239  New de novo mutation in CACNA1a gene leading to episodic ataxia type 2. Issue 6 (27th May 2022)

• Record Type: Journal Article
• Authors: Coulden, Amy; Wu, Kit; Joe, Dorothy; Watkins, Susanne; Chaudhuri, Kallol Ray; Sztriha, Laszlo
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 93:Issue 6(2022)
• Page Start: A82
• Page End: A82
• Publication Date: 2022-05-27
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2022-ABN.268
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Introduction and Aim : Episodic ataxia (EA) is a group of inherited ion channel disorders affecting the cer- ebellum characterised by sporadic episodes of ataxia (Riant et al, 2011; Tomlinson et al, 2013). At least 7 different types have been identified, type 2 being the most common. We describe a patient present- ing with recurrent episodes of dizziness and gait disturbance with a novel mutation in CACNA1a gene (c.586del) leading to episodic ataxia type 2. Clinical presentation: A 65-year old male presented with recurrent episodes of dizziness and gait distur- bance, which had been present since childhood but increased in severity over last 2 years and leading to hospitalisation. He also reported mild cognitive impairment. Examination showed bilateral horizontal jerky nyastagmus with an otherwise normal neurological examination. Investigations: Neuroimaging studies showed mild small vessel disease. Genetic sequencing revealed a heterogenicity for the c.586del likely pathogenic frameshift mutation in exon 4 of the CACNA1A gene, resulting in targeting of the mRNA for nonsense- mediated decay or the production of a truncated protein leading to the diagnosis of autosomal dominant episodic ataxic type 2 in this patient. Summary: We report a new de novo mutation in CACNA1a gene leading to episodic ataxia type 2. The patient was given acetazolamide (250mg/day) which improved his symptoms. Episodic ataxia should be considered in patients presenting with a history of intermittent dizziness. [e-mail]