1/19. A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia.OBJECTIVE: To search for mutations in the calcium channel gene CACNA1A and to study the genotype-phenotype correlation in a family with a severe familial hemiplegic migraine (FHM) phenotype and a slowly progressive cerebellar ataxia. BACKGROUND: CACNA1A gene mutations on chromosome 19 are involved in approximately 50% of FHM families. The association of FHM and cerebellar ataxia has been reported in a small number of FHM families, all linked to chromosome 19. methods: The proband, in addition to typical hemiplegic migraine attacks, experienced severe episodes during which hemiplegia was associated with acutely altered consciousness and fever lasting several days. She, as well as her affected sister, developed a permanent, late-onset cerebellar ataxia and cerebellar atrophy evident on MRI. Linkage analysis was performed and the whole CACNA1A gene, 47 exon-intron boundaries, was analyzed by double gradient-denaturing gradient gel electrophoresis (DG-DGGE). RESULTS: Genetic studies suggested linkage to chromosome 19p13, and DG-DGGE analysis detected a heteroduplex fragment in exon 13 of the CACNA1A gene. By direct sequencing, a G-to-A substitution resulting in an arginine to glutamine change at codon 583 in the second putative voltage sensor domain of the channel alpha1A-subunit, was identified, possibly representing the disease-causing mutation. The proband and her affected sister were treated with acetazolamide, reporting freedom from new FHM attacks but no benefit in the progression of ataxia. CONCLUSIONS: The combination of episodic dysfunction and permanent deficit could depend on the variety of functions of calcium channels and their distribution in the nervous system.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
2/19. headache in ehlers-danlos syndrome.OBJECTIVE: ehlers-danlos syndrome (EDS) is a complex hereditary connective tissue disorder with neurologic manifestations that include cerebrovascular disorders and chronic pain. The clinical data collected on 18 patients with EDS and chronic headaches is reported. PROCEDURE: Clinical history, neurologic examination, computerized tomography of the head, magnetic resonance imaging (MRI) of the brain, and electroencephalogram (EEG). Headaches were classified according to the International headache Society and the patients were followed by the author for a minimum of 2 years. FINDINGS: Four patients had migraine with aura, four had migraine without aura, four had tension headaches, four had a combination of migraine and tension headaches, and two had post-traumatic headaches. Nine patients exhibited blepharoclonus but none had history of seizures and their EEGs were normal, ruling out eye closure epilepsy. Although one patient had a small right frontal angioma, a second had Arnold Chiari malformation type I, and a third had an old stroke, headaches did not clinically correlate with their central nervous system (CNS) lesions. CONCLUSION: Chronic recurrent headaches may constitute the neurologic presentation of EDS in the absence of structural, congenital, or acquired CNS lesions that correlate with their symptoms. Individuals with EDS may be prone to migraine due to an inherent disorder of cerebrovascular reactivity or cortical excitability. Additional studies are needed to elucidate the pathogenesis of headaches in EDS.- - - - - - - - - - ranking = 2.5994570709507keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/19. Migraine-associated vomiting and asystole in a child.A variety of symptoms that accompany migraine in the child and adult are mediated by the autonomic nervous system. Significant effects on cardiac rhythm are uncommon, but can be life threatening. We describe a 3-year-old girl in whom migraine-associated vomiting precipitated cardiac asystole which was effectively treated with a cardiac pacemaker.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
4/19. Primary angiitis of the central nervous system in children: 5 cases.We describe 5 children who meet criteria for primary angiitis of the central nervous system (PACNS). All patients presented with headache and/or focal neurologic deficits and exhibited clinical and/or radiographic evidence of disease progression. Two patients had disease progression prior to combined treatment with cyclophosphamide and corticosteroids; one progressed while receiving intravenous cyclophosphamide and stabilized after a change to daily oral dosing; one progressed after discontinuing therapy after less than 12 months and improved after retreatment; and one progressed on steroid therapy alone but was lost to followup. Children who have frequent or severe headaches or focal neurologic deficits should be carefully evaluated and those meeting criteria for PACNS should be treated aggressively.- - - - - - - - - - ranking = 12.997285354754keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/19. Pseudomigraine with prolonged aphasia in a child with cranial irradiation for medulloblastoma.We report a 12-year-old child with episodes of migraine-like headaches with visual and motor auras a year after the surgical resection and radiation therapy for medulloblastoma The patient presented with an episode of headache, prolonged aphasia, right hemiparesis, status epilepticus, and salt wasting. There was no evidence of a structural lesion. The neurologic deficits resolved over a period of 6 weeks. Because of the progressive deterioration in neurologic deficits, the patient underwent an extensive battery of laboratory tests and multiple neuroimages, all of which were normal. The unusually prolonged neurologic deficit in this patient without demonstrable structural lesions and his eventual complete recovery were most likely caused by ischemia in the left hemisphere secondary to vasospasm. This presentation mimics migraine headache. Evidence suggesting that this represents a long-term complication of treatment of children with central nervous system neoplasia is presented.- - - - - - - - - - ranking = 2.5994570709507keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/19. Hemicrania continua.Unilateral throbbing headaches may present similar signs and symptoms as dental pathology and are a diagnostic challenge for dental practitioners. Cases may be seen with a primary complaint of unilateral pain or referred by medical colleagues for exclusion of dental causes. In the present article the authors add a new case of hemicrania continua (HC), which is one such unilateral headache, and review the previously published cases. HC is relatively easy to treat since it responds completely to treatment with indomethacin. However, as is presented in this case, HC may masquerade as dental pain. Cases secondary to trauma, systemic disease, and nervous system pathology have been described in the literature, and the clinician must exclude these possible causes. A thorough knowledge of this entity is therefore essential.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
7/19. Extracephalic stabbing pain temporally related to cephalic ones.A 23-year-old woman consulted with the complaint of short-lasting, severe stabbing headaches and mild-to-moderate degree near-daily migrainous headaches. Further questioning revealed that she also had stabbing pain on both ipsilateral hand and calf. Stabs on the hand were time-locked to cephalic ones and stabs in the calf were alternating with the ones in the hand. dizziness and scotomas were accompanying symptoms to cephalic ones and paresthesia was the accompanying symptom in the hand. Patient's cephalic and extracephalic stabbing pains responded to indomethacine and daily headaches responded to prophylactic sodium valproate therapy. The stabs were felt in the head; hand and calf are considered as the parts of a whole. Along with its accompanying symptoms, stabbing pain may be the result of complex interactions in central nervous system.- - - - - - - - - - ranking = 2.5994570709507keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/19. Migraine headache induced recurrent atrial fibrillation: a case report.A variety of symptoms that accompany migraine are mediated by the autonomic nervous system. The autonomic nervous system has long been known to play a potentially important role in the occurrence of atrial fibrillation. Clinically significant effects on cardiac rhythm are uncommon during migraine attacks. In the present case, we report a man who experienced recurrent episodes of atrial fibrillation, which were likely secondary to the vomiting component of migraine.- - - - - - - - - - ranking = 2keywords = nervous system (Clic here for more details about this article) |
9/19. The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA.phosphoglycerate kinase (PGK) deficiency is a rare X-linked disease that is characterised by mild to severe haemolytic anaemia, rhabdomyolysis, and variable defects in the central nervous system. In a white American family, two sons presented with haemolytic anaemia, seizures, and developmental delay. The diagnosis of PGK deficiency was made based on the remarkably low (<5% of normal) erythrocyte PGK enzyme activity level and the identification of a missense (c. 491A --> T) PGK1 gene mutation. This mutation results in an Asp164Val amino acid substitution, which has previously been designated PGK-Amiens and PGK-new york. The two new patients have the full clinical syndrome of PGK deficiency including haemolytic anaemia, developmental delay and seizures, and in the proband, hemiplegic migraines, retinal dystrophy and muscle fatigue. The PGK-Amiens/new york mutation had previously been found in a French patient and also in a large Chinese-Australian kindred, indicating that either the c. 91A --> T mutation is a recurrent mutation or that there is shared ancestry between the patients that have been identified so far with the mutation. Haplotype analysis of the c. 91A --> T mutation indicated that this was a recurrent mutation.- - - - - - - - - - ranking = 2.5994570709507keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/19. Neurotologic findings in basilar migraine.Treatment of a patient with otologic symptoms and associated migraine-like headache presents the otolaryngologist with formidable problems. Although clinical practice and scientific publications recognize their frequent association, relationships have yet to be well defined. This study seeks to add order to disarray by delineating symptoms and signs of a clearly identified group of migraine patients. Fifty patients with well-defined basilar migraine underwent a thorough neurotologic examination, as well as comprehensive auditory and vestibular testing. patients were selected from 5880 patients seen over a 2-year period and were prospectively entered into the study after detailed questionnaires and testing were completed for each patient. The most common symptoms found were dysequilibrium, phonophobia, and head pressure. The most common signs were positional nystagmus, low-frequency hearing loss, abnormal loudness discomfort level, and an abnormality on caloric examination. Advanced vestibular testing showed abnormal amplitude scaling, abnormal toes-down pertubation, and an abnormal sway (condition 6) on dynamic posturography. There was frequently an asymmetry on computerized rotation. The author concludes that the majority of patients have subtle findings on testing, but a few have severe peripheral injury due to the basilar migraine. Findings are consistent with the theory that basilar migraine is a central nervous system maladaptation syndrome which creates otoneurologic symptoms and, in a small percentage of cases, may injure the peripheral end-organ.- - - - - - - - - - ranking = 2.5994570709507keywords = central nervous system, nervous system (Clic here for more details about this article) |
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