Study Results
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Basic Information
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UNKNOWN
80 participants
OBSERVATIONAL
2018-07-01
2021-07-01
Brief Summary
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Detailed Description
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* Dopa-responsive dystonia (DRD) can present similar to young-onset PD, but carries a completely different prognosis, necessitating different treatment requirements due to fundamentally different underlying physiology.
* Sporadic and Inherited dystonias (i.e. due to TorsinA (DYT1) and other gene mutations) often present with dystonia, particularly affecting the leg, which is clinically indistinguishable from young-onset PD.
* Young-onset PD, i.e. PD presenting with motor symptoms before 45 years of age, caused by a familiar gene mutation (PARKIN, Pink, DJ-1, PLA2G6, FBX07, ATP13A2, VPS13C, RAB39B, Lubag), often presents with predominant dystonia, particularly with leg-onset.
* NBIAs present with dystonia/parkinsonism: while basal ganglia iron accumulation is a known hallmark feature of the condition \[3\], the characteristics of neuromelanin regulation are unknown.
* Mitochondrial disease presenting with dystonia / parkinsonism (such as for example Leigh syndrome due to mutations in the Surf-1 gene or mutations m.3243A\>G or POLG) \[4\]
* Respective age- and sex-matched healthy controls This study is designed to produce pilot data on these disease entities. By potentially accelerating the diagnostic process and identification of disease entities, neurologists might be able to deliver more selective and dedicated treatment.
Furthermore, combining Neuromelanin- and iron-specific imaging will offer the possibility to study the condition- specific dynamics of iron homeostasis in these rare conditions.
Conditions
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Study Design
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CASE_CONTROL
CROSS_SECTIONAL
Study Groups
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Sporadic Dystonia
3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment
3Tesla MRI
1. A previously validated multi-parameter mapping protocol sensitive to neuromelanin and iron content
2. Iron mapping and micro-bleed detection: QSM (quantitative susceptibility mapping), a fully flow-compensated, susceptibility-weighted gradient-echo sequence (5 minutes).
3. 1-mm isotropic anatomical MPRAGE (magnetization-prepared rapid gradient-echo)
4. conventional FLAIR sequence
Burke-Fahn-Marsden Dystonia Rating scale
internationally standardized examination/quantification of dystonia
MDS-United Parkinsons Disease Rating Scale, Part III
most recent, internationally standardized examination/quantification of bradykinesia / rigidity according to the Movement Disorder Society
Beck Depression Inventory
internationally standardized examination to quantify traits of anxiety and depression
MoCA: Montreal Cognitive Assessment:
internationally standardized examination to quantify cognition, frequently used in studies of dystonia and parkinsonism
Familial Dystonia
3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment
3Tesla MRI
1. A previously validated multi-parameter mapping protocol sensitive to neuromelanin and iron content
2. Iron mapping and micro-bleed detection: QSM (quantitative susceptibility mapping), a fully flow-compensated, susceptibility-weighted gradient-echo sequence (5 minutes).
3. 1-mm isotropic anatomical MPRAGE (magnetization-prepared rapid gradient-echo)
4. conventional FLAIR sequence
Burke-Fahn-Marsden Dystonia Rating scale
internationally standardized examination/quantification of dystonia
MDS-United Parkinsons Disease Rating Scale, Part III
most recent, internationally standardized examination/quantification of bradykinesia / rigidity according to the Movement Disorder Society
Beck Depression Inventory
internationally standardized examination to quantify traits of anxiety and depression
MoCA: Montreal Cognitive Assessment:
internationally standardized examination to quantify cognition, frequently used in studies of dystonia and parkinsonism
Parkinson´s disease, juvenile
3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment
3Tesla MRI
1. A previously validated multi-parameter mapping protocol sensitive to neuromelanin and iron content
2. Iron mapping and micro-bleed detection: QSM (quantitative susceptibility mapping), a fully flow-compensated, susceptibility-weighted gradient-echo sequence (5 minutes).
3. 1-mm isotropic anatomical MPRAGE (magnetization-prepared rapid gradient-echo)
4. conventional FLAIR sequence
Burke-Fahn-Marsden Dystonia Rating scale
internationally standardized examination/quantification of dystonia
MDS-United Parkinsons Disease Rating Scale, Part III
most recent, internationally standardized examination/quantification of bradykinesia / rigidity according to the Movement Disorder Society
Beck Depression Inventory
internationally standardized examination to quantify traits of anxiety and depression
MoCA: Montreal Cognitive Assessment:
internationally standardized examination to quantify cognition, frequently used in studies of dystonia and parkinsonism
Neurodegeneration with brain iron acc.
3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment
3Tesla MRI
1. A previously validated multi-parameter mapping protocol sensitive to neuromelanin and iron content
2. Iron mapping and micro-bleed detection: QSM (quantitative susceptibility mapping), a fully flow-compensated, susceptibility-weighted gradient-echo sequence (5 minutes).
3. 1-mm isotropic anatomical MPRAGE (magnetization-prepared rapid gradient-echo)
4. conventional FLAIR sequence
Burke-Fahn-Marsden Dystonia Rating scale
internationally standardized examination/quantification of dystonia
MDS-United Parkinsons Disease Rating Scale, Part III
most recent, internationally standardized examination/quantification of bradykinesia / rigidity according to the Movement Disorder Society
Beck Depression Inventory
internationally standardized examination to quantify traits of anxiety and depression
MoCA: Montreal Cognitive Assessment:
internationally standardized examination to quantify cognition, frequently used in studies of dystonia and parkinsonism
mitochondrial disease
3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment
3Tesla MRI
1. A previously validated multi-parameter mapping protocol sensitive to neuromelanin and iron content
2. Iron mapping and micro-bleed detection: QSM (quantitative susceptibility mapping), a fully flow-compensated, susceptibility-weighted gradient-echo sequence (5 minutes).
3. 1-mm isotropic anatomical MPRAGE (magnetization-prepared rapid gradient-echo)
4. conventional FLAIR sequence
Burke-Fahn-Marsden Dystonia Rating scale
internationally standardized examination/quantification of dystonia
MDS-United Parkinsons Disease Rating Scale, Part III
most recent, internationally standardized examination/quantification of bradykinesia / rigidity according to the Movement Disorder Society
Beck Depression Inventory
internationally standardized examination to quantify traits of anxiety and depression
MoCA: Montreal Cognitive Assessment:
internationally standardized examination to quantify cognition, frequently used in studies of dystonia and parkinsonism
Healthy Controls
3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment
3Tesla MRI
1. A previously validated multi-parameter mapping protocol sensitive to neuromelanin and iron content
2. Iron mapping and micro-bleed detection: QSM (quantitative susceptibility mapping), a fully flow-compensated, susceptibility-weighted gradient-echo sequence (5 minutes).
3. 1-mm isotropic anatomical MPRAGE (magnetization-prepared rapid gradient-echo)
4. conventional FLAIR sequence
Burke-Fahn-Marsden Dystonia Rating scale
internationally standardized examination/quantification of dystonia
MDS-United Parkinsons Disease Rating Scale, Part III
most recent, internationally standardized examination/quantification of bradykinesia / rigidity according to the Movement Disorder Society
Beck Depression Inventory
internationally standardized examination to quantify traits of anxiety and depression
MoCA: Montreal Cognitive Assessment:
internationally standardized examination to quantify cognition, frequently used in studies of dystonia and parkinsonism
Interventions
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3Tesla MRI
1. A previously validated multi-parameter mapping protocol sensitive to neuromelanin and iron content
2. Iron mapping and micro-bleed detection: QSM (quantitative susceptibility mapping), a fully flow-compensated, susceptibility-weighted gradient-echo sequence (5 minutes).
3. 1-mm isotropic anatomical MPRAGE (magnetization-prepared rapid gradient-echo)
4. conventional FLAIR sequence
Burke-Fahn-Marsden Dystonia Rating scale
internationally standardized examination/quantification of dystonia
MDS-United Parkinsons Disease Rating Scale, Part III
most recent, internationally standardized examination/quantification of bradykinesia / rigidity according to the Movement Disorder Society
Beck Depression Inventory
internationally standardized examination to quantify traits of anxiety and depression
MoCA: Montreal Cognitive Assessment:
internationally standardized examination to quantify cognition, frequently used in studies of dystonia and parkinsonism
Eligibility Criteria
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Inclusion Criteria
* dopa-responsive dystonia
* sporadic or inherited/genetic dystonia
* young-onset Parkinson's disease
* NBIA
* Mitochondrial disease
* OR healthy controls
* 18 to 60 years of age
* able to give informed consent
Exclusion Criteria
* Participated in a clinical drug trial up to 28 days before inclusion into the present study
* Contra-indications to 3T MRI on MRI safety grounds, such as presence of contra-indicated medical implants, as according to the established routine operating procedures for clinical MRI in the Lysholm Department of Neuroradiology at the National Hospital for Neurology and Neurosurgery.
18 Years
60 Years
ALL
Yes
Sponsors
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University College, London
OTHER
Responsible Party
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Principal Investigators
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Bhatia P Kailash, MD, DM, FRCP
Role: PRINCIPAL_INVESTIGATOR
UCL, Institute of Neurology, Sobell Department
Central Contacts
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Other Identifiers
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IRAS ID 243171
Identifier Type: OTHER
Identifier Source: secondary_id
18/0075
Identifier Type: -
Identifier Source: org_study_id
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