Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases.
Mol Neurobiol
; 56(6): 4317-4321, 2019 Jun.
Article
in En
| MEDLINE
| ID: mdl-30315477
ABSTRACT
Essential Tremor is a prevalent neurological disorder of unknown etiology. Studies suggest that genetic factors contribute to this pathology. To date, no causative mutations in a gene have been reproducibly reported. All three structures of the olivocerebellar motor circuitry have been linked to Essential Tremor. We postulated that genes enriched for their expression in the olivocerebellar circuitry would be more susceptible to harbor mutations in Essential Tremor patients. A list of 11 candidate genes, enriched for their expression in the olivocerebellar circuitry, was assessed for their variation spectrum and frequency in a cohort of Canadian Essential Tremor cases. Our results from this list of 11 candidate genes do not support an association for Essential Tremor in our cohort of Canadian cases. The heterogenic nature of ET and modest size of the cohort used in this study are two confounding factors that could explain these results.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Phylogeny
/
Cerebellum
/
Conserved Sequence
/
Mutation, Missense
/
Essential Tremor
/
Motor Cortex
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Aged
/
Humans
/
Middle aged
Country/Region as subject:
America do norte
Language:
En
Journal:
Mol Neurobiol
Journal subject:
BIOLOGIA MOLECULAR
/
NEUROLOGIA
Year:
2019
Type:
Article
Affiliation country:
Canada