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1. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Author

Wolf, Nicole I, Vanderver, Adeline, van Spaendonk, Rosalina M L, Schiffmann, Raphael, Brais, Bernard, Bugiani, Marianna, Sistermans, Erik, Catsman-Berrevoets, Coriene, Kros, Johan M, Pinto, Pedro Soares, Pohl, Daniela, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Fribourg, Sébastien, Demos, Michelle, Pizzino, Amy, Naidu, Sakkubai, Guerrero, Kether, van der Knaap, Marjo S, Bernard, Geneviève, Wolf, Nicole I, Vanderver, Adeline, van Spaendonk, Rosalina M L, Schiffmann, Raphael, Brais, Bernard, Bugiani, Marianna, Sistermans, Erik, Catsman-Berrevoets, Coriene, Kros, Johan M, Pinto, Pedro Soares, Pohl, Daniela, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Fribourg, Sébastien, Demos, Michelle, Pizzino, Amy, Naidu, Sakkubai, Guerrero, Kether, van der Knaap, Marjo S, and Bernard, Geneviève

Abstract

OBJECTIVE: To study the clinical and radiologic spectrum and genotype-phenotype correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy caused by mutations in POLR3A or POLR3B. METHODS: We performed a multinational cross-sectional observational study of the clinical, radiologic, and molecular characteristics of 105 mutation-proven cases. RESULTS: The majority of patients presented before 6 years with gross motor delay or regression. Ten percent had an onset beyond 10 years. The disease course was milder in patients with POLR3B than in patients with POLR3A mutations. Other than the typical neurologic, dental, and endocrine features, myopia was seen in almost all and short stature in 50%. Dental and hormonal findings were not invariably present. Mutations in POLR3A and POLR3B were distributed throughout the genes. Except for French Canadian patients, patients from European backgrounds were more likely to have POLR3B mutations than other populations. Most patients carried the common c.1568T>A POLR3B mutation on one allele, homozygosity for which causes a mild phenotype. Systematic MRI review revealed that the combination of hypomyelination with relative T2 hypointensity of the ventrolateral thalamus, optic radiation, globus pallidus, and dentate nucleus, cerebellar atrophy, and thinning of the corpus callosum suggests the diagnosis. CONCLUSIONS: 4H is a well-recognizable clinical entity if all features are present. Mutations in POLR3A are associated with a more severe clinical course. MRI characteristics are helpful in addressing the diagnosis, especially if patients lack the cardinal non-neurologic features.

Published
2014

3. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Author

Wolf, Nicole I., Vanderver, Adeline, Van Spaendonk, Rosalina M. L., Schiffmann, Raphael, Brais, Bernard, Bugiani, Marianna, Sistermans, Erik, Catsman-Berrevoets, Coriene, Kros, Johan M., Pinto, Pedro Soares, Pohl, Daniela, Tirupathi, Sandya, Strømme, Petter, Grauw, Ton de, Fribourg, Sébastien, Demos, Michelle, Pizzino, Amy, Naidu, Sakkubai, Guerrero, Kether, and Van der Knaap, Marjo S.

Published
2014
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4. Clinical spectrum of 4H leukodystrophy caused by POLR3Aand POLR3Bmutations

Author

Wolf, Nicole I., Vanderver, Adeline, van Spaendonk, Rosalina M.L., Schiffmann, Raphael, Brais, Bernard, Bugiani, Marianna, Sistermans, Erik, Catsman-Berrevoets, Coriene, Kros, Johan M., Pinto, Pedro Soares, Pohl, Daniela, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Fribourg, Sébastien, Demos, Michelle, Pizzino, Amy, Naidu, Sakkubai, Guerrero, Kether, van der Knaap, Marjo S., and Bernard, Geneviève

Published
2014
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5. [Subocclusive transvenous approach of dural arteriovenous fistula].

Author

Pinto PS, Moreira B, Alves V, Caixeiro T, Stocker A, Cruz R, and Xavier J

Subjects
Adult, Female, Humans, Male, Middle Aged, Veins, Central Nervous System Vascular Malformations therapy, Embolization, Therapeutic methods
Abstract

Introduction: Dural arteriovenous fistulae (DAVF) are usually acquired and when presented with cortical venous drainage are associated with high risk of hemorrhage. They can be treated by arterial or venous embolization, by surgery or by the combination of both techniques. Transvenous approach induces venous sinus thrombosis increasing the risk of venous stroke and/or hemorrhage., Objective: Review of all the cases of transvenous embolization of lateral sinus arteriovenous fistulas treated in our department. Our main objective is to evaluate the clinical/imaging results of this treatment and the second goal is to discuss possible advantages of the subocclusive approach in the first session of transvenous treatment., Results: The authors present six clinical cases of DAVF with the following clinical symptoms: visual disturbances (3); ear pulsatile bruit (3); headaches (2); subarachnoid hemorrhage (1); subjective hearing loss (1); optic disc edema (1); hemiparesis (1). Angiographic classification was: Cognard IIa, (3), IIab (2) e IV (1), all of the lateral sinus. The main afferent branches arised from: ipsilateral ECA (6); ipsilateral ICA (6); ipsilateral VA (6); contralateral ECA (5); contralateral VA (5); contralateral ICA (3); ipsilateral PCA (1). Transarterial approach was the first approach in all patients with satisfactory but transient results. It was always followed by transvenous embolization of the lateral sinus with GDC coils. Subocclusive approach was achieved in five patients with the persistence of some afferent arteries. Follow-up angiography in four of them showed "spontaneous" thrombosis of the lateral sinus with clinical and angiographic cure. Thrombosis occurred once during the initial transvenous procedure. There were no complications or new neurological signs or symptoms in any patient., Conclusions: Transvenous treatment of DAVF has led to technical and clinical success without procedure complications. We think that subocclusive approach of the venous sinus with coils can cause less hemodynamic changes with a slower thrombosis rate and less complications, unchanging the angiographic and clinical resolution.

Published
2011

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