The purpose of this research project is to assess whether affected PKD patients have brain abnormalities compared to healthy normal controls. Hypothesis: Paroxysmal kinesigenic dyskinesia affected individuals exhibit abnormal spontaneous activity of…
ID
Source
Brief title
Condition
- Neurological disorders NEC
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The study purpose is to objectify activation patterns in basal ganglia and
cortical sensorimotor areas in PKD affected individuals and in healthy normal
controls.
Outcome measures:
- Structural imaging: grey and white matter volumes (mm³);
- Diffusion tensor imaging: mean diffusity (MD) and fractional anisotropy (FA);
- Functional imaging: number of significantly (Pcorrected <0.05) activated
voxels;
- Perfusion imaging: cerebral blood flow (ml/s/100 mm³).
Secondary outcome
nvt
Background summary
Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurologic disorder
characterized by recurring brief attacks of involuntary movements. PKD is also
known as paroxysmal kinesigenic choreoathethosis (PKC, Mount and Reback 1940)
[1]. Paroxysmal kinesigenic attacks are initiated by sudden onset moves or
startle and can occur up to hundred times a day. The precise phenotype remains
unclear and no causative gene is yet found.
PKD belongs to a group of movement disorders characterised by intermittent,
painless attacks of involuntary movements characterised by dystonia, chorea,
athetosis and/or ballism. Several classifications have been suggested based on
their mode of triggering, duration, frequency and associated syndromes. Kertesz
(1967) differentiated a kinesigenic and a non-kinesigenic form [2]. Later,
Lance (1977) classified three forms of paroxysmal dyskinesia, according to the
duration of the attacks and Demirkiran and Jankovic (1995) described four types
of paroxysmal dyskinesia based on their triggering events [3-4] (table 1). The
prevalence of PKD is unknown, but is estimated to be present in 1/150.000
people. PKD is the most common type of the paroxysmal dyskinesias and possible
overlap between categories has been described [5].
PKD can be sporadic, familial or secondary. Central nerve abnormalities,
cerebral vascular insufficiency, trauma and metabolic disorders can cause
symptomatic paroxysmal dyskinesia [6]. In approximately 50 percent of the cases
patients have a family history [7]. The inheritance pattern is autosomal
dominant and an incomplete penetrance is described (80-90%).
Study objective
The purpose of this research project is to assess whether affected PKD patients
have brain abnormalities compared to healthy normal controls.
Hypothesis:
Paroxysmal kinesigenic dyskinesia affected individuals exhibit abnormal
spontaneous activity of the basal ganglia, thalamus and the sensorimotor cortex
Such abnormal brain activity may manifest itself as increased grey matter
volume, increased white matter integrity connectivity, increased resting state
activity and hyperperfusion of affected structures.
Study design
Case-control study.
Study burden and risks
With the screening for contraindications, no objective risks are inherent to
the use of the MRI.
's Gravendijkwal 230
3015 CE
NL
's Gravendijkwal 230
3015 CE
NL
Listed location countries
Age
Inclusion criteria
- Diagnosis of PKD by a neurologist and clinical geneticist according the clinical criteria of Bruno et al (2004);
- Age: 16 years and older.
- Informed consent
- Able to lay still for a prolonged time (about an hour);
Exclusion criteria
- Secondarily caused PKD symptoms;
- Contra-indications for MRI scanning;
- Neurocognitive disorders related to brain abnormalities or psychiatric disease.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL36982.078.11 |