IMPORTANCE Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a frequent cause of adult-onset leukodystrophy known to be caused by autosomal dominant mutations in the CSF1R (colony-stimulating factor 1) gene. The discovery that CSF1R mutations cause ALSP led to more accurate prognosis and genetic counseling for these patients in addition to increased interest in microglia as a target in neurodegeneration. However, it has been known since the discovery of the CSF1R gene that there are patients with typical clinical and radiologic evidence of ALSP who do not carry pathogenic CSF1R mutations. These patients include those in whom the pathognomonic features of axonal spheroids and pigmented microglia have been found. Achieving a genetic diagnosis in these patients is important to our understanding of this disorder.OBJECTIVE To genetically characterize a group of patients with typical features of ALSP who do not carry CSF1R mutations. DESIGN, SETTINGS, AND PARTICIPANTSIn this case series study, 5 patients from 4 families were identified with clinical, radiologic, or pathologic features of ALSP in whom CSF1R mutations had been excluded previously by sequencing.

İdiyopatik intrakraniyal hipertansiyonun -diğer adıyla psödotümör serebrininpatofizyolojisi üzerine bir güncelleme SummaryIdiopathic intracranial hypertension (IIH) is a syndrome characterized by increased intracranial pressure of unknown cause, leading to severe headache, papilledema and visual disturbances. Its former name, pseudotumor cerebri, has gained popularity recently. The strongest and most consistent risk factors of IIH are obesity and female gender. Infrequently, IIH may present in the absence of papilledema showing a headache profile similar to chronic daily headache with migrainous features. There have been several proposed mechanisms to explain the etiology of this disorder associated with various clinical conditions. In recent years, some inflammatory factors, natriuretic peptides and aquaporins have been proposed as possible contributors of the pathogenesis. On the other hand, some investigators have reported that bilateral transverse sinus stenosis is seen in the majority of IIH patients; therefore, dural sinus stent placement is used in some patients. No single theory has been able to provide a comprehensive answer, and there is no consensus about the exact cause of IIH. The aim of this review was to discuss the new insights on the mysterious pathogenesis of IIH.

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Neurological complications of inflammatory bowel diseases (i.e., ulcerative colitis and Crohn's disease) can be summarized as a combination of neuromuscular manifestations, cerebrovascular and demyelinating diseases that can be seen in approximately 3% of patients. In addition, asymptomatic cerebral white matter lesions may be detected in these patients. Clustering of diseases within families may be explained by the exposure to similar environmental factors, shared genes, or complex interactions between genetic and environmental factors. Here we report an epileptic patient with Crohn's disease and cerebral white matter lesions, a family with ulcerative colitis and multiple sclerosis and two patients who have both multiple sclerosis and Crohn's disease.

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