Christine Cooper

Dr. Christine Cooper

orcid

Research Focus & Metrics

Academic Career Length

8Years (2019-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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30 July 2024 in Parkinsonism & Related Disorders
Verified
Journal Article
Closed access
CYCherry H. Yu
Cherry H. Yu
FRFederico Rodriguez-Porcel
Federico Rodriguez-Porcel
SWSandra Wilson
Sandra Wilson
DLDaniel H. Lench
Daniel H. Lench
CCChristine Cooper
Christine Cooper

Verified
Journal Article
Open access
PDF file
JRJon Rodriguez-Antiguedad
Jon Rodriguez-Antiguedad
RRRajasumi Rajalingam
Rajasumi Rajalingam
CKClara Krüger
Clara Krüger
DTDaniel Teixeira-Dos-Santos
Daniel Teixeira-Dos-Santos
CSChristine Sun
Christine Sun
SCSarah Camargos
Sarah Camargos
The Movement Disorders Society recommends the DYT/PARK prefix for genes where dystonia and parkinsonism are prominent in approximately half or more of patients. This systematic review explores the genotype–phenotype correlations of GLB1, SLC6A3, SLC30A10, PLA2G6, and SLC39A14—recently classified as DYT SLC39A14 and historically linked to dystonia-parkinsonism. We searched PubMed and the Human Gene Mutation Database using standardized terms, including English-language, peer-reviewed publications up to February 2024. Following the MDSGene protocol, we extracted individual-level data on patients with biallelic pathogenic variants and at least one movement disorder. Features were marked “missing” if not explicitly reported. Of 1828 articles, 128 were eligible. We identified 386 patients and 262 variants. The median age at onset was 3 years for GLB1, 3 months for SLC6A3, 2.5 years for SLC30A10, 1.5 years for SLC39A14, and 16 years for PLA2G6. Missing data may reflect underreporting of negative findings. Case reports/serie, may bias toward atypical presentations. Our analysis showed dystonia-parkinsonism predominates in SLC6A3 and PLA2G6, while GLB1, SLC30A10, and SLC39A1 show predominantly dystonic phenotypes with a low frequency of parkinsonism. Ataxia was common in GLB1 and PLA2G6. Awareness of these phenotypes is essential for early diagnosis and intervention, particularly in treatable conditions like SLC30A10 or SLC39A14. The predominantly dystonic phenotype in GLB1, SLC30A10, and SLC39A14 suggest that the DYT prefix may be more appropriate, highlighting the need to reconsider their nomenclature, and the importance of systematic reviews.

13 September 2019 in Journal of the American Geriatrics Society
Verified
Journal Article
Open access
PDF file
CCChristine Cooper
Christine Cooper
BMBarbara Marebwa
Barbara Marebwa
LBLeonardo Bonilha
Leonardo Bonilha
See the Reply by Verwer et al .