Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic
Luca Marsili, Kevin R. Duque, Jesus Abanto, Nathaly O. Chinchihualpa Paredes, Andrew P. Duker, Kathleen Collins, Marcelo Miranda, M. Leonor Bustamante, Michael Pauciulo, Michael Dixon, Hassan Chaib, Josefina Perez-Maturo, Emily J. Hill, Alberto J. Espay, Marcelo A. Kauffman · 2024
Read Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic by Luca Marsili, Kevin R. Duque, Jesus Abanto, Nathaly O. Chinchihualpa Paredes, Andrew P. Duker, Kathleen Collins, Marcelo Miranda, M. Leonor Bustamante, Michael Pauciulo, Michael Dixon, Hassan Chaib, Josefina Perez-Maturo, Emily J. Hill, Alberto J. Espay, Marcelo A. Kauffman (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11727247.txt.
Description
Luca Marsili and co-authors describe seven years of experience running a genetics clinic for rare movement disorders, in a 2024 paper. Many such disorders are inherited, and modern sequencing can find the cause, but clinics must choose among several test types wisely. Their program, launched in 2017, offered whole-exome sequencing to patients whose disorders looked genetic in origin.
Of eighty-two unrelated patients, twenty-seven percent received a firm genetic diagnosis. Those with a found cause had fallen ill significantly younger. Unsteady gait and parkinsonism were the most common presentations, and a few symptom groups accounted for most diagnoses. The authors lay out a full protocol. It includes a decision tree for escalating to whole-genome or long-read sequencing. It also covers how results are returned and re-analysis of unsolved cases. All of it aims at raising the diagnostic yield for rare brain disorders.
Catalog record
| CREATOR | Luca Marsili, Kevin R. Duque, Jesus Abanto, Nathaly O. Chinchihualpa Paredes, Andrew P. Duker, Kathleen Collins, Marcelo Miranda, M. Leonor Bustamante, Michael Pauciulo, Michael Dixon, Hassan Chaib, Josefina Perez-Maturo, Emily J. Hill, Alberto J. Espay, Marcelo A. Kauffman |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 35 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |