Adult-Onset Genetic Central Nervous System Disorders Masquerading as Acquired Neuroinflammatory Disorders

Ayrignac, Xavier; Marelli, Cécilia; Taïeb, Guillaume; Labauge, Pierre

doi:10.1001/jamaneurol.2022.2141

Cited by 15 publications

(8 citation statements)

References 84 publications

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“…Low-titer false-positive antibodies (eg, GAD, voltage-gated potassium channel) were a common contributor to misdiagnosis in this series 19 . See table 7-3 20,21 for clues to mimics of paraneoplastic neurologic syndromes that require rapid diagnosis and treatment.…”

Section: Clinical Evaluation Of Paraneoplastic Disordersmentioning

confidence: 80%

“…Low-titer false-positive antibodies (eg, GAD, voltage-gated potassium channel) were a common contributor to misdiagnosis in this series. 19 See TABLE 7-3 20,21 for clues to mimics of paraneoplastic neurologic syndromes that require rapid diagnosis and treatment. Once a paraneoplastic syndrome is suspected, it is important to obtain a thorough history including prodromal symptoms, risk factors for cancer, and autoimmunity in the patient and their genetic relatives; conduct a thorough physical examination including full skin, testicular, breast, and gynecologic examinations and full-body lymph node examination (especially supraclavicular lymph nodes); and then choose how to send serum and CSF for diagnostic tests.…”

Section: Key Pointmentioning

confidence: 99%

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Paraneoplastic Neurologic Syndromes

Graber

2023

CONTINUUM: Lifelong Learning in Neurology

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OBJECTIVE Progress is ongoing in understanding paraneoplastic neurologic disorders, with new syndromes and antibodies being described and more detailed evidence available to guide workup for diagnosis and treatment to improve outcomes. Many excellent reviews have summarized the molecular features of different antibodies, but this article emphasizes the clinical features of each syndrome that may help guide initial diagnosis and treatment, which often should occur before an antibody or cancer is found to confirm the diagnosis. LATEST DEVELOPMENTS Recent findings include updated diagnostic criteria with validated sensitivity and specificity, discovery of novel antibodies, and clinical findings that increase the likelihood of an underlying paraneoplastic disorder. Suggestive syndromes that have been recently identified include faciobrachial dystonic seizures and pilomotor auras in anti–leucine-rich glioma inactivated protein 1 encephalitis, extreme delta brush on EEG in N-methyl-d-aspartate (NMDA)-receptor encephalitis, déjà vu aura in anti–glutamic acid decarboxylase 65 (GAD65) encephalitis, and sleep disturbances in several disorders. In addition, there is confirmed utility of brain positron emission tomography (PET) and CSF markers, including carcinoembryonic antigen and oligoclonal bands, as well as improved tests for the presence of leptomeningeal cancer cells in CSF. Associations of cancer immunotherapies with paraneoplastic syndromes and herpes simplex virus encephalitis (and COVID-19) with NMDA-receptor encephalitis have been described. ESSENTIAL POINTS All neurologists should be aware of advances regarding paraneoplastic neurologic syndromes, as patients can present with a wide variety of neurologic symptoms and earlier diagnosis and treatment can improve outcomes.

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Section: Clinical Evaluation Of Paraneoplastic Disordersmentioning

confidence: 80%

Section: Key Pointmentioning

confidence: 99%

Paraneoplastic Neurologic Syndromes

Graber

2023

CONTINUUM: Lifelong Learning in Neurology

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“…This is feasible and can be done after discussing non-disclosure protocols and taking appropriate informed consent. The genetic counselors must consider all such situations and provide information to patients in order to facilitate non-directive decision making (57,58).…”

Section: Genetic Counseling For Adult-onset Genetic Diseasementioning

confidence: 99%

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)

Parikh,

Athalye,

Madon

et al. 2023

Front. Reprod. Health

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Pre-implantation genetic testing (PGT) is a vital tool in preventing chromosomal aneuploidies and other genetic disorders including those that are monogenic in origin. It is performed on embryos created by intracytoplasmic sperm injection (ICSI). Genetic counseling in the area of assisted reproductive technology (ART) has also evolved along with PGT and is considered an essential and integral part of Reproductive Medicine. While PGT has the potential to prevent future progeny from being affected by genetic conditions, genetic counseling helps couples understand and adapt to the medical, psychological, familial and social implications of the genetic contribution to disease. Genetic counseling is particularly helpful for couples with recurrent miscarriages, advanced maternal age, a partner with a chromosome translocation or inversion, those in a consanguineous marriage, and those using donor gametes. Partners with a family history of genetic conditions including hereditary cancer, late onset neurological diseases and with a carrier status for monogenic disorders can benefit from genetic counseling when undergoing PGT for monogenic disorders (PGT-M). Genetic counseling for PGT is useful in cases of Mendelian disorders, autosomal dominant and recessive conditions and sex chromosome linked disorders and for the purposes of utilizing HLA matching technology for creating a savior sibling. It also helps in understanding the importance of PGT in cases of variants of uncertain significance (VUS) and variable penetrance. The possibilities and limitations are discussed in detail during the sessions of genetic counseling.

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“…Yet, despite symptomatic heterogeneity, emerging structural magnetic resonance imaging (MRI) studies have found specific patterns of alterations in the brain's cortical structure in the majority of cases 10–13 . Therefore, recognizing the conditions related to brain cortical changes might be an effective population‐based approach to recognizing alterations in brain function and early‐diagnosis disorders in the brain 14,15 . However, to date, no available evidence has revealed the association between periodontitis and brain cortical structures.…”

Section: Introductionmentioning

confidence: 99%

“…[10][11][12][13] Therefore, recognizing the conditions related to brain cortical changes might be an effective population-based approach to recognizing alterations in brain function and early-diagnosis disorders in the brain. 14,15 However, to date, no available evidence has revealed the association between periodontitis and brain cortical structures.…”

mentioning

confidence: 99%

Periodontitis causally affects the brain cortical structure: A Mendelian randomization study

Wang,

Zhao

et al. 2023

J of Periodontal Research

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ObjectiveTo estimate whether genetically proxied periodontitis causally impacts the brain cortical structure using Mendelian randomization (MR).BackgroundPeriodontitis is one of the most prevalent inflammatory conditions globally, and emerging evidence has indicated its influences on distal organs, including the brain, whose disorders are always accompanied by magnetic resonance imaging (MRI)‐identified brain cortical changes. However, to date, no available evidence has revealed the association between periodontitis and brain cortical structures.MethodsThe instrumental variables (IVs) were adopted from previous genome‐wide association study (GWAS) studies and meta‐analyses of GWAS studies of periodontitis from 1844 to 5266 cases and 8255 to 12 515 controls. IVs were linked to GWAS summary data of 51 665 patients from the ENIGMA Consortium, assessing the impacts of genetically proxied periodontitis on the surficial area (SA) or the cortical thickness (TH) of the global and 34 MRI‐identified functional regions of the brain. Inverse‐variance weighted was used as the primary estimate; the MR pleiotropy residual sum and outlier (MR‐PRESSO), the MR–Egger intercept test, and leave‐one‐out analyses were used to examine the potential horizontal pleiotropy.ResultsGenetically proxied periodontitis affects the SA of the medial orbitofrontal cortex, the lateral orbitofrontal cortex, the inferior temporal cortex, the entorhinal cortex, and the temporal pole, as well as the TH of the entorhinal. No pleiotropy was detected.ConclusionsPeriodontitis causally influences the brain cortical structures, implying the existence of a periodontal tissue–brain axis.

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Adult-Onset Genetic Central Nervous System Disorders Masquerading as Acquired Neuroinflammatory Disorders

Cited by 15 publications

References 84 publications

Paraneoplastic Neurologic Syndromes

Paraneoplastic Neurologic Syndromes

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)

Periodontitis causally affects the brain cortical structure: A Mendelian randomization study

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