Diverse regional mechanisms drive spinocerebellar ataxia type 1 phenotypes

Alexandra F Putka; Hayley S McLoughlin

doi:10.1016/j.neuron.2023.01.021

Diverse regional mechanisms drive spinocerebellar ataxia type 1 phenotypes

Neuron. 2023 Feb 15;111(4):447-449. doi: 10.1016/j.neuron.2023.01.021.

Authors

Alexandra F Putka¹, Hayley S McLoughlin²

Affiliations

¹ Department of Neurology, University of Michigan, Ann Arbor, MI 48109-2200, USA; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI 48109, USA.
² Department of Neurology, University of Michigan, Ann Arbor, MI 48109-2200, USA. Electronic address: hayleymc@med.umich.edu.

PMID: 36796325
DOI: 10.1016/j.neuron.2023.01.021

Abstract

In this issue of Neuron, a pair of studies (Handler et al.¹ and Coffin et al.²) elucidate new insights into spinocerebellar ataxia type 1 (SCA1) pathogenesis by genetically assessing mechanistic drivers of regional vulnerability and their relationships to SCA1 phenotypes.

Published by Elsevier Inc.

Publication types

Research Support, N.I.H., Extramural
Comment

MeSH terms

Humans
Neurons / pathology
Phenotype
Spinocerebellar Ataxias* / genetics
Spinocerebellar Ataxias* / pathology

Grants and funding

R01 NS122751/NS/NINDS NIH HHS/United States