried to characterize the association between a history of sexual abuse and the clinical characteristics of PNES in these patients. Methods In this retrospective database study, patients with PNES, who were investigated at Shiraz Comprehensive Epilepsy Center at Shiraz University of Medical Sciences, from 2008 until 2018, were studied. Patients were categorized into two groups: (1) those with a history of sexual abuse and (2) those without such a history. Results A total of 314 patients were studied. Twenty-six patients (8.3%) had a history of sexual abuse, while 288 patients (91.7%) denied having such an experience. Sex ratio (OR: 3.53; 95% CI: 1.14–10.89; p = 0.02) and a history of child abuse (OR: 4.85; 95% CI: 1.82–12.96; p = 0.002) were significantly associated with a history of sexual abuse. Conclusion Some people with a history of sexual abuse are at risk of developing PNES later in their lives. While social, cultural, and even genetic predisposition may be interacting for such an association to come to play, there is no concrete direct evidence to clarify this link yet. This should be investigated in future international cross-cultural studies and also highlights the need for planning genetic studies in patients with PNES.

Neurosciences in the ninth art

Identification of a novel splice mutation in CTNNB1 gene in a Chinese family with both severe intellectual disability and serious visual defects Abstract The CTNNB1 gene encode the β-catenin protein which is a core unit of the cadherin/catenin multiprotein complex. The loss-of-function mutation of the CTNNB1 gene recently has been confirmed as a cause of intellectual disability. Previous studies have found that patients with CTNNB1 gene mutation may have other clinical manifestation such as microcephaly, abnormal facial features, motor and language delays, and mild visual defects. Here, we reported a 27-year-old Chinese pregnant woman with a severe intellectual disability and serious visual defects who was detected with a novel splice mutation (c.734+1G>A) in CTNNB1 gene by whole-exome sequencing and confirmed by Sanger sequencing. Further investigation showed that the variant was inherited from her mother with similar phenotypes. This report not only helps to expand the mutant spectrum of the CTNNB1 gene but also prompts a new insight into genetic diagnosis in patients with both serious intellectual disability and visual defects.

Highlights of the issue 8, 2019

Identification of a novel NOTCH3 mutation in an Italian family affected by a mild form of CADASIL

Carrier frequency of spinal muscular atrophy in Thailand Abstract Spinal muscular atrophy (SMA) is one of the leading causes of death in infants and young children from heritable diseases. Patients diagnosed with SMA develop symmetrical progressive muscle weakness and atrophy from degeneration of alpha motor neurons. Approximately 95% of patients have a homozygous deletion of survival motor neuron 1 (SMN1) gene in exon 7 and inherited in autosomal recessive pattern. Considering the high prevalence of SMA carrier in many population, it is possible that SMA is one of the most common autosomal recessive disorders in Thailand and Southeast Asia. In this study, we analyzed DNA from peripheral blood of 505 healthy Thai adults using quantitative PCR-based for SMN1 gene exon 7 copy number analysis. Individual samples with heterozygous deletion of SMN1 gene were confirmed with MLPA. The result identified 9 samples (1.78%) with heterozygous deletion and 39 samples as more than 2 copies of SMN1. No homozygous deletion was detected in the samples. In conclusion, we established carrier frequency of SMA in selected Thai population at 1.8% from 505 participants. The prevalence coincides with prevalence in East Asia and Caucasian population. The result could be implemented for SMA carrier screening in couples at risk in the region.

Choosing Wisely: five recommendations related to tests, treatments, and procedures at risk of inappropriateness in the cure of Parkinson's disease (LIMPE-DISMOV Academy)

Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation Abstract Mitochondrial tRNAs are responsible for more than half of pathogenic point mutations in the mitochondrial genome (mtDNA). Different mutations give rise to widely differing phenotypes, ranging from isolated organ-specific diseases to multisystem conditions. Herein, we report a 40-year-old woman presenting with a complex multisystem phenotype including sensorineural hearing loss, retinopathy, severe dilated cardiomyopathy, non-insulin dependent diabetes mellitus, and renal failure. Sequence analysis of mtDNA identified the m.5522G>A mutation in MT-TW, the gene encoding mitochondrial tRNA for tryptophan. The heteroplasmic variant, thus far described once, was almost exclusively confined to skeletal muscle tissue, as shown by massive parallel sequencing and corroborated by an ad hoc designed PCR-based strategy. This patient, presenting a severe, multisystem involvement apparently sparing the brain, contributes to the genetic heterogeneity of mitochondrial diseases caused by mutations in mitochondrial tRNAs.

Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182

6948891480

alsfakia@gmail.com