Biomedical subjects
Publications and source records attributed to David F Black.
We report the case of a woman with an apparent primary thunderclap headache which occurred frequently until she achieved a therapeutic dosage of gabapentin. Primary thunderclap headache is a rare type of headache that warrants significant testing to rule out more ominous possibilities. Whether gabapentin may help other primary thunderclap headache sufferers or not remains unclear. Further research is needed.
BACKGROUND: SUNCT is a rare primary headache disorder that is associated with activation of the posterior hypothalamus and often poorly responsive to medication. Recently, a relationship between between pituitary microadenoma and SUNCT has been suggested, and reports of both amelioration and exacerbation by dopamine-agonists have been published. These findings suggest a functional role for the hypothalamic-pituitary axis in SUNCT. METHODS: We report the long-term 4 year follow-up of a 35 year-old patient with a 14-year history of medically and surgically intractable SUNCT who experienced immediate and complete resolution of symptoms after resection of a 6 mm pituitary microadenoma. RESULTS: This patient was first seen at the age of 28 years with a 10-year history of attacks of right retro-orbital pain satisfying the IHS criteria for SUNCT. Many medical and surgical treatments were attempted without success. An MRI demonstrated a 6 mm microadenoma without compression of surrounding structures. A trial of bromocriptine caused marked exacerbation of his pain. The patient underwent a trans-sphenoidal resection of the pituitary lesion. SUNCT attacks worsened for the first 24h post-operatively, then disappeared. He has been completely headache-free, without medication, for the past 43 months with the last follow-up being January 2006. CONCLUSION: This case emphasizes the relationship between pituitary microadenomas and SUNCT, supports the role of the hypothalamic-pituitary axis in the genesis of SUNCT, and illustrates the importance of careful imaging of the pituitary region in patients with SUNCT.
Familial hemiplegic migraine (FHM) is a rare autosomal dominantly inherited subtype of migraine, in which hemiparesis occurs during the aura. The majority of the families carry mutations in the CACNA1A gene on chromosome 19p13 (FHM1). About 20% of FHM families is linked to chromosome 1q23 (FHM2), and has mutations in the ATP1A2 gene, encoding the alpha2-subunit of the Na,K-ATPase. Mutation analysis in a Dutch and a Turkish family with pure FHM revealed two novel de novo missense mutations, R593W and V628M, respectively. Cellular survival assays support the hypothesis that both mutations are disease-causative. The identification of the first de novo mutations underscores beyond any doubt the involvement of the ATP1A2 gene in FHM2.
Hemiplegic migraine is a rare subtype of migraine with aura associated with transient hemiplegia. The weakness is caused by motor aura. Hemiplegic migraine is the only headache syndrome associated with known genetic mutations and serves as a model for understanding more common varieties of migraine. Because the phenotype includes striking yet transient neurological signs and symptoms, it is imperative that clinicians know the differential diagnosis to rule out possible secondary etiologies when treating patients with hemiplegic spells. Hemiplegic migraine occurs with equal prevalence in either a sporadic or familial form differentiated only by family history. Thus far, treatment trials are anecdotal, although verapamil and acetazolamide have shown promise.
There is considerable overlap in the mechanisms mediating migraine headache pain and sustained opioid-induced paradoxical pain. Both involve upregulation of calcitonin gene-related peptide and increased excitability of dorsal horn neurons. Descending facilitation from the rostral ventromedial medulla may contribute to this increased excitability. Using special magnetic resonance imaging techniques, high iron levels were found in the periaqueductal gray of patients with chronic daily headache with medication overuse. The periaqueductal gray is the center of a powerful descending antinociceptive neuronal network and projects to the rostral ventromedial medulla and subsequently to the dorsal horn. The periaqueductal gray is also involved in the behavioral response to opiate withdrawal. Dysfunction in the periaqueductal gray may explain why frequent analgesic use can result in medication overuse headache in migraineurs. Management of transformed migraine with medication overuse involves patient education, biobehavioral therapy, withdrawal of overused acute medications, bridge therapy for withdrawal headache, initiation of preventive medication, and close follow-up.
The incidence of medically recognized cluster headache within Olmsted County, Minnesota, from 1989 through 1990, was determined by using modified International Headache Society criteria. The results were compared with previously published incidence data from 1979 through 1981. The overall age- and sex-adjusted incidence decreased from 9.8/100,000 person-years in 1979-1981 to 2.07/100,000 person-years in 1989-1990.
The authors report a 50-year-old man with progressive left hemispheric atrophy, cognitive decline, infrequent seizures, and spells suggestive of complicated migraine. They discuss the association between migraine and cerebral hemiatrophy and suggest that the spectrum of acquired cerebral hemiatrophy may be broader than what has been commonly recognized.
Hemiplegic migraine may be familial or sporadic. Both forms share a similar spectrum of clinical presentations and genetic heterogeneity. Current data support the concept that sporadic and familial cases should be thought of as similar, but separate disorders. Sporadic cases are more difficult to diagnose and often require several investigations to rule out more ominous possibilities. Therapeutic options are limited, but future genetic research may elucidate pathophysiologic mechanisms that may, in turn, yield more specific treatments.
We report the occurrence of unilateral cerebral hemisphere edema with subsequent cortical laminar necrosis in the setting of familial hemiplegic migraine (FHM) and permanent neurologic sequelae after resolution of an attack in 1 patient. Contemporaneous with this severe attack of FHM, the patient was found to exhibit multiple systemic and neurological symptoms referable to Erdheim-Chester disease (a rare non-Langerhans cell histiocytosis) that was confirmed by bone biopsy. This case demonstrates the severity possible with a migrainous infarction associated with FHM. The co-occurrence of two such rare entities in 1 patient suggests a possible relationship.
Familial hemiplegic migraine (FHM) is a rare, severe, autosomal dominant subtype of migraine with aura. Up to 75% of FHM families have a mutation in the P/Q-type calcium channel Ca(v)2.1 subunit CACNA1A gene on chromosome 19p13. Some CACNA1A mutations also may cause epilepsy. Here, we describe novel missense mutations in the ATP1A2 Na(+),K(+)-ATPase pump gene on chromosome 1q23 in two families with FHM. The M731T mutation was found in a family with pure FHM. The R689Q mutation was identified in a family in which FHM and benign familial infantile convulsions partially cosegregate. In this family, all available affected family members with FHM, benign familial infantile convulsions, or both, carry the ATP1A2 mutation. Like FHM linked to 19p13, FHM linked to 1q23 also involves dysfunction of ion transportation and epilepsy is part of its phenotypic spectrum.
Increasingly sophisticated neuroimaging techniques have allowed researchers to begin to define functional and anatomical characteristics of migraine. This paper reviews current knowledge and techniques employed. Assessing present-day knowledge limitations it concludes that with parallel advances in the technology of imaging and the pathophysiologic understanding of migraine, a reliable biomarker may be discovered in the future.