Objective: The present study aim to describes 4 patients of the same family with ataxia and migraine. In 2 of them sequencing analysis was positive for heterozygous mutation in the CACNA1A gene.

Background: Some genes encoding ion channel-related proteins and glutamate transporter are related with paroxysmal neurological disorders. Different mutations in the CACNA1A gene, which encodes the the α1A subunit of the P/Q-type voltage-gated calcium channel, were identified in patients with Episodic Ataxia Type 2, Familial Hemiplegic Migraine Type 1, Spinocerebellar Ataxia Type 6 and Epileptic Encephalopathy.

Method: Data from 4 patients of the same family was retrospectively analyzed. The records of patients were generated in regular appointments between January 2006 and November 2018.

Results: Case 1: 27 year-old man presented with impairment in writing, balance and gait . He also suffered migraine attacks. Examination demonstrated  dysarthria, mild gait ataxia. Brain magnetic resonance imaging (MRI) revealed cerebellar volume reduction. Screening was negative for inborn errors of metabolism, peroxisomal disorders and lysosomal storage disease. Gene panel identified heterozygous c.1748G> A, p (Arg583Gln) mutation in the CACNA1A gene. Case 2: 23 year-old woman presented with tremor and impairment in writing, speech, balance and gait. She also reported migraine. Examination demonstrated dysarthria, dysmetria, abasia and gait ataxia. MRI revealed cerebellar volume reduction. Gene panel identified the same heterozygous mutation in the CACNA1A gene. Case 3: 22 year-old woman presented with increasing impairment in balance and gait since childhood. She also suffered migraine attacks. Examination demonstrated strabismus, dysmetria and mild abasia. MRI revealed cerebellar volume reduction. Screening blood tests was negative. Ataxia gene panel was not performed. Case 4: 60 year-old woman presented with cephalic tremor and imbalance for four decades. She not reported migraine. Examination demonstrated dysarthria, dysmetria, dysdiadochokinesia, abasia and gait ataxia. MRI, blood tests and gene panel were not performed.

Conclusion: We report case series of the same family presenting heterogeneous spectrum of non-episodic ataxia with slow progression. Two of them performed molecular test that revealed heterozygous c.1748G> A, p (Arg583Gln) mutation in the CACNA1A gene. Maybe this is the first report of  this mutation in a Brazilian family.

« Back to 2019 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/ataxia-by-mutation-in-cacna1a-gene-case-series/