Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia.

ABSTRACT:

Background

KCNJ10 and CAPN1 variants cause "spinocerebellar" ataxia in dogs, but their association with generalized myokymia and neuromyotonia remains unclear.

Objective

To investigate the association between KCNJ10 and CAPN1 and myokymia or neuromyotonia, with or without concurrent spinocerebellar ataxia.

Animals

Thirty-three client-owned dogs with spinocerebellar ataxia, myokymia neuromytonia, or a combination of these signs.

Methods

Genetic analysis of a cohort of dogs clinically diagnosed with spinocerebellar ataxia, myokymia or neuromyotonia. KCNJ10 c.627C>G and CAPN1 c.344G>A variants and the coding sequence of KCNA1, KCNA2, KCNA6, KCNJ10 and HINT1 were sequenced using DNA extracted from blood samples.

Results

Twenty-four Jack Russell terriers, 1 J

SUBMITTER: Vanhaesebrouck A 

PROVIDER: S-EPMC10658559 | biostudies-literature | 2023 Nov-Dec

REPOSITORIES: biostudies-literature