Clinical Management Of Individuals Research Articles

Prenatal and postnatal urinary tract dilation: advantages of a standardized ultrasound definition and classification.

Urinary tract dilatation is identified sonographically in 1-2% of fetuses and reflects a spectrum of possible nephro-uropathies. There is significant variability in the clinical management of individuals with prenatal urinary tract dilatation to postnatal urinary pathologies, because of a lack of consensus and uniformity in defining and classifying urinary tract dilation. Ultrasonography is the first step to screen and diagnose kidneys and the urinary tract diseases of the children. The need for a correct ultrasound approach led to the realization of algorithms aimed at standardizing the procedures, the parameters and the classifications. Our objective was to highlight the strengths of the Classification of Urinary Tract Dilation (UTD) suggested by the Consensus Conference which took place in 2014 with the participation of eight Scientific Societies and was subsequently published on the Journal of Pediatric Urology. Before its spread out, the definition of UTD was not uniform and the ultrasonographic measurements were not clearly defined, leading to misunderstandings between physicians. The Classification by the Consensus Conference of 2014 represents a revolutionary tool for the diagnosis and management of UTD. Furthermore, the parameters suggested by the classification proposed are applicable for both prenatal and postnatal classification, ensuring a correct follow-up in children with UTD whose diagnosis had been already made during pregnancy.

Whole body magnetic resonance imaging (WB-MRI) and brain MRI baseline surveillance in TP53 germline mutation carriers: experience from the Li-Fraumeni Syndrome Education and Early Detection (LEAD) clinic.

Individuals with Li-Fraumeni syndrome (LFS) have a significantly increased lifetime cancer risk affecting multiple organ sites. Therefore, novel comprehensive screening approaches are necessary to improve cancer detection and survival in this population. The objective of this study was to determine the diagnostic performance of whole body MRI (WB-MRI) and dedicated brain MRI screening as part of a comprehensive screening clinic called Li-Fraumeni Education and Early Detection (LEAD) at MD Anderson Cancer Center. Adult (≥21year old) and pediatric (<21year old) patients were referred to the LEAD clinic by healthcare providers or self-referred and screened at 6month intervals. During the study period, 63 LFS individuals were seen in the LEAD clinic including 49 adults (11 male, 38 female) and 14 children (7 male, 7 female). Fifty-three of 63 potentially eligible individuals underwent baseline WB-MRI (41 adults and 12 children) with primary tumors detected in six patients, tumor recurrence in one patient and cancer metastases in one patient. Thirty-five of 63 patients (24 adults and 11 children) underwent baseline brain MRI with primary brain tumors detected in three individuals, also noted on subsequent WB-MRI scans. Three additional tumors were diagnosed that in retrospect review were missed on the initial scan (false negatives) and one tumor noted, but not followed up clinically, was prospectively found to be malignant. The high incidence of asymptomatic tumors identified in this initial screening (13%), supports the inclusion of WB-MRI and brain MRI in the clinical management of individuals with LFS.

Lung cancers with mutations in EGFR exon 18: Molecular characterization and clinical outcomes in response to tyrosine kinase inhibitors.

9029 Background: Little data is available to guide clinical management of individuals with less common oncogenic drivers such as exon 18 mutations (ex18m) in EGFR. To better understand the impact of these rare mutations on treatment outcomes, we reviewed clinicopathologic data in patients (pts) with ex18m treated with tyrosine kinase inhibitors (TKI) in EGFR-mutant lung cancers. Methods: Pts with EGFR ex18m were detected via molecular diagnostics using Sequenom™, FoundationOne™ or MSK IMPACT™ NGS testing from 2003-2016. We reviewed their clinical data for molecular alterations in EGFR, treatment outcomes in response to TKI (time on treatment) and median overall survival (OS). Results: We identified mutations in EGFR ex18m in 63 pts. Median age at diagnosis was 68; 63% were women; 29% never smokers. Overall, 74 ex18m were found in 63 pts, including: G719A = 38, G719S = 11, G719C = 8, E709K = 6, E709_T710delinsD = 6, E709A = 3, G719D = 2. E709 and G719 co-mutations in ex18 were found in 9 pts, and 1 pt was found to have 3 separate tumors, each with a distinct ex18m. 29/63 (46%) patients with ex18m had a co-occurring EGFR mutation: 9 with another ex18m; 20 with ex19-21m. Using our IMPACT NGS, the median number of co-mutations was 8 (range 1-17). Two out of 63 pts had a pre-treatment T790M mutation. The 25 pts with non-metastatic disease presented in the following stages: IA = 19; IB = 3; IIB = 1; IIIA = 2; IIIB = 2. 34/38 pts with metastatic disease were treated with the following first-line EGFR-TKIs: erlotinib = 28, afatinib = 5, osimertinib = 1. Median duration on TKI treatment in months was: erlotinib = 10 mo, (range 1-25), afatinib = 3 mo (range 2-9), osimertinib = 4 mo. Median OS from the date of diagnosis of metastatic disease was 22 months (95% CI 18-29). In comparison, a similar cohort of pts with sensitizing EGFR exon19del/L858R mutations had a median OS of 31 months (95% CI 28-33) (Naidoo Cancer2015). Conclusions: Almost half of ex18m occur concurrently with another EGFR mutation. Overall, ex18m pts have a shorter median OS when compared to similar patient cohorts. EGFR-TKIs appear to be an effective treatment for pts with ex18m in EGFR-mutant lung cancers.

Research Article A targeted NGS approach to identify a c.352C&gt;G variant in the TWIST1 gene in an Albanian family with Saethre–Chotzen syndrome

A targeted next generation sequencing (NGS) approach analysing contemporaneously 20 different genes mainly involved in craniosynostosis was adopted to molecularly diagnose the family of a 2-years old girl affected by Saethre–Chotzen syndrome, a syndromic form of craniosynostosis. The identified pathogenic variant in the TWIST1 gene lies in a conserved residue (Arg118) that shifts from a positively charged amino acid to a non-polar amino acid and segregates in all the examined affected familial members, although with variable phenotypic expression. An accurate molecular diagnosis is of obvious value for the clinical management of individuals with isolated or syndromic craniosynostosis to define their medical needs, the recurrence risk and allow the identification of available therapeutic opportunity. Given the high number of associated genes, an NGS approach is the election choice to increase the yield of genetic diagnosis, leading to an expansion of the genotypic and phenotypic spectrum of these rare syndromes

Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system)

ObjectiveUrinary tract (UT) dilation is sonographically identified in 1–2% of fetuses and reflects a spectrum of possible uropathies. There is significant variability in the clinical management of individuals with prenatal UT dilation that stems from a paucity of evidence-based information correlating the severity of prenatal UT dilation to postnatal urological pathologies. The lack of correlation between prenatal and postnatal US findings and final urologic diagnosis has been problematic, in large measure because of a lack of consensus and uniformity in defining and classifying UT dilation. Consequently, there is a need for a unified classification system with an accepted standard terminology for the diagnosis and management of prenatal and postnatal UT dilation. MethodsA consensus meeting was convened on March 14–15, 2014, in Linthicum, Maryland, USA to propose: 1) a unified description of UT dilation that could be applied both prenatally and postnatally; and 2) a standardized scheme for the perinatal evaluation of these patients based on sonographic criteria (i.e. the classification system). The participating societies included American College of Radiology, the American Institute of Ultrasound in Medicine, the American Society of Pediatric Nephrology, the Society for Fetal Urology, the Society for Maternal-Fetal Medicine, the Society for Pediatric Urology, the Society for Pediatric Radiology and the Society of Radiologists in Ultrasounds. ResultsThe recommendations proposed in this consensus statement are based on a detailed analysis of the current literature and expert opinion representing common clinical practice. The proposed UTD Classification System (and hence the severity of the UT dilation) is based on six categories in US findings: 1) anterior-posterior renal pelvic diameter (APRPD); 2) calyceal dilation; 3) renal parenchymal thickness; 4) renal parenchymal appearance; 5) bladder abnormalities; and 6) ureteral abnormalities. The classification system is stratified based on gestational age and whether the UT dilation is detected prenatally or postnatally. The panel also proposed a follow-up scheme based on the UTD classification. ConclusionThe proposed grading classification system will require extensive evaluation to assess its utility in predicting clinical outcomes. Currently, the grading system is correlated with the risk of postnatal uropathies. Future research will help to further refine the classification system to one that correlates with other clinical outcomes such as the need for surgical intervention or renal function.

Management of Adults with Traumatic Brain Injuryedited by ArciniegasDavid B.ZaslerNathan D.VanderploegRodney D.JaffeeMichael S., 587 pp., American Psychiatric Publishing, 2013, $79

edited by David B. Arciniegas, Nathan D. Zasler, Rodney D. Vanderploeg, Michael S. Jaffee, 587 pp., American Psychiatric Publishing, 2013, $79 Management of Adults with Traumatic Brain Injury is a well-written, comprehensive, and succinct guide to the treatment of individuals who have had a traumatic brain injury. The objective of the book is “to provide physicians, psychologists, nurses, and mental health and rehabilitation specialists with concise and practical guidance on the clinical management of individuals and families affected by traumatic brain injury.” This book clearly meets this objective.

Windows into the Visual Brain: New Discoveries about the Visual System, Its Functions, and Implications for Practitioners

Introduction In recent years, major progress has been made in understanding the human visual system because of new investigative techniques. These developments often contradict older concepts about visual function. Methods A detailed literature search and interprofessional discussions. Results Recent innovative neurological tests are described that are able to show much more accurately the visual pathways, the process of vision, and the close relationships among sensory modalities. These tests also reveal the remarkable neuroplasticity of the human brain and disorders of connectivity that frequently involve visual function. Discussion How these recent neurological advances may benefit service providers is discussed. Implications for practitioners It is important that from time to time new neurological and ophthalmic developments are summarized for professionals who are involved in the clinical management of individuals with visual disorders and how the newly acquired knowledge affects the diagnosis and intervention strategies. Visual rehabilitation must be based on up-to-date science, which continually changes and grows with research.

Description of selected characteristics of familial glioma patients – Results from the Gliogene Consortium

BackgroundWhile certain inherited syndromes (e.g. Neurofibromatosis or Li-Fraumeni) are associated with an increased risk of glioma, most familial gliomas are non-syndromic. This study describes the demographic and clinical characteristics of the largest series of non-syndromic glioma families ascertained from 14 centres in the United States (US), Europe and Israel as part of the Gliogene Consortium. MethodsFamilies with 2 or more verified gliomas were recruited between January 2007 and February 2011. Distributions of demographic characteristics and clinical variables of gliomas in the families were described based on information derived from personal questionnaires. FindingsThe study population comprised 841 glioma patients identified in 376 families (9797 individuals). There were more cases of glioma among males, with a male to female ratio of 1.25. In most families (83%), 2 gliomas were reported, with 3 and 4 gliomas in 13% and 3% of the families, respectively. For families with 2 gliomas, 57% were among 1st-degree relatives, and 31.5% among 2nd-degree relatives. Overall, the mean (±standard deviation [SD]) diagnosis age was 49.4 (±18.7) years. In 48% of families with 2 gliomas, at least one was diagnosed at <40y, and in 12% both were diagnosed under 40y of age. Most of these families (76%) had at least one grade IV glioblastoma multiforme (GBM), and in 32% both cases were grade IV gliomas. The most common glioma subtype was GBM (55%), followed by anaplastic astrocytoma (10%) and oligodendroglioma (8%). Individuals with grades I–II were on average 17y younger than those with grades III–IV. InterpretationFamilial glioma cases are similar to sporadic cases in terms of gender distribution, age, morphology and grade. Most familial gliomas appear to comprise clusters of two cases suggesting low penetrance, and that the risk of developing additional gliomas is probably low. These results should be useful in the counselling and clinical management of individuals with a family history of glioma.

Type 2 diabetes mellitus

The clinical management of individuals with type 2 diabetes mellitus (T2DM) in primary care is a challenge both to the novice and the experienced clinician. This article reviews the latest evidence-based guidelines and focuses on how to incorporate them into the primary care setting for adults already diagnosed with T2DM.

Assessment and treatment of pain in people with dementia

Many elderly people experience pain and regularly take analgesic medication. Pain is also frequent in people with dementia, particularly those with severe disease. As no robust clinical guidelines are available for the treatment of pain in the context of dementia, the risk of inadequate treatment in individuals with this condition is high. Furthermore, our understanding of the aetiology of pain and the potential role of dementia-associated neuropathology in pain is limited. These issues are important in the clinical management of individuals with dementia, as untreated pain is a major contributor to reduced quality of life and disability, and can lead to increased behavioural and psychological symptoms. Assessment scales to identify pain in people with dementia have been highlighted in recent studies, but there is little evidence for consistency between these tools. Numerous studies have evaluated various approaches for the treatment of pain, including stepped-care protocols and/or administration of paracetamol and opioid medications. In this Review, we summarize the best-available evidence regarding the aetiology, assessment and treatment of pain in people with dementia. Further validation of assessment tools and large-scale trials of treatment approaches in people with dementia are needed to improve clinical guidance for the treatment of pain in these individuals.

Potassium-channel mutations and cardiac arrhythmias—diagnosis and therapy

The coordinated generation and propagation of action potentials within cardiomyocytes creates the intrinsic electrical stimuli that are responsible for maintaining the electromechanical pump function of the human heart. The synchronous opening and closing of cardiac Na(+), Ca(2+), and K(+) channels corresponds with the activation and inactivation of inward depolarizing (Na(+) and Ca(2+)) and outward repolarizing (K(+)) currents that underlie the various phases of the cardiac action potential (resting, depolarization, plateau, and repolarization). Inherited mutations in pore-forming α subunits and accessory β subunits of cardiac K(+) channels can perturb the atrial and ventricular action potential and cause various cardiac arrhythmia syndromes, including long QT syndrome, short QT syndrome, Brugada syndrome, and familial atrial fibrillation. In this Review, we summarize the current understanding of the molecular and cellular mechanisms that underlie K(+)-channel-mediated arrhythmia syndromes. We also describe translational advances that have led to the emerging role of genetic testing and genotype-specific therapy in the diagnosis and clinical management of individuals who harbor pathogenic mutations in genes that encode α or β subunits of cardiac K(+) channels.

Bias in the Reporting of Family History: Implications for Clinical Care

Family history of cancer is critical for identifying and managing patients at risk for cancer. However, the quality of family history data is dependent on the accuracy of patient self reporting. Therefore, the validity of family history reporting is crucial to the quality of clinical care. A retrospective review of family history data collected at a community hospital between 2005 and 2009 was performed in 43,257 women presenting for screening mammography. Reported numbers of breast, colon, prostate, lung, and ovarian cancer were compared in maternal relatives vs. paternal relatives and in first vs. second degree relatives. Significant reporting differences were found between maternal and paternal family history of cancer, in addition to degree of relative. The number of paternal family histories of cancer was significantly lower than that of maternal family histories of cancer. Similarly, the percentage of grandparents' family histories of cancer was significantly lower than the percentage of parents' family histories of cancer. This trend was found in all cancers except prostate cancer. Self-reported family history in the community setting is often influenced by both bloodline of the cancer history and the degree of relative affected. This is evident by the underreporting of paternal family histories of cancer, and also, though to a lesser extent, by degree. These discrepancies in reporting family history of cancer imply we need to take more care in collecting accurate family histories and also in the clinical management of individuals in relation to hereditary risk.

Novel and emerging recreational drugs

The overall annual prevalence rate of recreational drug use in Europe is up to 10%, with much greater use in those attending nightclubs. National and International legislation controls classical recreational drugs. In addition to classical recreational drugs covered by legislation, novel drugs continue to emerge (e.g. Piperazines, substituted cathinones,’ “Spice”) as well as recreational use of misappropriated prescription medicines (e.g. glaucine, pregabalin). In most countries, where drug control legislation is non-generic, these drugs are initially not controlled. For this reason, these novel drugs are often referred to as “legal highs”. Legislation lags behind initial use of these drugs and there is often a delay of 2–3 years between the initial reports of use and toxicity before they are controlled. The piperazines were controlled at European level in 2009 but currently the substituted cathinones remain legal. Recent surveys indicate that up to 40% of those attending nightclubs have used the substituted cathinone mephedrone, with one-third using it in the last month. Because these drugs are legally available their route of supply is different with most users sourcing them over the Internet or in high street head shops. Data will be presented on the analysis of drugs that we have purchased from the internet and from drug amnesty bins. There are increasing reports of toxicity associated with the use of these compounds; generally the pattern of toxicity seen is similar to classical recreational drugs with sympathomimetic and/or hallucinogenic features. Data will be presented on cases that we have seen and published from our unit. We feel that there is a need for a more systematic approach to identify novel agents and the overall epidemiology of recreational drug toxicity to inform both the clinical management of individuals with recreational drug toxicity and legislative agencies to ensure that drug classification systems are appropriate.

Quantifying the material and structural determinants of bone strength

The ability of a bone to resist fracture depends on the amount of bone present, the spatial distribution of the bone mass as cortical and trabecular bone and the intrinsic properties of the bone material. Whereas low areal bone mineral density (aBMD) predicts fractures, its sensitivity and specificity is low, as over 50% of fractures occur in persons without osteoporosis by BMD testing and most women with osteoporosis do not sustain a fracture. New non-invasive imaging techniques, including three-dimensional (3D) assessments of bone density and geometry, microarchitecture and integrated measurements of bone strength such as finite element analysis (FEA), provide estimates of bone strength that can be used to increase the sensitivity and specificity of fracture risk assessment. Initial observations have shown that these techniques provide information that will improve our understanding of the pathophysiology of skeletal fragility and suggest that these techniques are likely to have a role in the clinical management of individuals at risk for fracture.

Is the self-reported history accurate in patients with persistent axial pain after a motor vehicle accident?

Background context A patient's self-reported history has, in general, assumed to be accurate. Clinical management of individuals with persistent axial pain after a motor vehicle accident (MVA) and measures to prevent future MVA, spinal cord injury, and traffic deaths often depend on a presumed accurate report of preexisting axial pain, drug, alcohol, and psychological problems to initiate intervention. In addition, research efforts to determine the effects of MVA on subsequent health are often predicated on a presumed accurate history from the patient of past medical and psychosocial problems. Despite so many clinical, public health, and research efforts being dependent on an accurate assessment of pre-injury health, the validity of the self-reported history after MVA has not been systematically investigated. Purpose To determine the validity of self-reported history in subjects with axial neck or back pain attributed to a recent MVA. Study design A prospective, multiclinic validation study examining the critical elements of a patient's self-reported history after an MVA judged against an audit of his or her medical records. Patient sample A cohort of consecutive patients with persistent axial pain after an MVA was prospectively identified from five spine-specialist's outpatient clinics. Of 702 patients, 335 subjects were randomly selected for auditing of their medical records. Outcome measures Self-reported demographic and clinical features were recorded by standardized questionnaires and clinical interviews. Audits compared these responses to an extensive medical record search. Methods The self-reported prevalence of preexisting axial pain, at-risk comorbidities (psychological distress, alcohol, and drug abuse), and control conditions (hypertension and diabetes) was recorded. The medical records of a random sample of 50% of the enrolled cohort underwent auditing of their medical records in a wide search of network paper and electronic and archived records, and compared with the self-reported history of pre-accident health. Results Overall, approximately 50% of the subjects were found to have previous axial pain problems at audit when none was reported to the spine-specialist after an MVA. Similarly, approximately 75% of the subjects were found to have one or more preexisting comorbid conditions at audit that were not reported during the evaluation after the MVA (alcohol abuse, illicit drug use, and psychological diagnosis). For those who perceived that the accident was the fault of another, as opposed to their own or no one's fault, the documented previous back and neck pain troubles in the medical records was more than twice the self-reported rate of these problems (p<.01). The rate of previously documented psychological problems was more than seven times that of the self-reported rate (p = 0.001). In those subjects who perceived that the accident was their own or no one's fault, a lesser degree of under-reporting of axial pain and comorbid conditions was found. Conclusion The validity of the patient's self-reported history when presenting with persistent axial pain after an MVA appears poor in this large multiclinic random sample.The self-reported rates of alcohol abuse, illicit drug use, and psychological diagnosis, as well as prior axial pain were significantly lower than that seen in the medical records, especially in thosewho perceive that the MVA was another's fault. The failure to recognize this under-reporting may seriously compromise clinical care, public health efforts at injury prevention, and research protocols dependent on accurate pre-accident morbidity assessments.

Outstanding Paper: Is the Self-reported History Accurate in Patients with Persistent Axial Pain Following a Motor Vehicle Accident?

BACKGROUND CONTEXT: A patient's self-reported history has, in general assumed to be accurate. Clinical management of individuals with persistent axial pain after MVA and well as measures to prevent future MVA, spinal cord injury and traffic deaths often depend on a presumed accurate report of pre-existing axial pain, drug, alcohol and psychological problems to initiate intervention. In addition, research efforts to determine the effects of MVA on subsequent health are often predicated on a presumed accurate history from the patient of past medical and psychosocial problems.

BRCA1 and BRCA2 Mutation Prevalence and Clinical Characteristics of a Population-Based Series of Ovarian Cancer Cases from Denmark

To evaluate the prevalence of BRCA1 and BRCA2 mutations and associations with clinical correlates of disease in a population-based series of ovarian cancer cases from Denmark. DNA sequencing and multiplex ligation-dependent probe amplification analysis were used to analyze the BRCA1 and BRCA2 genes for coding sequence mutations and large genomic rearrangements in 445 confirmed cases of ovarian cancer. We evaluated associations between mutation status and clinical characteristics, including cancer risks for first-degree relatives and clinicopathologic features of tumors. Deleterious BRCA1 or BRCA2 mutations were identified in 26 cases; thus, mutations in these genes are responsible for at least 5.8% of ovarian cancer cases in this population. Five different mutations were identified in more than one individual, suggesting that they may be founder mutations in Denmark. We identified several differences between mutation carriers and noncarriers: mutation carriers were diagnosed at a significantly early age (median, 49 and 61 years, respectively; P = 0.0001); the frequency of BRCA1 mutation carriers was 23% for women diagnosed <40 years, 15% for 40 to 49 years, 4% for 50 to 59 years, and 2% for > or =60 years (P = 0.00002); ovarian cancer in carriers was diagnosed at a later stage (P = 0.002) and tumors were of poorer grade (P = 0.0001); and first-degree relatives of mutation carriers had greater relative risks of both ovarian cancer [10.6 (95% confidence interval, 4.2-26.6); P < 0.0001] and breast cancer <60 years [8.7 (95% confidence interval, 3.0-25.0); P < 0.0001]. These data may have a significant effect on risk assessment and clinical management of individuals from Denmark who are predisposed to ovarian cancer because they carry a BRCA1 or BRCA2 mutation.

Technology Insight: noninvasive assessment of bone strength in osteoporosis

Fractures that result from osteoporosis are an enormous and growing concern for public health systems; as the population ages, the number of fractures worldwide will double or triple in the next 50 years. The ability of a bone to resist fracture depends not only on the amount of bone present, but also on the spatial distribution of the bone mass, the cortical and trabecular microarchitecture, and the intrinsic properties of the materials that comprise the bone. Although low bone mineral density is one of the strongest risk factors for fracture, a number of clinical studies have demonstrated the limitations of using measurements of areal bone mineral density by dual-energy X-ray absorptiometry to assess fracture risk and to monitor responses to therapy. As a result, new, noninvasive imaging techniques that are capable of assessing various components of bone strength are being developed. These techniques include three-dimensional assessments of bone density, geometry and microarchitecture, as well as integrated measurements of bone strength by engineering analyses. Although they show strong potential, further development and validation of these techniques is needed to define their role in the clinical management of individuals with osteoporosis.

Germline missense mutations in mismatch-repair genes and genetic testing for HNPCC

The clinical management of individuals in families with germline mutations in mismatch repair (MMR) genes relies not only on the accurate identification of genetic alterations but also on the interpretation of their pathogenicity. The spectrum of genetic alterations in MMR genes that predispose to hereditary nonpolyposis colorectal cancer (HNPCC) is very diverse. Of all mutations, it is the most difficult to predict the effect of missense mutations on the function of the protein. Therefore it is not always clear whether a missense mutation is pathogenic or just a harmless polymorphism. A number of computational and experimental assays (in vivo and in vitro) have been developed to assess the functional significance of missense mutations in MMR genes. Despite the profusion of such assays, it is not clear that they are sufficiently sensitive and specific to serve as clinically applicable diagnostic tests for HNPCC.

1242 POSTER Cancer registry in Iran

While certain inherited syndromes (e.g. Neurofibromatosis or Li-Fraumeni) are associated with an increased risk of glioma, most familial gliomas are non-syndromic. This study describes the demographic and clinical characteristics of the largest series of non-syndromic glioma families ascertained from 14 centres in the United States (US), Europe and Israel as part of the Gliogene Consortium.Families with 2 or more verified gliomas were recruited between January 2007 and February 2011. Distributions of demographic characteristics and clinical variables of gliomas in the families were described based on information derived from personal questionnaires.The study population comprised 841 glioma patients identified in 376 families (9797 individuals). There were more cases of glioma among males, with a male to female ratio of 1.25. In most families (83%), 2 gliomas were reported, with 3 and 4 gliomas in 13% and 3% of the families, respectively. For families with 2 gliomas, 57% were among 1st-degree relatives, and 31.5% among 2nd-degree relatives. Overall, the mean (±standard deviation [SD]) diagnosis age was 49.4 (± 18.7) years. In 48% of families with 2 gliomas, at least one was diagnosed at <40 y, and in 12% both were diagnosed under 40 y of age. Most of these families (76%) had at least one grade IV glioblastoma multiforme (GBM), and in 32% both cases were grade IV gliomas. The most common glioma subtype was GBM (55%), followed by anaplastic astrocytoma (10%) and oligodendroglioma (8%). Individuals with grades I–II were on average 17 y younger than those with grades III–IV.Familial glioma cases are similar to sporadic cases in terms of gender distribution, age, morphology and grade. Most familial gliomas appear to comprise clusters of two cases suggesting low penetrance, and that the risk of developing additional gliomas is probably low. These results should be useful in the counselling and clinical management of individuals with a family history of glioma.