For instance, PRRT2 was identified by Chinese neurologists as the causative gene of paroxysmal kinesigenic dyskinesias (PKD) as well as other paroxysmal dyskinesias.,, While genetic etiology may not show great differences in movement disorders of Chinese from other ethnic groups, abundance of patient resources would facilitate the identification of novel pathogenic genes.
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.
Paroxysmal Retroviruses The expression of PRRT2
kinesigenic was decreased in PKD- dyskinesia iPSCs.
In 2011, genome-wide linkage analyses confirmed proline-rich transmembrane protein 2 ( PRRT2 ) as the causative gene of PKD due to its overlapping location to EKD1/EKD2 region.[sup],,,,,,,, During the past 6 years, a deluge of scientific articles have been published concerning the genetic and clinical features of PKD, and papers continue to appear reporting the progress in neurobiology and neurophysiology.[sup],, Appropriate anticonvulsant treatment, such as carbamazepine, has led to many of these patients controlling attacks successfully.[sup], However, in some patients, the motor episodes could be elicited not only by voluntary movements but also by emotional stress.
A novel topology of proline-rich transmembrane protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE.
PRRT2 is a key component of the ca(2+)-dependent neurotransmitter release machinery.
In another paper, Wang et al .[sup] tried to explore the genetic factors in PRRT2 -negative PKD patients with candidate gene strategy.
Mutation Analysis of MR-1 , SLC2A1 , and CLCN1 in 28 PRRT2 -negative Paroxysmal Kinesigenic Dyskinesia Patients.
Background: Paroxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskinesias and is caused by mutations in PRRT2 gene.
Sporadic PKD cases are also reported, which are considered to be attributed to incomplete penetrance or de novo mutations.[sup] PRRT2 encoding proline-rich transmembrane protein 2 has been identified as a causative gene for PKD by several independent groups.[sup],, A hotspot mutation c.649dupC has been found in PKD cases from different ethnic origins.[sup], However, PRRT2 mutations do not account for all PKD cases, especially for those sporadic ones.
Of note, PRRT2 mutations were not only implicated in PKD but also identified in other paroxysmal disorders, such as benign familial infantile seizures,[sup], paroxysmal nonkinesigenic dyskinesia (PNKD),[sup], and paroxysmal exertion-induced dyskinesia (PED).[sup], This demonstrated a phenotypic overlap between PKD and other paroxysmal neurological disorders.