Clinical and Genetic Features of Familial Hemiplegic Migraine

Migraine is a common cause of episodic headache disorder, and multiple factors are associated with the pathogenic mechanism underlying migraine. Recent studies suggest that genetic determinants influence migraine, most likely as part of a multifactorial mechanism. Due to the similarity in clinical features and pathophysiological mechanisms between familial hemiplegic migraine (FHM) and migraine with aura, FHM can be used as a model for migraine and aura. Mutations in the CACNA1A gene on chromosome 19p13 (FHM1), in the ATP1A2 gene at 1q23 (FHM2), and in the SCNA1A gene at 2q24 (FHM3) are responsible for most of the representative types of FHM. The recent beta version of the third edition of the International Classification of Headache Disorders contains revised diagnostic criteria for FHM, which include the above-three genetic factors. In this review we discuss the clinical and genetic features of FHM.

Clinical and Genetic Features of Familial Hemiplegic Migraine

Migraine is a common cause of episodic headache disorder, and multiple factors are associated with the pathogenic mechanism underlying migraine. Recent studies suggest that genetic determinants influence migraine, most likely as part of a multifactorial mechanism. Due to the similarity in clinical features and pathophysiological mechanisms between familial hemiplegic migraine (FHM) and migraine with aura, FHM can be used as a model for migraine and aura. Mutations in the CACNA1A gene on chromosome 19p13 (FHM1), in the ATP1A2 gene at 1q23 (FHM2), and in the SCNA1A gene at 2q24 (FHM3) are responsible for most of the representative types of FHM. The recent beta version of the third edition of the International Classification of Headache Disorders contains revised diagnostic criteria for FHM, which include the above-three genetic factors. In this review we discuss the clinical and genetic features of FHM.

Familial Hemiplegic Migraine with Prolonged Coma and Cerebellar Atrophy: CACNA1A T666M Mutation in a Korean Family

We report the first Korean patient with familial hemiplegic migraine type 1, with clinical and multimodal imaging findings. A 43-yr-old man was admitted for right hemianopia and aphasia, followed by coma. MRI showed only cerebellar atrophy. CT angiography showed mild vasodilation of intracranial blood vessels and increased vascularity in the left hemisphere and perfusion-weighted imaging showed elevated cerebral blood flow. Gene analysis of the patient and his mother led to the identification of a heterozygous point mutation (1997C-->T, T666M) in exon 16 of the CACNA1A gene. Familial hemiplegic migraine should be considered in patients with episodic neurological dysfunction with cerebellar atrophy.

A Case of Familial Hemiplegic Migraine / 대한소아신경학회지

Familial hemiplegic migraine(FHM) is an autosomal dominant subtype of migraine with aura, characterized by the occurrence of hemiplegia during the aura. Two subforms of FHM families exist; pure FHM in 80% and FHM families with cerebellar symptoms in 20%. Half of the known FHM families show genetic linkage to chromosome 19p13, and in these families FHM is caused by missense mutations in a neuronal P/Q type calcium channel alpha-1 subunit gene(CACNA1A gene). Linkages to 1q31 and 1q21-23 have also been established. Other families are linked neither to chromosome 19 nor 1. Clinical variabilities are partially associated with the various types of CACNA1A gene mutations. FHM is distinguished from more frequent migraine types by a clear, dominant inheritance pattern and the relative absense of other headache types. Further investigation of FHM will help to clarify the genetics of more common migraine. We describe a male patient with FHM with a brief review of the literature.