In recent years, we have identified a Dutch family and performed a large number of studies which have helped us gain insight into the disorder. (MEC protocols 02/223 and 03/140, Dissertation Van Rootselaar, 2006). We want to call on family members…
ID
Source
Brief title
Condition
- Movement disorders (incl parkinsonism)
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Making use of clinical, clinical neurophysiological and neuropsychological
examinations, we expect to observe an increase of symptoms and signs of
disease, which could be influenced by the disease itself, by prescribed
medication, or by comorbidity.
Secondary outcome
Not applicable.
Background summary
*Familiar cortical myoclonic tremor with epilepsy* (FCMTE) is an autosomal
dominant inherited disorder with epileptic seizures in combination with muscle
jerks (myoclonus) of the limbs.
Long term follow-up of FCMTE patients is missing in the literature; as a result
of which disease progression in individual FCMTE patients is not well known.
Additionally, follow-up and expansion of the pedigree, allowing proper
phenotyping, is essential for genetic research.
Study objective
In recent years, we have identified a Dutch family and performed a large number
of studies which have helped us gain insight into the disorder. (MEC protocols
02/223 and 03/140, Dissertation Van Rootselaar, 2006). We want to call on
family members who have in the past indicated a willingness to be approached
for future research, and include them in a follow-up study. In addition to
that, we want to try and identify new family members. The goal of this protocol
is to shed a light on follow-up studies in this pedigree.
Study design
The follow-up portion of this study will be executed as a prospective cohort
study. Comparison between clinical neurophysiological and NPO data with healthy
subjects will be performed using the case-control design.
Study burden and risks
Participants will undergo one site visit, during which a neurological
examination will be performed, in addition to standardized clinical
evaluations with the aid of clinical scales and videos. During the same visit,
participants will undergo neurophysiological examination and neuropsychological
assessment.
The proposed investigation bears virtually no risks and is usually well
tolerated. Patients will benefit from the insight gained into progression of
the disease, mainly because they can subsequently be better informed.
Furthermore, insight into the effects of medication and comorbidity could lead
to better management of FCMTE. Healthy controls will have no special benefits.
Meibergdreef 9
Amsterdam 1105AZ
NL
Meibergdreef 9
Amsterdam 1105AZ
NL
Listed location countries
Age
Inclusion criteria
Patient inclusion criteria: Definitely or possible affected and age above 18. Healthy subjects undergoing neurophysiological examination: Matched for age and gender. Healthy subjects undergoing neuropsychological assessment: Matched for age and gender and for socio-economic status.
Exclusion criteria
Exlusioncriteria patients: None. Exclusionciteria healthy subjects: no known neurological disorders and medication usage which can affect task performance.
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 | NL44044.018.13 |