Genes, Vol. 11, Pages 774: Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED)

Genes, Vol. 11, Pages 774: Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED) Genes doi: 10.3390/genes11070774 Authors: Jasmin Nessler Petra Hug Paul J. J. Mandigers Peter A. J. Leegwater Vidhya Jagannathan Anibh M. Das Marco Rosati Kaspar Matiasek Adrian C. Sewell Marion Kornberg Marina Hoffmann Petra Wolf Andrea Fischer Andrea Tipold Tosso Leeb Four female Shetland Sheepdogs with hypertonic paroxysmal dyskinesia, mainly triggered by exercise and stress, were investigated in a retrospective multi-center investigation aiming to characterize the clinical phenotype and its underlying molecular etiology. Three dogs were closely related and their pedigree suggested autosomal dominant inheritance. Laboratory diagnostic findings included mild lactic acidosis and lactaturia, mild intermittent serum creatine kinase (CK) elevation and hypoglycemia. Electrophysiological tests and magnetic resonance imaging of the brain were unremarkable. A muscle/nerve biopsy revealed a mild type II fiber predominant muscle atrophy. While treatment with phenobarbital, diazepam or levetiracetam did not alter the clinical course, treatment with a gluten-free, home-made fresh meat diet in three dogs or a tryptophan-rich, gluten-free, seafood-based diet, stress-reduction, and acetazolamide or zonisamide in the fourth dog correlated with a partial reduction in, or even a complete absence of, dystonic episodes. The g...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research