CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report

We report the clinical characteristics and genetic analysis of 12 patients belonging to a family withCACNA1A-p.Thr501Met gene mutation.MethodsWe screened for mutations inCACNA1A gene 15 patients belonging to the same family. The exonic sequences ofCACNA1A were analyzed using a Tru-seq ® Custom Amplicon (TSCA) (Illumina Inc., San Diego, CA) targeted capture and paired end library kit. Sanger sequencing was used to confirmCACNA1A variants and segregation analysis.ResultsCACNA1A-p.Thr501Met mutation was found in 12 of the 15 patients screened, which was compatible with the diagnosis of FHM1.Attacks of hemiplegic migraine were reported by 10 of the 12 subjects (83.33%). Only one subject developed persistent mild cerebellar symptoms and none of the subjects developed cerebellar atrophy.DiscussionThe variant p.Thr501Met was described previously in association with episodic ataxia and rarely with FHM related to cerebellar symptoms. FHM1 has a broad clinical spectrum and about half of the families have cerebellar involvement. In our study, only one patient developed persistent cerebellar deficits.These data suggest thatCACNA1A-p.Thr501Met mutation can occur prevalently as hemiplegic migraine.

Source: The Journal of Headache and Pain - July 28, 2021 Category: Neurology Source Type: research