Analysis of the correlation between three methods used in the assessment of children with cerebral palsy

The primary aim of this study was to assess the correlations between gait analysis, magnetic resonance imaging (MRI), and Gross Motor Function Measure (GMFM) scores in children with cerebral palsy (CP). These common diagnostic tools were used to evaluate 21 children affected by CP (mean age: 6 years, range: 5-13 years; 8 females and 13 males; 5 left hemiplegics, 4 right hemiplegics, 12 diplegics). In particular, in order to compare gait analysis data with other diagnostic evaluations, the Normalcy Index (NI) was used. The results showed a good correlation between the NI and the results of MRI, and between NI and the GMFM score (r=-0.76). Therefore, this investigation demonstrated that there exists a strong relationship between gait analysis and other clinical evaluation tool

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. We report on two patients with clinical diagnosis of Aicardi-Goutières syndrome in which brain MRI and CT scans demonstrated bilateral striatal necrosis. The diagnosis of Aicardi-Goutières syndrome in these two patients was genetically confirmed after the recent discovery that mutations in the ADAR1 (AGS6) gene may cause Aicardi-Goutières syndrome. This is the first report of bilateral striatal necrosis in association with Aicardi-Goutières syndrome. These results expand the neuroradiological phenotype of Aicardi-Goutières syndrom

Septo-optic dysplasia and psychiatric disorders: a case report

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. CONCLUSIONS: Developmental abnormalities due to disruption of the complex neural network linking the septum pellucidum with other limbic structures may have been involved in the affective and psychotic disturbances observed in our patient

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 lateonset subtypes (i.e., juvenile and adult), once considered rare manifestations of AxD, have displayed a wider clinical spectrum. Our aim was to evaluate the clinical phenotype of the adult and juvenile forms by reviewing the previously reported cases. Data were collected from previously published reports on 112 subjects affected by neuropathologically or genetically proven adult and juvenile Alexander disease. Although the late-onset forms of AxD show a wide clinical variability, a common pattern emerges from comparing previously reported cases, characterized by pseudobulbar signs, ataxia, and spasticity, associated with atrophy of the medulla and upper cervical cord on neuroimaging. Late-onset AxD cases can no longer be considered as rare manifestations of the disease. The clinical pattern usually reflects the topographic localization of the lesions, with adult cases displaying a predominant infratentorial localization of the lesions. Juvenile cases show clinical and radiological features which are intermediate between adult and infantile forms

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

Abstract 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. Results: Of the 2613 patients analyzed, 33 (1.26%) had upper cervical spine injuries, corresponding to 8.37% of the 394 patients with trauma-related findings. Of those 33 patients, 6 had C1 fractures and 27 had C2 fractures. The use of 16- and 128-slice scanners increased the CT dose by 25.0% and 23.7%, respectively. Conclusion: Inclusion of the C1-C2 region in head CT scans allowed us to identify upper cervical spine injuries in 1.26% of asymptomatic elderly patients with minor head trauma. The protocol evaluated helps detect potentially life-threatening injuries and could be adopted for routine use in elderly individuals with minor head trauma

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

Neurodegeneration with brain iron accumulation (NBIA) comprises a group of neurodegenerative disorders characterized by high brain content of iron and presence of axonal spheroids. Mutations in the PANK2 gene, which encodes pantothenate kinase 2, underlie an autosomal recessive inborn error of coenzyme A metabolism, called pantothenate kinase-associated neurodegeneration (PKAN). PKAN is characterized by dystonia, dysarthria, rigidity and pigmentary retinal degeneration. The pathogenesis of this disorder is poorly understood and, although PANK2 is a mitochondrial protein, perturbations in mitochondrial bioenergetics have not been reported. A knock-out (KO) mouse model of PKAN exhibits retinal degeneration and azoospermia, but lacks any neurological phenotype. The absence of a clinical phenotype has partially been explained by the different cellular localization of the human and murine PANK2 proteins. Here we demonstrate that the mouse Pank2 protein localizes to mitochondria, similar to its human orthologue. Moreover, we show that Pank2-defective neurons derived from KO mice have an altered mitochondrial membrane potential, a defect further corroborated by the observations of swollen mitochondria at the ultra-structural level and by the presence of defective respiration