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Familial Hemiplegic Migraine Presenting as Recurrent Encephalopathy in a Native Indian Family
Author(s) -
Spacey Sian D.,
Vanmolkot Kaate R. J.,
Murphy Colleen,
Van Den Maagdenberg Arn M. J. M.,
Hsiung Robin G. Y.
Publication year - 2005
Publication title -
headache: the journal of head and face pain
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.14
H-Index - 119
eISSN - 1526-4610
pISSN - 0017-8748
DOI - 10.1111/j.1526-4610.2005.00249.x
Subject(s) - familial hemiplegic migraine , migraine with aura , encephalopathy , migraine , hemiparesis , aura , medicine , family history , coma (optics) , pediatrics , genetics , psychiatry , biology , lesion , physics , optics
Background.—Familial hemiplegic migraine (FHM) is an autosomal dominant disorder, which can result from mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes. Typically, FHM presents with an aura of hemiplegia accompanied by a moderate‐to‐severe headache. FHM can be associated with other neurological findings including coma and seizures. Methods.—We describe the clinical and genetic features of a two‐generation, seven‐member Native Indian family with recurrent encephalopathy and FHM. Results.—Two of the three affected family members presented initially with encephalopathy, the third family member presented with classic episodes of migraine and hemiparesis. The CACNA1A gene locus was excluded in this family by haplotype analysis and no mutations were identified in the coding region of the ATP1A2 gene by direct sequencing. Conclusions.—This emphasizes the genetic and clinical heterogeneity in familial hemiplagic migraine FHM and highlights the need to consider the diagnosis of FHM in cases of recurrent encephalopathy.