Limbic neurochemical changes in patients with functional motor symptoms.

Objective: To assess by magnetic resonance spectroscopy (MRS) the -acetylaspartate, myo-inositol, choline, sum of glutamate and glutamine (Glx), and creatine (Cr) content in the anterior cingulate cortex (ACC)/medial prefrontal cortex (mPFC) and in the occipital cortex (OCC) (control region) in patients with functional motor symptoms (FMS) and healthy controls, and to determine whether neurochemical limbic changes as estimated by MRS correlate with FMS-related motor symptom severity, alexithymia, anxiety, depression, and quality of life.

Methods: This case-control study enrolled 10 patients with FMS and 10 healthy controls. Participants underwent MRS and were tested with the Mini-Mental State Examination, Hamilton Depression Rating Scale, Hamilton Anxiety Rating Scale, 20-Item Toronto Alexithymia Scale, and EuroQol 5D.

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

Aicardi-Goutières syndrome (AGS) is a genetically determined early onset encephalopathy characterized by cerebral calcification, leukodystrophy, and increased expression of interferon-stimulated genes (ISGs). Up to now, seven genes () have been associated with an AGS phenotype. Next Generation Sequencing (NGS) analysis was performed on 51 AGS patients and interferon signature (IS) was investigated in 18 AGS patients and 31 healthy controls.

Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications.

Background: Aicardi-Goutières syndrome (AGS) is a rare genetic leukoencephalopathy related to inappropriate activation of type I interferon. Neuroradiological findings are typically characterized by white matter abnormalities, cerebral atrophy and cerebral calcification. The disease usually manifests itself during the first year of life in the form of an initial "encephalitic-like" phase followed by a chronic phase of stabilization of the neurological signs.

C1-C2 fractures in asymptomatic elderly patients with minor head trauma: evaluation with a dedicated head CT protocol.

Objective: To evaluate the frequency and types of upper cervical spine injuries in asymptomatic elderly patients undergoing computed tomography (CT) for the investigation of minor head trauma.

Materials And Methods: This was a prospective study of 2613 asymptomatic elderly patients with minor head trauma seen between January 2015 and December 2016. We adopted a dedicated head CT protocol that included the C1-C2 region.

Parry-Romberg syndrome: conventional and advanced MRI follow-up in a boy.

We studied a 9-year-old boy, affected with the Parry-Romberg syndrome, during a period of 32 months, by means of clinical evaluations and neuroradiological magnetic resonance imaging. Over this time we observed a clinical progression of the cutaneous disease without a simultaneous progression of the neurological alterations. Conventional and advanced magnetic resonance imaging techniques showed white matter alterations which proved to be stable during the follow-up.

Magnetic resonance imaging in central nervous system vasculitis in a patient affected by crioglobulin-negative hepatitis C virus infection: A likely correlation.

A 56-year-old man with behavioural disorders and facial-brachio-crural right hemiparesis presented with a brain lesion studied with computed tomography, magnetic resonance imaging and brain biopsy, leading to the diagnosis of cerebral vasculitis. Hepatitis C virus (HCV) infection in a phase of activity, without cryoglobulins, was also detected. Brain biopsy, laboratory analysis and response to a specific therapy supported the diagnosis of central nervous system vasculitis that was HCV related.

Migraine with aura and white matter lesions: an MRI study.

Several studies report the presence of white matter lesions on brain magnetic resonance imaging in patients with migraine. The aim of our study was to detect the entity of white matter T2-hyperintensities in 90 high selected patients affected by migraine with aura, compared to a group of 90 healthy controls. We found no significant difference of incidence of white matter alterations comparing these two groups.

Bilateral transfer phenomenon: A functional magnetic resonance imaging pilot study of healthy subjects.

Background: The bilateral transfer of a motor skill is a physiological phenomenon: the development of a motor skill with one hand can trigger the development of the same ability of the other hand.

Objective: The purpose of this study was to verify whether bilateral transfer is associated with a specific brain activation pattern using functional magnetic resonance imaging (fMRI).

Methods: The motor task was implemented as the execution of the Nine Hole Peg Test.

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome.

Objective: To perform an updated characterization of the neuroradiologic features of Aicardi-Goutières syndrome (AGS).

Methods: The neuroradiologic data of 121 subjects with AGS were collected. The CT and MRI data were analyzed with a systematic approach.

Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.

Aicardi-Goutières syndrome is an inherited leukodystrophy with calcifying microangiopathy and abnormal central nervous system myelination. As fewer diagnostic computed tomographic (CT) scans are being performed due to increased availability of magnetic resonance imaging (MRI), there is a potential for missed diagnoses on the basis of calcifications. We review a series of patients with MRIs selected from IRB-approved leukodystrophy biorepositories to identify MRI patterns for recognition of early-onset Aicardi-Goutières syndrome and scored for a panel of radiologic predictors.

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

Aicardi-Goutières syndrome (AGS) is a genetic inflammatory disease. The classic neuroradiological picture mimics that of congenital infections in that Aicardi-Goutières syndrome is characterized by leukoencephalopathy, brain atrophy and intracranial calcifications. To date, bilateral striatal necrosis has not been reported in patients with AGS.

Benefit of doxycycline treatment on articular disability caused by dialysis related amyloidosis.

Abstract Doxycycline inhibits amyloid formation in vitro and its therapeutic efficacy is under evaluation in clinical trials for different protein conformational diseases, including prion diseases, Alzheimer's disease and transthyretin amyloidosis. In patients on chronic hemodialysis, a persistently high concentration of β2-microglobulin causes a form of amyloidosis (dialysis-related amyloidosis, DRA) localized in bones and ligaments. Since doxycycline inhibits β2-microglobulin fibrillogenesis in vitro and accumulates in bones, DRA represents an ideal form of amyloidosis where doxycycline may reach a therapeutic concentration at the site of amyloid deposition.

Spinal cord calcification in an early-onset progressive leukoencephalopathy.

Spinal cord calcifications are an unusual finding in pediatric neurology. We here describe a young child who presented severe psychomotor delay, tetraplegia, deafness, and anemia. Neuroradiological investigations revealed severe leukodystrophy and unusual calcifications in the cerebral white matter and all along the medullary pathways.

The clinical spectrum of late-onset Alexander disease: a systematic literature review.

Following the discovery of glial fibrillary acidic protein (GFAP) mutations as the causative factor of Alexander disease (AxD), new case reports have recently increased, prompting a more detailed comprehension of the clinical features of the three disease subtypes (infantile, juvenile and adult). While the clinical pattern of the infantile form has been substantially confirmed, the late-onset subtypes (i.e.

Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma.

Hypothalamic hamartoma is a rare developmental non-neoplastic malformation, often characterised by early onset gelastic seizures and later progressive cognitive and behavioural deterioration. In this case study, we have examined a child who presented with an atypical onset of benign paroxysmal gaze deviation between two to three months of age. The patient subsequently developed gelastic seizures at age 13.

New case of 4H syndrome and a review of the literature.

Different pathologic processes (especially demyelination, hypomyelination, and combinations of these) may underlie leukoencephalopathies. Leukoencephalopathies pose a particular diagnostic problem when they occur in children. To seek associated, non-neurologic signs is of fundamental importance in hypomyelinating leukoencephalopathies, because these can help clarify the diagnostic picture.

Clinical, radiological, and biochemical features of a bilateral buttock amyloidoma emerging after 27 years of hemodialysis.

Deposition of amyloid in the buttock is a rare complication of dialysis related amyloidosis (DRA), but this localization is even rarer in other types of amyloidoses. We report here the clinical, radiological, and biochemical features of a patient who incurred into this complication after 27 years of hemodialysis. Imaging of the amyloid deposition by magnetic resonance imaging (MRI) documents the amyloid infiltration in the muscles of the buttock region and highlights a peculiar feature of amyloid fibrils deposition in the subcutaneous fat.

Cognitive visual dysfunctions in preterm children with periventricular leukomalacia.

Aim: Cognitive visual dysfunctions (CVDs) reflect an impairment of the capacity to process visual information. The question of whether CVDs might be classifiable according to the nature and distribution of the underlying brain damage is an intriguing one in child neuropsychology.

Method: We studied 22 children born preterm (12 males, 10 females; mean age at examination 8y, range 6-15y; mean gestational age 30wks, range 28-36wks) with periventricular leukomalacia, spastic diplegia, normal intelligence (mean Full-scale IQ 84; mean Verbal IQ 97; mean Performance IQ 74), and normal visual acuity, focusing on higher visual functions.

Septo-optic dysplasia and psychiatric disorders: a case report.

Background: Septo-optic dysplasia, a variable combination of abnormalities of cerebral midline structures, is a clinically heterogeneous syndrome in which the midline defects may be implicated in psychiatric disturbances.

Objective: To describe a case of septo-optic dysplasia associated with depression and psychosis and to discuss the role of these developmental abnormalities in psychiatric disturbances.

Methods: The patient's clinico-anamnestic, neuroradiologic, neuropsychiatric, endocrinologic, ophthalmologic, and genetic profile was evaluated.