GEO series

Multimodal characterization of sensorimotor peripheral neuropathy in a preclinical mouse model of SCA3

GSE320100 Mus musculus (mouse) RNA-seq (gene expression) 12 samples Submitted 2026/05/11 Platform GPL34328

At a glance

RNA-seq (gene expression) · mouse · 12 samples

What it is: RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism: Mus musculus (mouse)
Samples: 12 samples: 5 × Q84, F, vs 3 × WT, M, vs 3 × WT, F,Groups are read from the sample names, not from the paper. Check the list below.
Data you can get: A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.

Summary (written by the submitters)

Spinocerebellar ataxia type 3 (SCA3) is the most common dominantly inherited ataxia caused by a toxic gain-of-function CAG expansion in ATXN3. Currently, no effective preventive or disease-modifying treatments exist for this uniformly fatal disorder. This progressive, multisystem disorder is typified by neuronal degeneration and demyelination of critical parts of the central nervous system.

Read the full summary ↓

Additionally, more than half of individuals with SCA3 also exhibit peripheral neuropathy symptoms like reduced limb sensation or burning pains, significantly impacting quality of life and contributing to mobility impairments. However, exploration into cell types and disease mechanisms underlying the SCA3 peripheral nervous system abnormalities remains limited by lack of comprehensive SCA3 animal model characterizations. This study employs the transgenic full-length human mutant ATXN3 YACQ84 (Q84/Q84) mouse to assess progression of sensorimotor behaviors, nerve conduction abnormalities, and ultrastructural features of neuropathy. Nerve conduction studies in Q84/Q84 mice show prominent sensorimotor nerve conduction velocity reductions in the sciatic and sural nerves and blunted signal amplitudes in the sural nerve, suggestive of axon loss and demyelination. Behaviorally, Q84/Q84 mice display abnormal responses to thermal and mechanical stimuli. Histological analysis of Q84/Q84 peripheral nerves reveals combined neuronal and glial pathology, characterized by loss of both large myelinated and small unmyelinated fibers, alongside demyelination pathologies. Bulk analyses of Q84/Q84 dorsal root ganglia and sciatic nerves revealed sensory neuropathy-related transcriptional and splicing dysregulation spanning diverse somatosensory pathways. Our results characterize significant peripheral neuropathy in a representative SCA3 mouse model, providing a strong foundation for future mechanistic and therapeutic studies of peripheral neuropathy in SCA3.

This dataset

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Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

Series matrix ↓

2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE320100_RAW.tar (it can run to tens of gigabytes).

All supplementary files ↗ Whole study · RAW.tar ↓

3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

Raw reads on ENA ↗

What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1426384 and SRA study SRP678426. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗

Study design

5 × Q84, F, vs 3 × WT, M, vs 3 × WT, F,

Supports a between-group comparison across 11 samples.

How we read this: 3 replicated groups read from 12 sample titles; they account for 11 of them. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study

GSM9534413 WT, M, Rep 1 WT, M,
GSM9534414 WT, M, Rep 2 WT, M,
GSM9534415 WT, M, Rep 3 WT, M,
GSM9534416 WT, F, Rep 1 WT, F,
GSM9534417 WT, F, Rep 2 WT, F,
GSM9534418 WT, F, Rep 3 WT, F,
GSM9534419 Q84, M, Rep 1
GSM9534420 Q84, F, Rep 1 Q84, F,
GSM9534421 Q84, F, Rep 2 Q84, F,
GSM9534422 Q84, F, Rep 3 Q84, F,
GSM9534423 Q84, F, Rep 4 Q84, F,
GSM9534424 Q84, F, Rep 5 Q84, F,

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