A Novel PDE8B Gene Variant Associated with Autosomal Dominant Striatal Degeneration

Mov Disord Clin Pract. 2024 Aug;11(8):1044-1046. doi: 10.1002/mdc3.14129. Epub 2024 May 31.

Authors

Natalia Chunga¹, Kelly Minks¹, David L Sell¹, Nami Shah¹, Jennifer Corcoran¹, Richard L Barbano¹, Ruth B Schneider^{1

2}

Affiliations

¹ Department of Neurology, University of Rochester, Rochester, New York, USA.
² Center for Health + Technology, University of Rochester, Rochester, New York, USA.

PMID: 38818539
PMCID: PMC11329562 (available on 2025-05-31)
DOI: 10.1002/mdc3.14129

No abstract available

Keywords: PDE8B gene; autosomal dominant striatal degeneration (ADSD); dystonia.

Publication types

Letter
Case Reports

MeSH terms

3',5'-Cyclic-AMP Phosphodiesterases* / genetics
Adult
Corpus Striatum / pathology
Female
Humans
Male
Middle Aged
Neurodegenerative Diseases / genetics
Neurodegenerative Diseases / pathology

Substances

PDE8B protein, human
3',5'-Cyclic-AMP Phosphodiesterases