New paper for Adam Sprous-Blum

Congratulations to Adam Sprouse-Blum, MD, Assistant Professor of Neurology and doctoral candidate in CTS. He and colleagues just published their work on familial migraine.

Headache. 2020 Jan 22. doi: 10.1111/head.13741. [Epub ahead of print]

Familial "Diplegic" Migraine - Description of a Family With a Novel CACNA1A Mutation.

Sprouse Blum AS¹, Couperus CJ², Rosen BJ², Haskin-Leahy LF³, Shapiro RE¹.

OBJECTIVE:

To characterize phenotypes of a novel CACNA1A mutation causing familial hemiplegic migraine type 1.

BACKGROUND:

Familial hemiplegic migraine is a rare monogenic form of migraine associated with attacks of fully reversible unilateral motor weakness. We now report a novel CACNA1A gene mutation associated with fully reversible bilateral motor weakness (diplegia).

METHODS:

The proband underwent genotyping which identified a novel CACNA1A missense mutation (c.622 [isoform 1] G > A [p.Gly208Arg]). To characterize phenotypes associated with this novel mutation, the proband and 8 of her similarly affected family members underwent a semi-structured interview.

RESULTS:

All 9 subjects who were interviewed met ICHD-3 phenotypic diagnostic criteria for FHM, including reporting attacks with reversible unilateral motor weakness. Additionally, 7 of 9 subjects reported attacks including reversible motor weakness affecting both sides of the body simultaneously.

CONCLUSIONS:

We describe a novel CACNA1A mutation associated with migraine attacks including reversible diplegia.

© 2020 American Headache Society.    DOI: 10.1111/head.13741