The Experts below are selected from a list of 225 Experts worldwide ranked by ideXlab platform
R R Frants - One of the best experts on this subject based on the ideXlab platform.
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childhood epilepsy familial hemiplegic migraine cerebellar ataxia and a new cacna1a mutation
Neurology, 2004Co-Authors: E E Kors, Atle Melberg, K R J Vanmolkot, Eva Kumlien, J Haan, Raili Raininko, Roland Flink, H B Ginjaar, R R Frants, Maurizio FerrariAbstract:The CACNA1A gene encodes the pore-forming subunit of neuronal P/Q type Ca2+ channels. Mutations in this gene cause a spectrum of neurologic diseases, including familial hemiplegic migraine (FHM) with or without ataxia.1 We report a novel de novo CACNA1A mutation in a Swedish family. Three mutation carriers had FHM and early onset ataxia; additional childhood epilepsy occurred in two . The proband, II-3, is a 54-year-old woman with slowly progressive cerebellar ataxia since childhood and cerebellar atrophy on CT. She was hospitalized at ages 7 and 8 because of decreased consciousness and vomiting for 1 day, starting with a Lucid Interval after a fall. She experienced four hemiplegic migraine attacks between ages 14 and 30 years and weekly at age 47. Seizures were never observed. Her 32-year-old son (III-5) and 30-year-old daughter (III-6), who have different fathers, showed cerebellar ataxia at age 4. Ataxia is now prominent in both, and brain imaging shows cerebellar atrophy. …
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delayed cerebral edema and fatal coma after minor head trauma role of the cacna1a calcium channel subunit gene and relationship with familial hemiplegic migraine
Annals of Neurology, 2001Co-Authors: E E Kors, J Haan, Gisela M Terwindt, Frans L M G Vermeulen, Robin B Fitzsimons, Philip Jardine, Peter Heywood, Seth Love, Arn M J M Van Den Maagdenberg, R R FrantsAbstract:Trivial head trauma may be complicated by severe, sometimes even fatal, cerebral edema and coma occurring after a Lucid Interval ("delayed cerebral edema"). Attacks of familial hemiplegic migraine (FHM) can be triggered by minor head trauma and are sometimes accompanied by coma. Mutations in the CACNA1A calcium channel subunit gene on chromosome 19 are associated with a wide spectrum of mutation-specific episodic and chronic neurological disorders, including FHM with or without coma. We investigated the role of the CACNA1A gene in three subjects with delayed cerebral edema. Two subjects originated from a family with extreme FHM, and one subject was the previously asymptomatic daughter of a sporadic patient with hemiplegic migraine attacks. In all three subjects with delayed severe edema, we found a C-to-T substitution resulting in the substitution of serine for lysine at codon 218 (S218L) in the CACNA1A gene. The mutation was absent in nonaffected family members and 152 control individuals. Haplotype analysis excluded a common founder for both families. Neuropathological examination in one subject showed Purkinje cell loss with relative preservation of granule cells and sparing of the dentate and inferior olivary nuclei. We conclude that the novel S218L mutation in the CACNA1A calcium channel subunit gene is involved in FHM and delayed fatal cerebral edema and coma after minor head trauma. This finding may have important implications for the understanding and treatment of this dramatic syndrome.
E E Kors - One of the best experts on this subject based on the ideXlab platform.
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childhood epilepsy familial hemiplegic migraine cerebellar ataxia and a new cacna1a mutation
Neurology, 2004Co-Authors: E E Kors, Atle Melberg, K R J Vanmolkot, Eva Kumlien, J Haan, Raili Raininko, Roland Flink, H B Ginjaar, R R Frants, Maurizio FerrariAbstract:The CACNA1A gene encodes the pore-forming subunit of neuronal P/Q type Ca2+ channels. Mutations in this gene cause a spectrum of neurologic diseases, including familial hemiplegic migraine (FHM) with or without ataxia.1 We report a novel de novo CACNA1A mutation in a Swedish family. Three mutation carriers had FHM and early onset ataxia; additional childhood epilepsy occurred in two . The proband, II-3, is a 54-year-old woman with slowly progressive cerebellar ataxia since childhood and cerebellar atrophy on CT. She was hospitalized at ages 7 and 8 because of decreased consciousness and vomiting for 1 day, starting with a Lucid Interval after a fall. She experienced four hemiplegic migraine attacks between ages 14 and 30 years and weekly at age 47. Seizures were never observed. Her 32-year-old son (III-5) and 30-year-old daughter (III-6), who have different fathers, showed cerebellar ataxia at age 4. Ataxia is now prominent in both, and brain imaging shows cerebellar atrophy. …
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delayed cerebral edema and fatal coma after minor head trauma role of the cacna1a calcium channel subunit gene and relationship with familial hemiplegic migraine
Annals of Neurology, 2001Co-Authors: E E Kors, J Haan, Gisela M Terwindt, Frans L M G Vermeulen, Robin B Fitzsimons, Philip Jardine, Peter Heywood, Seth Love, Arn M J M Van Den Maagdenberg, R R FrantsAbstract:Trivial head trauma may be complicated by severe, sometimes even fatal, cerebral edema and coma occurring after a Lucid Interval ("delayed cerebral edema"). Attacks of familial hemiplegic migraine (FHM) can be triggered by minor head trauma and are sometimes accompanied by coma. Mutations in the CACNA1A calcium channel subunit gene on chromosome 19 are associated with a wide spectrum of mutation-specific episodic and chronic neurological disorders, including FHM with or without coma. We investigated the role of the CACNA1A gene in three subjects with delayed cerebral edema. Two subjects originated from a family with extreme FHM, and one subject was the previously asymptomatic daughter of a sporadic patient with hemiplegic migraine attacks. In all three subjects with delayed severe edema, we found a C-to-T substitution resulting in the substitution of serine for lysine at codon 218 (S218L) in the CACNA1A gene. The mutation was absent in nonaffected family members and 152 control individuals. Haplotype analysis excluded a common founder for both families. Neuropathological examination in one subject showed Purkinje cell loss with relative preservation of granule cells and sparing of the dentate and inferior olivary nuclei. We conclude that the novel S218L mutation in the CACNA1A calcium channel subunit gene is involved in FHM and delayed fatal cerebral edema and coma after minor head trauma. This finding may have important implications for the understanding and treatment of this dramatic syndrome.
Margit L. Bleecker - One of the best experts on this subject based on the ideXlab platform.
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Carbon monoxide intoxication
Handbook of Clinical Neurology, 2015Co-Authors: Margit L. BleeckerAbstract:Carbon monoxide (CO) is a colorless, odorless, nonirritant gas that accounts for numerous cases of CO poisoning every year from a variety of sources of incomplete combustion of hydrocarbons. These include poorly functioning heating systems, indoor propane-powered forklifts, indoor burning of charcoal burning briquettes, riding in the back of pick-up trucks, ice skating rinks using propane-powered resurfacing machines, and gasoline-powered generators that are not in correct locations. Once CO is inhaled it binds with hemoglobin to form carboxyhemoglobin (COHb) with an affinity 200 times greater than oxygen that leads to decreased oxygen-carrying capacity and decreased release of oxygen to tissues leading to tissue hypoxia. Ischemia occurs with CO poisoning when there is loss of consciousness that is accompanied by hypotension and ischemia in the arterial border zones of the brain. Besides binding to many heme-containing proteins, CO disrupts oxidative metabolism leading to the formation of free radicals. Once hypotension and unconsciousness occur with CO poisoning, lipid peroxidation and apoptosis follow. Because COHb has a short half-life, examination of other biomarkers of CO neurotoxicity that reflect inflammation or neuronal damage has not demonstrated consistent results. The initial symptoms with CO exposure when COHb is 15-30% are nonspecific, namely, headache, dizziness, nausea, fatigue, and impaired manual dexterity. However individuals with ischemic heart disease may experience chest pain and decreased exercise duration at COHb levels between 1% and 9%. COHb levels between 30% and 70% lead to loss of consciousness and eventually death. Following resolution of acute symptoms there may be a Lucid Interval of 2-40 days before the development of delayed neurologic sequelae (DNS), with diffuse demyelination in the brain accompanied by lethargy, behavior changes, forgetfulness, memory loss, and parkinsonian features. Seventy-five percent of patients with DNS recover within 1 year. Neuropsychologic abnormalities with chronic CO exposure are found even when magnetic resonance imaging (MRI) and magnetic resonance spectroscopy are normal. White-matter damage in the centrum semiovale and periventricular area and abnormalities in the globus pallidus are most commonly seen on MRI following CO exposure. Though not as common, toxic or ischemic peripheral neuropathies are associated with CO exposure in humans and animals. The cornerstone for treatment for CO poisoning is 100% oxygen using a tight-fitting mask for greater than 6 hours. The indications for treatment with hyperbaric oxygen to decrease the half-life of COHb remain controversial.
Glen C Jickling - One of the best experts on this subject based on the ideXlab platform.
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delayed post hypoxic leukoencephalopathy following benzodiazepine and opiate overdose a case report and review of disease pathophysiology p6 203
Neurology, 2016Co-Authors: Dionne E Swor, Frank R Sharp, Glen C JicklingAbstract:Background: Delayed post-hypoxic leukoencephalopathy is an interesting and rare condition, where patients with hypoxic brain injury appear to have a full recovery, only to develop sudden neurologic decline shortly thereafter. The typical neuropsychiatric findings include: disorientation, amnesia, Parkinsonism, akinetic-mutism, and psychosis. MRI of the brain at the time of presentation often demonstrates diffuse demyelination of the white matter involving the cerebral hemispheres, with sparing of the posterior fossa. While the clinical presentation of delayed post-hypoxic leukoencephalopathy is quite striking, most patients do recover to varying degrees. Case Presentation: We describe a case of a 33 year-old female with a hypoxic brain injury, sustained in the setting of a benzodiazepine and opiate overdose with initial imaging evidence of mild ischemia, who experienced a rapid recovery with a Lucid period of 21 days before developing severe neurocognitive deficits, myoclonus, and urinary incontinence. MRI Brain showed symmetric, deep supratentorial white matter signal abnormality with mild reduced diffusion, consistent with diffuse demyelination. A diagnosis of delayed post-hypoxic leukoencephalopathy was made after a thorough work up for mimickers was unrevealing. Conclusion: Delayed post-hypoxic leukoencephalopathy is a rare and likely under diagnosed condition affecting patients with mild to moderate anoxic brain injuries. The mechanism for the delay in neurocognitive decline is unknown to date, but may be related to myelin protein turn over rates. The discordance between the incidence of hypoxic brain injuries and the rare occurrence of delayed post-hypoxic leukoencephalopathy suggests the presence of other contributing factors in explaining the Lucid Interval and delayed deterioration phase of the disease. More research is needed to help eLucidate the pathophysiologic mechanism of this fascinating and rare phenomenon. Disclosure: Dr. Swor has nothing to disclose. Dr. Sharp has nothing to disclose. Dr. Jickling has nothing to disclose. Dr. Koo has nothing to disclose.
Jeremy Christopher Ganz - One of the best experts on this subject based on the ideXlab platform.
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the Lucid Interval
2018Co-Authors: Jeremy Christopher GanzAbstract:The concept of a Lucid Interval was introduced by Lorenz Heister. However, after him the presence of a Lucid Interval due to intracranial extravasation was confused with many cases with infection being incorrectly considered as representative of the condition. The final definition was made by Sir Jonathan Hutchinson in 1867.
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the Lucid Interval associated with epidural bleeding evolving understanding
Journal of Neurosurgery, 2013Co-Authors: Jeremy Christopher GanzAbstract:The aim of this paper was to eLucidate the evolution of our understanding of the term "Lucid Interval." A number of texts were reviewed to assess their suitability for analysis. The primary requirement was that the text contain detailed descriptions of a series of patients. Details of the clinical course, the findings and timing of surgery, and, when relevant, the time of death and postmortem findings were required. Books written by Henri-Francois Le Dran, Percival Pott, and James Hill fulfilled these criteria. Surgical findings included the presence and type of fractures, changes in the bone, separation of periosteum, malodorous or purulent material, tense brain, and hematoma. Postmortem findings supplemented and/or complemented the surgical findings. The courses of the patients were then tabulated, and the correlation between different clinical and operative findings was thereby determined. Our understanding of a Lucid Interval began in the early 18th century with the work of Henri-Francois Le Dran and Percival Pott in London. They did not, however, demonstrate an Interval without symptoms between trauma and deterioration in patients with epidural hematomas (EDHs). The Interval they described was longer than usually expected with EDHs and occurred exclusively in patients who had a posttraumatic infection. In 1751, James Hill, from Dumfries, Scotland, described the first hematoma-related Lucid Interval in a patient with a subdural hematoma. The first case of a Lucid Interval associated with an EDH was described by John Abernethy. In the 19th century, Jonathan Hutchinson and Walter Jacobson described the Interval as it is known today, in cases of EDH. The most recent work on the topic came from studies in Cincinnati and Oslo, where it was demonstrated that bleeding can separate dura mater and that hemorrhage into the epidural space can be shunted out via the veins. This shunting could delay the accumulation of a hematoma and thus the rise in intracranial pressure, which in turn would delay the development of symptoms. The Lucid Interval as previously conceived was not properly understood by the French school or by Percival Pott and Benjamin Bell, who all described a symptom-free period prior to the development of infection. The first to have a proper understanding of the Interval in relation to an EDH was John Abernethy. The modern description and definition of the Lucid Interval was the work of Hutchinson and Jacobson in the latter half of the 19th century. Understanding of the pathophysiology of the Lucid Interval has been advanced by the work of Ford and McLaurin in Cincinnati and a group in Oslo, with the demonstration of what it takes to loosen dura and how an arteriovenous shunt slows down for a while the accumulation of an EDH.
