Background and ObjectivesPurine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients.MethodsData on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging, and neurophysiologic features were obtained.ResultsA cohort of 142 patients was included. Characteristics of the PURA syndrome included neonatal hypotonia, feeding difficulties, and respiratory distress. Sixty percent of the patients developed epilepsy with myoclonic, generalized tonic-clonic, focal seizures, and/or epileptic spasms. EEG showed generalized, multifocal, or focal epileptic abnormalities. Lennox-Gastaut was the most common epilepsy syndrome. Drug refractoriness was common: 33.3% achieved seizure freedom. We found 97 pathogenic variants in PURA without any clear genotype-phenotype associations.DiscussionThe PURA syndrome presents with a developmental and epileptic encephalopathy with characteristics recognizable from neonatal age, which should prompt genetic screening. Sixty percent have drug-resistant epilepsy with focal or generalized seizures. We collected more than 90 pathogenic variants without observing overt genotype-phenotype associations.

The glial fibrillary acidic protein (GFAP) have been quantitatively determined in over 200 samples of liquid content of brain tumours and in cerebrospinal fluid (CSF) of cases with various tumours of the cerebral nervous system. For establishing the GFAP value, the rocket radioimmunoelectrophoresis was used. The studies were performed in three series of patients. The GFAP value of fluids from 26 cysts of both neoplastic and non-neoplastic type had a wide range of 0.6 microgram/ml to 40 micrograms/ml. Significant elevation of GFAP was usually recorded in fluid from cysts of anaplastic tumour with astroglial differentiation. In this series of 24 cases with various brain tumours, the GFAP value of the CSF ranged from 0.2 microgram/ml to 50 micrograms/ml. In gliomas, as in astrocytoma and glioblastoma, these values were on a higher level, of over 4 micrograms/ml. In other tumours and in cerebral lesions of other aetiology, the GFAP values were lower, below 3 micrograms/ml and 0.3 microgram/ml respectively. In another series of 32 patients with brain tumour treated surgically, a significant increase of GFAP (to 30 micrograms/ml) was noted in the CSF during the first week after operation, and that was always associated with an increase of the total protein of the CSF. During the second and third week after operation, when the total protein of the CSF was reduced to a normal level, the values of GFAP were still elevated, first of all in those cases of astrocytoma and glioblastoma which were not radically excised. These findings suggest that investigation of GFAP in the CSF of patients with brain tumour may be helpful in diagnosis and prognosis.