Related Experiment Video

Updated: Aug 12, 2025

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
10:41

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia

Published on: September 12, 2020

7.4K

TMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases

Othman Mounir Alaoui1, Pierre-François Charbonneau2, Pauline Prin3

  • 1Service de Neurologie, Avicenne Hospital, APHP, Hôpitaux Universitaires de Paris-Seine Saint Denis (HUPSSD), Sorbonne Paris Nord, réseau NS-PARK/FCRIN, Bobigny, France.

Parkinsonism & Related Disorders
|February 1, 2023
PubMed

Insights

Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder linked to TMEM151A gene variants. This study identifies two novel mutations in the TMEM151A gene in three patients with PKD, advancing our understanding of the genetic basis of this condition.

Area of Science:

  • Genetics
  • Neurology
  • Movement Disorders

Background:

  • Paroxysmal kinesigenic dyskinesia (PKD) is characterized by involuntary movements triggered by sudden actions.
  • Recent research has implicated variants in the TMEM151A gene in the etiology of PKD.
  • Understanding the genetic underpinnings of PKD is crucial for diagnosis and potential therapeutic strategies.
Keywords:
DystoniaPRRT2Paroxysmal kinesigenic dyskinesiaTMEM151A

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.9K
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.8K

Related Concept Videos

Parkinson's Disease: Treatment01:24

Parkinson's Disease: Treatment

Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
330