Abstract: Familial hemiplegic migraine is a rare autosomal dominant subtype of migraine with aura. Three genes have been identified, all involved in ion transport. There is considerable clinical variation associated with FHM mutations. Genotype-phenotype correlation studies are needed, but are challenging mainly because the number of carriers of individual mutations is low. One exception is the recurrent T666M mutation in the FHM1 CACNA1A gene that was identified in almost one-third of FHM families and showed variable associated clinical features and severity, both within and among FHM families. Similar studies in the FHM2 ATP1A2 gene have not been performed because of the low number of carriers with individual mutations. Here we report on the recurrence of ATP1A2 mutations M731T and T376M that affect sodium-potassium pump functioning in two Portuguese FHM families. Considerably increasing the number of mutation carriers with these mutations indicated a clear genotype-phenotype correlation: both mutations are associated with pure FHM. In addition, we show that recurrent mutations for ATP1A2 are more frequent than previously thought, which has implications for genotype-phenotype correlations and genetic testing.
Abstract: Hypnic headache is a rare form of primary headache with attacks occurring exclusively with sleep. As it is typical of the elderly, a wide range of alternative diagnosis must be considered. We present a case report of a 54-year-old woman with unsuspected secondary hypnic headache that was relieved by anti-hypertensive therapy. We reviewed the literature to evaluate the usual diagnostic workup performed in hypnic headache patients. We suggest that 24 h ambulatory blood pressure monitoring may be included in the evaluation of nocturnal headache complaints especially in the elderly, in whom essential hypertension is a very frequent comorbidity.
Abstract: BACKGROUND: The occurrence of headaches during cerebral angiography or endovascular procedures is an ill-defined issue, as limited information is available to define its frequency, risk factors, pathogenesis and implications for future pain management. PURPOSE: To determine the frequency of headaches during endovascular procedures (HdEVP) and to define their characteristics and risk factors for their occurrence. METHODS: Prospective cross-sectional observational study of adult patients undertaking cerebral angiography or endovascular procedures, recording HdEVP clinical features, previous headache history and procedural variables. RESULTS: One hundred and twenty two procedures were evaluated. HdEVP occurred in 13 patients, both in diagnostic and therapeutic procedures. Pain was described as brief, stabbing or localized pressure of mild to moderate intensity, felt ipsilaterally to the manipulated vessel. Its occurrence was associated with therapeutic interventions (p = 0.007), female gender (p = 0.015) and previous history of more than 4 headache episodes per month (p = 0.018). CONCLUSION: HdEVP is an uncommon brief headache that should be further evaluated in the future. Its pathogenesis is probably related to mechanical vessel distension, which activates the trigeminovascular nociceptive system in susceptible individuals.
Abstract: Pain aggravation by movement and avoidance of movement (kinesiophobia) is often reported by patients during migraine attacks. Yet its specific contribution to migraine diagnosis is undetermined. To characterize the frequency and severity of kinesiophobia during migraine and its role in the diagnosis of primary headaches, we questioned 150 patients (126 women and 24 men, average age 38.5 yrs) with migraine (n = 111) or tension-type headache (TTH) (n = 39) about aggravation of pain by bending forward, brisk head movements (jolt), and avoidance of movement during the attacks. The degree of pain worsening by each stimulus was measured through a visual analog scale and compared to worsening produced by other sensory stimuli such as light, sound, and smell. The discrimination power of kinesiophobia between migraine and TTH was calculated, using the International Classification of Headache Disorders criteria as gold standard. Sensitivity/specificity of studied symptoms was high in differentiating the 2 headache types: bending forward: 98%/85.7%; jolt: 96.3%/81.6%; and immobility during the attacks: 100%/70%. The degree of kinesiophobia was identical to photo- and phonophobia in migraine patients. We conclude that kinesiophobia discriminates between migraine and TTH. Bending forward and jolt may be useful additional questions to ask patients for the differentiation of headache attacks. PERSPECTIVE: This article evaluates the specific role of movement (movement-induced pain aggravation and avoidance of movement) in primary headaches. Kinesophobia is an easy symptom to screen, explained by migraine pathophysiology, and proved to be a sensitive and specific measure to identify migraine attacks when compared to tension-type headache.
Abstract: Primary lateral sclerosis (PLS) is a very rare disease characterized by pure upper motor neuron findings. Although a number of previous reports have evaluated this condition, no study has addressed the respiratory function in PLS. Six patients meeting previously proposed diagnostic criteria for PLS were submitted to a number of respiratory tests: forced vital capacity, maximal pressures, phrenic nerve responses, needle electromyography of the respiratory muscles, percutaneous nocturnal oximetry (PNO) and polysomnography (two patients). Our results show that the diaphragm is not affected in this condition, but some respiratory function tests (RFT) and PNO had abnormal values. Voluntary muscular activation to perform RFT may be limited in these patients. PNO and polysomnography suggest that respiratory central drive dysfunction can occur when upper motor neurons are severely affected, in PLS. However, we did not verify progression on follow-up.
Abstract: BACKGROUND: Some patients with otherwise typical cluster headache (CH) have persistent attacks free of cranial autonomic symptoms (CAS). The factors responsible for this atypical presentation are not known. OBJECTIVES: To identify factors associated to the absence of CAS in patients with CH. METHODS: A prospective series of 157 patients with the diagnosis of CH was analyzed, comparing 148 typical CH patients with 9 CH patients without CAS. RESULTS: Patients without CAS reported significantly less intense attacks (P = .003) when compared to those with CAS. There was also a tendency (not reaching statistical significance) for a higher frequency of females and chronic CH among those without CAS. Otherwise, there were no differences between the two groups (in age, duration of illness, follow-up time, attack duration or frequency, nor side or site of pain). A logistic regression analysis showed that only pain intensity could explain the difference between the two groups, since the other explanatory variables were also associated with different intensity of attacks. CONCLUSIONS: These results support the hypothesis that CH without cranial autonomic symptoms represents a milder form of CH.
Abstract: Neuromuscular diseases are a known risk factor for immobilization-induced osteoporosis. The aim of the study was to analyse bone mineral density (BMD) in patients with familial amyloid polyneuropathy (FAP) type I (Val30 Met) and to compare them with a population of patients with other neuromuscular disorders. We studied 24, ambulatory, neuromuscular patients, all men and premenopausal women. We included 12 FAP patients (GI) and 12 patients with other disorders (GII). Clinical data included age, sex, height, weight, alcohol intake, smoking, calcium intake, physical activity and history of fractures. Serum and urinary calcium, osteocalcin, bone alkaline phosphatase, parathyroid hormone, thyroid stimulating hormone and urinary N-telopeptide cross-linked type 1 collagen were determined in all patients. Bone mineral density of lumbar spine, hip and wrist were determined by dual energy X-ray absorptiometry scan. No statistical differences were found in clinical or analytic data between the two groups, except for body mass index and calciuria, which were lower in GI. In GI, 54.5% were osteoporotic, against 23.1% in GII (P = 0.04). Bone mineral density was lower in GI when compared with GII, and tended to decrease with disease duration. Decreased BMI and the early autonomic involvement in GI probably explain the results. The prevention and early treatment of osteoporosis, in FAP patients should be considered a priority.
Abstract: The objective is to identify the pathogenesis of each autonomic manifestation in cluster headache (CH). Through a deductive statistics method (factor analysis) we analysed the type of autonomic symptoms reported by 157 CH patients. Three principal components were identified in the analysis: parasympathetic activation (lacrimation, conjunctival injection and rhinorrhoea), sympathetic defect (miosis and ptosis) and parasympathetic mediated effect (nasal congestion, eyelid oedema and forehead sweating). This work suggests that there are three different mechanisms underlying autonomic manifestations in CH.
Abstract: Although rarely, the usually benign, supratentorial, grade II astrocytic tumour pleomorphic xanthoastrocytoma (PXA) may arise from the cerebellum. A review of the published cases of these PXAs is made including the author's own case of a 40 years-old man with a right cerebellopontine angle tumour, which recurred after a gross total resection. The major clinical and histopathological features of cerebellar PXAs are discussed, and factors playing a role in their biological behaviour, like post-surgical medical treatment, genetics and extent of leptomeningeal seeding are stressed.
Abstract: Spontaneous Intracranial Hypotension is a rare syndrome, characterized by orthostatic headaches, low CSF pressure and characteristic aspects on MRI. The authors describe a clinical case of Spontaneous Intracranial Hypotension, in which the MRI investigation revealed a low position of the cerebellar tonsils, a diffuse and symmetric dural enhancement and an engorgement of the cervical epidural venous plexus. The authors make a review of the physiopathology, clinical and radiological aspects related to this syndrome.
Abstract: INTRODUCTION: Headache and refractive errors are very common conditions in the general population, and those with headache often attribute their pain to a visual problem. The International Headache Society (IHS) criteria for the classification of headache includes an entity of headache associated with refractive errors (HARE), but indicates that its importance is widely overestimated. OBJECTIVES: To compare overall headache frequency and HARE frequency in healthy subjects with uncorrected or miscorrected refractive errors and a control group. METHODS: We interviewed 105 individuals with uncorrected refractive errors and a control group of 71 subjects (with properly corrected or without refractive errors) regarding their headache history. We compared the occurrence of headache and its diagnosis in both groups and assessed its relation to their habits of visual effort and type of refractive errors. RESULTS: Headache frequency was similar in both subjects and controls. Headache associated with refractive errors was the only headache type significantly more common in subjects with refractive errors than in controls (6.7% versus 0%). It was associated with hyperopia and was unrelated to visual effort or to the severity of visual error. With adequate correction, 72.5% of the subjects with headache and refractive error reported improvement in their headaches, and 38% had complete remission of headache. Regardless of the type of headache present, headache frequency was significantly reduced in these subjects (t = 2.34, P =.02). CONCLUSIONS: Headache associated with refractive errors was rarely identified in individuals with refractive errors. In those with chronic headache, proper correction of refractive errors significantly improved headache complaints and did so primarily by decreasing the frequency of headache episodes.
