The aim of this study was to compare cranial Magnetic Resonance (MR) imaging findings in cerebral palsy (CP) patients with clinical findings and evaluate damage ascribed to prenatal, natal and postnatal reasons by preterm, term or postterm characteristics. One thousand, one hundred CP patients registered at Dr. Ayten Bozkaya State Hospital of Cerebral Palsy Children and Rehabilitation Center from 2007 to 2010 were included in the study retrospectively. Cranial MR images studied in Bursa State Hospital Radiology Unit were evaluated by "a single senior MRI radiologist".The most common abnormality was cerebral atrophy (80.2%) followed by periventricular leukomalacia (PVL) (49.9%). The most common type was spastic tetraplegia (67.9%), and the second most common type was hypotonic CP (15.6%). The percentage of congenital central nervous system (CNS) abnormality was 14.09%. The most common abnormality was corpus callosum (CC) agenesis and colpocephaly (2.3%). The least common conditions were cortical dysplasia, heterotopia and rhombencephalosynapsis. The percentage of cases born to consanguineous parents was 19.2%. In Hypoxic Ischemic Encephalopathy (HIE) patients born to consanguineous parents, PVL was cystic and moderate. Consanguineous marriage was statistically significant in the patients with cortical dysplasia and heterotopia (p<0.04), delay in myelination (p<0.001) and thalamus involvement (p< 0.008). Consanguineous marriage was also statistically significant in spastic diparetic (p<0.017), hypotonic (p<0.001) and bedridden patients (p< 0.006). The presence of both congenital CNS anomaly and PVL was only revealed in spastic tetraparetic type. Twenty-nine% of the cases were premature, while 66.4% were term children. Low birth weight (32.7%) constituted a risk factor for all clinical types, except mixed type CP. The percentage of patients with natal causes only was 21.5%. Kernicterus, cerebrovascular causes and HIE accounted for 6.3%, 2.9% and 54.4% of the cases, respectively. This study may indicate the importance of consanguineous marriage, natal and postnatal care properties as the underlying causes of CP beyond the clinical management related to delivery and allow us to identify strategies for possible measures.

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In contrast to glycemic parameters, serum levels of sRAGE were negatively correlated with body measurements indicative of obesity in the prediabetic state. In addition, the negative correlation with LDL cholesterol levels suggests that sRAGE has a more robust association with metabolic syndrome than with prediabetes.

Introduction. Pathogenic variations in C19orf12 are responsible for two allelic diseases: mitochondrial membrane protein-associated neurodegeneration (MPAN); and spastic paraplegia type 43 (SPG43). MPAN is an orphan disease, which presents with spasticity, dystonia, peripheral nerve involvement, and dementia. The pattern of iron accumulation on brain MRI may be a clue for the diagnosis of MPAN. SPG43, on the other hand, is characterised by progressive lower limb spasticity without brain iron accumulation. We here present clinical and genetic findings of MPAN patients with potentially pathogenic C19orf12 variants. Materials and methods.Patients from 13 different families having progressive motor symptoms with irritative pyramidal signs and brain iron accumulation were screened for C19orf12 gene variants. results. C19orf12 screening identified seven variants associated with MPAN in eight patients from seven families. We associated two pathogenic variants (c.24G > C; p.(Lys8Asn) and c.194G > A; p.(Gly65Glu)) with the MPAN phenotype for the first time. We also provided a genetic diagnosis for a patient with an atypical MPAN presentation. The variant c.32C > T; p.(Thr11Met), common to Turkish adult-onset MPAN patients, was also detected in two unrelated late-onset MPAN patients.conclusions. Genetic analysis along with thorough clinical analysis supported by radiological findings will aid the differential diagnosis of MPAN within the neurodegeneration with brain iron accumulation spectrum as well as other disorders including hereditary spastic paraplegia. Dystonia and parkinsonism may not be the leading clinical findings in MPAN patients, as these are absent in the atypical case. Finally, we emphasise that the existence of frameshifting variants may bias the age of onset toward childhood.

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