Search Our Scientific Publications & Authors

J Neuroophthalmol 2018 Jun 19. Epub 2018 Jun 19.

Oxford Eye Hospital (SLP, ZS, JSE), John Radcliffe Hospital, Headley Way, Headington Oxford, United Kingdom; Department of Neurology (BE, AP), John Radcliffe Hospital; and Oxford Centre for Genomic Medicine (DH), Nuffield Orthopaedic Hospital, Oxford, United Kingdom.

Objective: Neurofibromatosis type 2 (NF2) is an uncommon but well-recognized disorder characterized by multiple schwannomas and meningiomas. Adults typically present with hearing loss and balance disturbance, and children with ocular, dermatological, and neurological signs. Clinical diagnosis is confirmed by neuroimaging and genetic testing. Read More

Otol Neurotol 2018 Jun 15. Epub 2018 Jun 15.

Department of Otolaryngology-Head and Neck Surgery.

Objective: To describe the incidence of intralabyrinthine schwannoma (ILS) utilizing the Rochester Epidemiology Project (REP), a unique medical consortium in the United States that covers a complete population of all ages in a well-defined geographic area over the past half-century.

Patients: All patients with ILS diagnosed between January 1, 1966 and December 31, 2016 in Olmsted County, Minnesota, identified using the REP medical records-linkage system.

Main Outcome Measures: Incidence of ILS. Read More

J Neurol Neurosurg Psychiatry 2018 Jun 16. Epub 2018 Jun 16.

Department of Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.

Objectives: Schwannomatosis is a dominantly inherited condition predisposing to schwannomas of mainly spinal and peripheral nerves with some diagnostic overlap with neurofibromatosis-2 (NF2), but the underlying epidemiology is poorly understood. We present the birth incidence and prevalence allowing for overlap with NF2.

Methods: Schwannomatosis and NF2 cases were ascertained from the Manchester region of England (population=4. Read More

J Cell Physiol 2018 Jun 15. Epub 2018 Jun 15.

Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania.

Malignant mesothelioma (MM) is a therapy-resistant cancer arising primarily from the lining of the pleural and peritoneal cavities. The most frequently altered genes in human MM are cyclin-dependent kinase inhibitor 2A (CDKN2A), which encodes components of the p53 (p14ARF) and RB (p16INK4A) pathways, BRCA1-associated protein 1 (BAP1), and neurofibromatosis 2 (NF2). Furthermore, the p53 gene (TP53) itself is mutated in ~15% of MMs. Read More

World Neurosurg 2018 Jun 11. Epub 2018 Jun 11.

Professor and Head of Department, Dept. of Neurosurgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Electronic address:

Background: Resection of a vestibular schwannoma may result in facial paralyiss and hearing loss on the side of tumor. Authors have encountered a young female of neurofibromatosis type 2, who developed contralateral side sensorineural hearing loss immediately after resection of vestibular schwannoma.The patient regained partial hearing with a short course (2 months) of steroid therapy over 6 month. Read More

J Pediatr Neurosci 2018 Jan-Mar;13(1):74-77

Department of Neurology, Institute of Human Behaviour and Allied Sciences (IHBAS), New Delhi, India.

Neurofibromatosis type 2 is a rare neurocutaneous syndrome characterized by the development of multiple nervous system tumors. This disorder is also called multiple inherited schwannomas, meningiomas, and ependymomas syndrome. In this report, we discuss the clinical and magnetic resonance imaging findings in a 17-year-old patient with neurofibromatosis type 2, who had extensive cranial nerves involvement (3rd-12th cranial nerves) along with spinal involvement. Read More

PLoS One 2018 13;13(6):e0197350. Epub 2018 Jun 13.

Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States of America.

Neurofibromatosis 2 (NF2) is a rare tumor suppressor syndrome that manifests with multiple schwannomas and meningiomas. There are no effective drug therapies for these benign tumors and conventional therapies have limited efficacy. Various model systems have been created and several drug targets have been implicated in NF2-driven tumorigenesis based on known effects of the absence of merlin, the product of the NF2 gene. Read More

Oper Neurosurg (Hagerstown) 2018 Jun 5. Epub 2018 Jun 5.

Department of Neurological Surgery, Neurological Institute, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, Ohio.

This 3-dimensional operative video illustrates resection of 2 cervical spine schwannomas in a 19-yr-old female with neurofibromatosis type 2. The patient presented with lower extremity hyperreflexity and hypertonicity. Magnetic resonance imaging (MRI) demonstrated 2 contrast-enhancing intradural extramedullary cervical spine lesions causing spinal cord compression at C4 and C5. Read More

Adv Otorhinolaryngol 2018 6;81:93-104. Epub 2018 Apr 6.

Bilateral vestibular schwannomas are almost pathognomonic of neurofibromatosis type 2 (NF2). As a result of these tumors, hearing loss is the presenting symptom in 60% of adults and 30% of children with NF2. It is often bilateral. Read More

Dev Med Child Neurol 2018 May 21. Epub 2018 May 21.

Department of Neurology, Great Ormond Street Children's Hospital, London, UK.

Unlike adult neurofibromatosis type 2 (NF2), which presents with symptoms related to bilateral vestibular schwannomas, children with NF2 most frequently present with ocular, dermatological, and neurological symptoms. Arteriopathy, a well-established feature in neurofibromatosis type 1, is not a widely recognized feature of NF2. Here we report three children with NF2 with cerebral arteriopathy and/or arterial ischaemic stroke. Read More

Interdiscip Neurosurg 2017 Dec;10:142-145

Department of Neurological Surgery, Massachusetts General Hospital, Boston, MA, United States.

The aim of the present paper is to report undiagnosed sporadic neurofibromatosis type 2 presenting with symptomatic compressive spinal tumors following pregnancy. A 36-year-old woman experienced progressive, severe lumbar radicular pain in the second trimester of pregnancy which became intractable soon after delivery. Magnetic resonance imaging revealed a complex heterogeneous hypointense mass lesion around the conus. Read More

F1000Res 2018 24;7. Epub 2018 Apr 24.

Northwestern University Feinberg School of Medicine, Chicago, USA.

Meningiomas are the most common adult primary intracranial tumor. Despite their higher incidence, there have not-until recently-been as many advances in understanding and managing meningiomas. Thus far, two broad classes of meningiomas have emerged on the basis of their mutational profile: those driven by neurofibromatosis 2 (NF2) inactivation and those with non-NF2 driver gene alterations, such as mammalian target of rapamycin and Hedgehog, Wingless/b-catenin, Notch, transforming growth factor-b receptor, mitogen-activated protein kinase, and phospholipase C pathway alterations. Read More

Fam Cancer 2018 May 14. Epub 2018 May 14.

Department of Medical Genetics, St Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.

Neurofibromatosis type 2 (NF2) is associated with the development of several types of benign nervous system tumours, while malignancies are rare. We report a 22-year-old man who presented with retroperitoneal and spinal high-grade sarcomas with epithelial features. Samples showed a mixed epithelioid and spindled cell content with little associated matrix and inconclusive immunochemistry. Read More

Neurochirurgie 2018 May 10. Epub 2018 May 10.

Service de neurochirurgie, hôpital Pitié-Salpêtrière, AP-HP, 47-91, boulevard de l'Hôpital, 75013 Paris, France; Université Paris 6, Pierre-et-Marie-Curie, 75013 Paris, France. Electronic address:

Neurofibromatosis type 2 (NF2) confronts patients and their relatives with the dual issue of a progressive disease and disability. Deafness creates a brutal rupture in the patients' course of life, and other disabilities often follow in addition, that further deteriorates their quality of life. Hearing rehabilitation, via a cochlear implant and auditory brainstem implant, attempts to reduce the feeling of isolation and suffering due to communication impairment. Read More

Oncol Lett 2018 May 9;15(5):6825-6830. Epub 2018 Mar 9.

Department of Pathology and Laboratory Medicine, Showa University School of Medicine, Tokyo 142-8555, Japan.

Gene mutations are involved in the development of malignant mesothelioma. Important mutations have been identified in the genes for cyclin-dependent kinase inhibitor 2A (p16) alternative reading frame, breast cancer-associated protein 1 () and neurofibromatosis type 2 (). Previously, the utility of detecting the loss of by immunohistochemistry (IHC) and p16-deletion by fluorescence hybridization has been identified in several studies. Read More

PLoS One 2018 1;13(5):e0196726. Epub 2018 May 1.

Institute of Anatomy, Anatomy and Cell Biology, Bonn, Germany.

The neurofibromatosis type 2 (NF2) tumor suppressor protein Merlin functions as a negative regulator of cell growth and actin dynamics in different cell types amongst which Schwann cells have been extensively studied. In contrast, the presence and the role of Merlin in oligodendrocytes, the myelin forming cells within the CNS, have not been elucidated. In this work, we demonstrate that Merlin immunoreactivity was broadly distributed in the white matter throughout the central nervous system. Read More

Development 2018 04 30;145(9). Epub 2018 Apr 30.

Massachusetts General Hospital Cancer Center, Charlestown, MA 02129, USA

The architecture of individual cells and cell collectives enables functional specification, a prominent example being the formation of epithelial tubes that transport fluid or gas in many organs. The intrahepatic bile ducts (IHBDs) form a tubular network within the liver parenchyma that transports bile to the intestine. Aberrant biliary 'neoductulogenesis' is also a feature of several liver pathologies including tumorigenesis. Read More

Medicine (Baltimore) 2018 Apr;97(17):e0270

Department of Neurosurgery, The Affiliated Bayi Brain Hospital, The PLA Army General Hospital, Beijing, China.

Most patients diagnosed with neurofibromatosis type 2 (NF2) have bilateral vestibular schwannomas (VS). Through reviewing surgical method and clinical outcomes, we tried to find out a strategy for treatments in NF2 patients with VS.We retrospectively reviewed patients diagnosed pathological NF2 and have had microsurgery (MS) for VS in the PLA Army General Hospital. Read More

Expert Rev Mol Diagn 2018 Jun 27;18(6):577-586. Epub 2018 Apr 27.

a Laboratório de Medicina Genômica - Centro de Pesquisa Experimental , Hospital de Clínicas de Porto Alegre , Porto Alegre , Brazil.

Objectives: Neurofibromatoses (type 1: NF1; type 2: NF2) are autosomal dominant tumor predisposition syndromes mostly caused by loss-of-function mutations in the tumor suppressor genes NF1 and NF2, respectively. Genotyping is important for correct diagnosis of these diseases. The authors aimed to characterize NF1 and NF2 variants in patients from Southern Brazil. Read More

Asian J Neurosurg 2018 Apr-Jun;13(2):428-430

Department of Neurosurgery, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.

Meningiomas are benign tumors origin from central nervous system. They usually involve cephalic, paravertebral soft tissues, skin and in rare cases in the ear, temporal bone, mandible, foot, lung, and mediastinum. In this case, we report an unusual case of meningioma which placed in the fourth ventricle. Read More

Am J Med Genet A 2018 May;176(5):1258-1269

Hereditary Cancer Group, The Institute for Health Science Research Germans Trias i Pujol (IGTP)-PMPPC, Barcelona, Spain.

Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). The 2016 edition constituted a blend of clinical and basic aspects of NF research that helped in clarifying different advances in the field. The incorporation of next generation sequencing is changing the way genetic diagnostics is performed for NF and related disorders, providing solutions to problems like genetic heterogeneity, overlapping clinical manifestations, or the presence of mosaicism. Read More

Neurosurgery 2018 Apr 11. Epub 2018 Apr 11.

Vivian L. Smith Department of Neurosur-gery, University of Texas Health Science Center at Houston, Texas.

Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. Read More

Otol Neurotol 2018 Jun;39(5):632-638

Department of Neurology and Cancer Center, Massachusetts General Hospital, Boston, Massachusetts.

Objective: Assess patient-reported outcomes (PRO) for hearing and tinnitus relative to clinical hearing assessment in people with neurofibromatosis 2 (NF2) associated hearing loss.

Study Design: Prospective, open label, phase-II clinical trial with PRO administered pre-, post-, and after treatment.

Setting: Three tertiary referral centers. Read More

Nat Commun 2018 Apr 6;9(1):1338. Epub 2018 Apr 6.

Department of Integrative Structural and Computational Biology, The Scripps Research Institute, Jupiter, FL, 33458, USA.

Neurofibromatosis type 2 (NF2) is a tumor-forming disease of the nervous system caused by deletion or by loss-of-function mutations in NF2, encoding the tumor suppressing protein neurofibromin 2 (also known as schwannomin or merlin). Neurofibromin 2 is a member of the ezrin, radixin, moesin (ERM) family of proteins regulating the cytoskeleton and cell signaling. The correlation of the tumor-suppressive function and conformation (open or closed) of neurofibromin 2 has been subject to much speculation, often based on extrapolation from other ERM proteins, and controversy. Read More

Anticancer Res 2018 04;38(4):2149-2154

Laboratory of Molecular Biology, Ophir Loyola Hospital, Belém, Brazil.

Background/aim: Individuals with type 2 Neurofibromatosis are predisposed for the appearance of schwannomas. In the present study we analyzed the loss of heterozygosity and mutations in the NF2 gene in patients with sporadic Schwannoma without Neurofibromatosis type 2.

Materials And Methods: We analyzed 39 patients with sporadic spinal schwannoma. Read More

Int J Mol Sci 2018 Mar 26;19(4). Epub 2018 Mar 26.

Division of Molecular Oncology, Aichi Cancer Center Research Institute, 1-1 Kanokoden, Chikusa-ku, Nagoya 464-8681, Japan.

The neurofibromatosis type 2 () gene encodes merlin, a tumor suppressor protein frequently inactivated in schwannoma, meningioma, and malignant mesothelioma (MM). The sequence of merlin is similar to that of ezrin/radixin/moesin (ERM) proteins which crosslink actin with the plasma membrane, suggesting that merlin plays a role in transducing extracellular signals to the actin cytoskeleton. Merlin adopts a distinct closed conformation defined by specific intramolecular interactions and regulates diverse cellular events such as transcription, translation, ubiquitination, and miRNA biosynthesis, many of which are mediated through Hippo and mTOR signaling, which are known to be closely involved in cancer development. Read More

World Neurosurg 2018 Jun 23;114:e883-e891. Epub 2018 Mar 23.

Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; China National Clinical Research Center for Neurological Diseases, Beijing, China; Center of Brain Tumor, Beijing Institute for Brain Disorders, Beijing, China; Beijing Key Laboratory of Brian Tumor, Beijing, China. Electronic address:

Objective: To investigate 10 candidate single nucleotide polymorphisms (SNPs) in 5 genes (CASP8, XRCC1, WRN, NF2, and BRIP1) to confirm the association between the 5 genes and the meningioma risk in a Chinese population.

Methods: We examined 10 candidate SNPs in 5 genes (CASP8, XRCC1, WRN, NF2, and BRIP1) to confirm the association between the 5 genes and the meningioma risk and tumor-related phenotype in 433 individuals, including 215 patients with meningioma and 218 controls.

Results: The polymorphisms rs4968451T>G in BRIP1 were significantly associated with the risk of meningioma (TT vs. Read More

Am J Med Genet A 2018 Apr;176(4):959-968

Department of Psychiatry, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts.

Parents of children with the neurofibromatoses (NF; neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis) are at an increased risk for emotional and physical health problems. This study aimed to determine parents' perceptions of stressors associated with parenting a child with NF in order to inform the development of a resiliency intervention. We conducted three live video semi structured focus groups with parents of youth with NF (N = 30), which were subsequently transcribed and coded using qualitative content analysis. Read More

Laryngoscope 2018 Mar 24. Epub 2018 Mar 24.

House Clinic, Los Angeles, California, U.S.A.

Objectives/hypothesis: To report a series of patients with neurofibromatosis type 2 (NF2), where each patient underwent both cochlear implantation and auditory brainstem implantation for hearing rehabilitation, and to discuss factors influencing respective implant success.

Study Design: Retrospective case series.

Methods: Ten NF2 patients with both cochlear implantations and auditory brainstem implantations were retrospectively reviewed. Read More

Oxf Med Case Reports 2018 Mar 12;2018(3):omy002. Epub 2018 Mar 12.

Department of Internal Medicine, SBH Health System, 4422 Third Ave, Bronx, NY 10457, USA.

Schwannomas most commonly manifest as acoustic neuromas in the vestibulo-cochlear nerve (CN VIII). These may occur unilaterally as primary tumors, or bilaterally secondary to neurofibromatosis type 2. More rarely, they present in extra-cranial sites, including the gastrointestinal tract. Read More

Disabil Rehabil 2018 Mar 20:1-7. Epub 2018 Mar 20.

a Oxford NF2 Unit, Department of Neurosciences , John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust , Oxford , UK.

Purpose: Patients with Neurofibromatosis type 2 often experience debilitating neuro-otological problems which affect their mobility and balance. This study examined the efficacy of a personalised program of vestibular rehabilitation for patients with Neurofibromatosis type 2.

Materials And Methods: An observational cohort study analysing routinely collected data for 21 patients in a highly specialised Neurofibromatosis type 2 service. Read More

Cell Death Differ 2018 Mar 19. Epub 2018 Mar 19.

Department of Gastroenterology, Institute of Surgery Research, Daping Hospital, Third Military Medical University (Army Medical University), 400042, Chongqing, China.

The evolutionarily conserved Hippo signaling pathway is a key regulator of stem cell self-renewal, differentiation, and organ size. While alterations in Hippo signaling are causally linked to uncontrolled cell growth and a broad range of malignancies, genetic mutations in the Hippo pathway are uncommon and it is unclear how the tumor suppressor function of the Hippo pathway is disrupted in human cancers. Here, we report a novel epigenetic mechanism of Hippo inactivation in the context of hepatocellular carcinoma (HCC). Read More

Semin Neurol 2018 Feb 16;38(1):73-85. Epub 2018 Mar 16.

Department of Neurology, University Hospital of Heidelberg, Heidelberg, Germany.

Neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis are a group of related classically inherited but often times sporadic tumor suppressor syndromes. Neuro-oncologists should recognize these syndromes, initiate necessary tests in patients with a clinical suspicion, and support genetic counseling of patients and families. In this review, clinical presentation, diagnostic criteria, day-to-day management including supportive care as well as updates on genetics, and experimental treatment strategies are discussed. Read More

Methods Mol Biol 2018 ;1739:161-173

Neuroscience Division, Burnett School of Biomedical Science, College of Medicine, University of Central Florida, Orlando, FL, USA.

Schwannomas are benign nerve tumors that occur sporadically in the general population and in those with neurofibromatosis type 2 (NF2), a tumor predisposition genetic disorder. NF2-associated schwannomas and most sporadic schwannomas are caused by inactivating mutations in Schwann cells in the neurofibromatosis type 2 gene (NF2) that encodes the merlin tumor suppressor. Despite their benign nature, schwannomas and especially vestibular schwannomas cause considerable morbidity. Read More

Arch Dis Child 2018 May 13;103(5):463-469. Epub 2018 Mar 13.

Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Trust, Oxford, UK.

Objective: Onset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric NF2 to raise awareness of early features, highlighting those requiring further investigation.

Design: Patients diagnosed with NF2 at age ≤16 and seen between 2012 and 2015 were notified via the British Paediatric Neurology Surveillance Unit or identified through the English NF2 service. Read More

Klin Monbl Augenheilkd 2018 Mar 13;235(3):290-300. Epub 2018 Mar 13.

Klinik und Poliklinik für Augenheilkunde, Justus-Liebig-Universität Gießen, Universitätsklinikum Gießen und Marburg, Standort Gießen.

Background: Neurofibromatosis type 2 (NF2) is a genetic condition with an autosomal dominant pattern of inheritance and incomplete penetrance. It is characterized by multiple benign tumors of the central and peripheral nervous system including astrocytomas, ependymomas, meningeomas, and schwannomas, among which bilateral vestibular schwannomas are the most frequent. Among ocular manifestations of NF2, juvenile subcapsular cataract is the most common followed by epiretinal membranes and combined hamartomas of the retina and retinal pigment epithelium. Read More

Oncotarget 2018 Feb 10;9(11):9940-9950. Epub 2018 Jan 10.

Department of Neurosurgery, University Hospital Würzburg, 97080 Würzburg, Germany.

Background: CXCR4 is a chemokine receptor that recruits blood stem cells and increases tumor cell growth and invasiveness. We examined CXCR4 expression in vestibular schwannomas (VS) from patients with and without neurofibromatosis type 2 (NF2) and correlated the levels with the patients' clinical characteristics. The aim was to determine whether CXCR4 can be used as a prognostic marker and as a target for systemic therapy. Read More

Eur Arch Otorhinolaryngol 2018 May 5;275(5):1059-1068. Epub 2018 Mar 5.

Department of Otology and Skull Base Surgery, Gruppo Otologico, Piacenza, Rome, Italy.

Objectives: To evaluate incidence, demographics, surgical, and radiological correlates of incomplete and false tract electrode array insertions during cochlear implantation (CI). To evaluate outcomes in patients with incomplete electrode insertion (IEI).

Study Design: Retrospective analysis. Read More

J Neurosurg 2018 Mar 2:1-10. Epub 2018 Mar 2.

Departments of 1 Neurosurgery.

OBJECTIVE The authors present long-term follow-up data on patients treated with Gamma Knife radiosurgery (GKRS) for acoustic neuroma. METHODS Six hundred eighteen patients were radiosurgically treated for acoustic neuroma between 1992 and 2016 at the Department of Neurosurgery, Medical University Vienna. Patients with neurofibromatosis and patients treated too recently to attain 1 year of follow-up were excluded from this retrospective study. Read More

J Neurooncol 2018 Jun 28;138(2):417-424. Epub 2018 Feb 28.

Neural Reconstruction Department, Beijing Neurosurgical Institute, Capital Medical University, Beijing, China.

Surgical treatment of vestibular schwannoma (VS) in patients with neurofibromatosis type 2 (NF2) along with functional preservation of cranial nerves is challenging. The aim of this study was to analyze the outcomes of hearing and facial nerve function in patients with NF2 who underwent large-size VS (> 2 cm) surgery. From 2006 to 2016, one hundred and forty NF2 patients were included with 149 large-size VS resections using retrosigmoid approach. Read More

Neurosurg Focus 2018 Mar;44(3):E9

Department of Neurosurgery, Evangelical University Hospital of Curitiba; and Departments of.

Hearing loss is the most common symptom of vestibular schwannomas (VSs). The management of these lesions includes observation, radiosurgery, and microsurgical resection. Hearing preservation and rehabilitation are the major challenges after the tumor treatment. Read More

Handb Clin Neurol 2018 ;148:799-811

Department of Neurology, Washington University School of Medicine, St. Louis, MO, United States. Electronic address:

The neurofibromatoses are a group of three heterogeneous disorders that include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 is the most common of these three conditions, and represents one of the most frequently diagnosed cancer predisposition disorders involving the nervous system. While NF1 primarily affects the central and peripheral nervous system, multisystem involvement is the rule, with dermatologic, cardiovascular, gastrointestinal, and orthopedic affectation often reported. Read More

World Neurosurg 2018 May 21;113:195-197. Epub 2018 Feb 21.

Department of Neurosurgery, University Hospital Zurich, University of Zurich, Zurich, Switzerland; Clinical Neuroscience Center, University Hospital Zurich, Zurich, Switzerland.

Background: Patients with neurofibromatosis type 2 and bilateral vestibular schwannoma (VS) are frequently treated surgically for any tumor progression, and often repeated surgery or radiation treatment is even considered. Some VS progression occurs without the development of new clinical symptoms, or it does not progress in size over many years, even in the absence of any specific treatment.

Case Description: A 61-year-old male patient with neurofibromatosis type 2 presented with bilateral VS. Read More

J Magn Reson Imaging 2018 Feb 23. Epub 2018 Feb 23.

Division of Informatics, Imaging and Data Science, The University of Manchester, 27 Palatine Road, Manchester, United Kingdom.

Background: Previous studies have measured cerebral blood flow (CBF) with DSC-MRI using an "early time points" (ET) method based on microsphere theory.

Purpose: To develop and assess a new ET method for absolute CBF estimation using low-dose high-temporal (LDHT) T1W-DCE-MRI.

Study Type: Retrospective cohort study. Read More

Ann Neurol 2018 Apr 25;83(4):854-857. Epub 2018 Mar 25.

Department of Neuroradiology, Neurological University Clinic, Heidelberg University Hospital, Heidelberg.

Schwannomatosis and neurofibromatosis type 2 are hereditary tumor syndromes, and peripheral neuropathy has been reported in both. We prospectively applied in vivo morphometric measurement of dorsal root ganglia volume in 16 schwannomatosis patients, 14 neurofibromatosis type 2 patients, and 26 healthy controls by magnetic resonance neurography. Compared to healthy controls, dorsal root ganglia hypertrophy was a consistent finding in neurofibromatosis type 2 (L3, + 267%; L4, + 235%; L5, + 241%; S1, + 300%; S2, + 242%; Bonferroni-adjusted p < 0. Read More

J Pediatr Genet 2018 Mar 4;7(1):1-8. Epub 2018 Jan 4.

Department of Otolaryngology - Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, Indiana, United States.

Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF. Read More

Continuum (Minneap Minn) 2018 02;24(1, Child Neurology):96-129

Purpose Of Review: This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices.

Recent Findings: The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti. Read More

J Neurooncol 2018 May 9;138(1):183-190. Epub 2018 Feb 9.

Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Immune checkpoint inhibitors targeting programmed cell death 1 (PD-1) or its ligand (PD-L1) have been shown to be effective in treating patients with a variety of cancers. Biomarker studies have found positive associations between clinical response rates and PD-L1 expression on tumor cells, as well as the presence of tumor infiltrating lymphocytes (TILs). It is currently unknown whether tumors associated with neurofibromatosis types 1 and 2 (NF1 and NF2) express PD-L1. Read More