A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration

ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) is a human neurological disorder characterized by progressive cerebellar ataxia and peripheral neuropathy. A recently recognized disorder in Great Pyrenees dogs is similarly characterized by widespread central nervous system degeneration leading to progressive cerebellar ataxia and spasticity, combined with peripheral neuropathy. Onset of clinical signs occurred in puppies as young as four months of age, with slow progression over several years. A multi-generation pedigree suggested an autosomal recessive mode of inheritance. Histopathology revealed consistent cerebellar Purkinje cell degeneration, neuronal degeneration in brainstem nuclei, widespread spinal cord white matter degeneration, ganglion cell degeneration, inappropriately thin myelin sheaths or fully demyelinated peripheral nerve fibers, and normal or only mild patterns of denervation atrophy in skeletal muscles. Genome-wide single nucleotide polymorphism (SNP..., , , # Data from: A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration

This dataset contains 170K Illumina canine SNP array data from 34 Great Pyrenees dogs. The data is formatted in binary files, ready to go into PLINK. Six dogs are affected with neuronal degeneration, with the remainder as controls (or phenotype uncertain, n = 2). A modified homozygosity mapping approach allowed the identification of a region segregating in an autosomal recessive manner with affected dogs.

## Description of the data and file structure

The files are in standard binary format: .bim, .bed, and .fam, which are ready to go into PLINK.

GP_Final.bed

GP_Final.bim

The .bim and .bed files together (in PLINK) contain all of the SNP genotypes for each of the 34 dogs. These are raw files, and the SNP data has not been pruned for quality control.

GP_Final.fam

The .fam file is formatted in a typical linkage format, with the following columns: Family ID, Individual ID, Si...,