Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening
Identifieur interne : 002555 ( Main/Exploration ); précédent : 002554; suivant : 002556Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening
Auteurs : Jordi Clarim N [Espagne] ; Javier Pagonabarraga [Espagne] ; Coro Paisán-Ruíz [États-Unis] ; Antonia Campolongo [Espagne] ; Berta Pascual-Sedano [Espagne] ; José-Félix Martí-Mass [Espagne] ; Andrew B. Singleton [États-Unis] ; Jaime Kulisevsky [Espagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-03-15.
English descriptors
- KwdEn :
- Aged, Aged, 80 and over, Corpus Striatum (metabolism), Corpus Striatum (physiopathology), DNA Mutational Analysis, Female, Genetic Testing, Humans, LRRK2, Male, Middle Aged, Nortropanes (diagnostic use), Nortropanes (pharmacokinetics), Parkinson, Parkinsonian Disorders (epidemiology), Parkinsonian Disorders (genetics), Parkinsonian Disorders (physiopathology), Point Mutation (genetics), Posture, Prognosis, Prospective Studies, Protein-Serine-Threonine Kinases (genetics), Radiopharmaceuticals (diagnostic use), Radiopharmaceuticals (pharmacokinetics), Rest, Retrospective Studies, Severity of Illness Index, Tomography, Emission-Computed, Single-Photon, Tremor (diagnosis), Tremor (epidemiology), Tremor (physiopathology), tremor, tremor dominant parkinsonism.
- MESH :
- chemical , diagnostic use : Nortropanes, Radiopharmaceuticals.
- diagnosis : Tremor.
- epidemiology : Parkinsonian Disorders, Tremor.
- genetics : Parkinsonian Disorders, Point Mutation, Protein-Serine-Threonine Kinases.
- metabolism : Corpus Striatum.
- chemical , pharmacokinetics : Nortropanes, Radiopharmaceuticals.
- physiopathology : Corpus Striatum, Parkinsonian Disorders, Tremor.
- Aged, Aged, 80 and over, DNA Mutational Analysis, Female, Genetic Testing, Humans, Male, Middle Aged, Posture, Prognosis, Prospective Studies, Rest, Retrospective Studies, Severity of Illness Index, Tomography, Emission-Computed, Single-Photon.
Abstract
Tremor dominant parkinsonism (TDP) is characterized by initial prominent resting and action tremor, mild parkinsonism, unpredictable response to medication, and a better prognosis than idiopathic Parkinson's disease (PD). We report on clinical features and longitudinal course of 26 patients suffering from TDP. Mean disease duration was 6.5 ± 3 years, 61.5% of patients had a positive family history of tremor, 73% did not need drug treatment, performance of 123I‐Ioflupane SPECT showed reduced striatal tracer uptake in 65.4% of patients, and odor identification testing was pathologic in all the patients tested (n = 22). Co‐occurrence of action and resting tremor were the most annoying and disabling symptoms in all the patients, whereas rigidity and/or bradykinesia were clinically irrelevant in most of them. We also sequenced the full coding region of the Leucine‐rich repeat kinase 2 gene (LRRK2) in all patients. We found a novel Val2390Met mutation that was not found in 864 chromosomes. Our results suggest a broader clinical heterogeneity related to LRRK2 mutations and points towards TDP as a subtype within the spectrum of PD, in which disabling tremor but otherwise mild parkinsonian signs and a better prognosis are the main characteristics. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21771
Affiliations:
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Le document en format XML
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<term>DNA Mutational Analysis</term>
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<term>Genetic Testing</term>
<term>Humans</term>
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<front><div type="abstract" xml:lang="en">Tremor dominant parkinsonism (TDP) is characterized by initial prominent resting and action tremor, mild parkinsonism, unpredictable response to medication, and a better prognosis than idiopathic Parkinson's disease (PD). We report on clinical features and longitudinal course of 26 patients suffering from TDP. Mean disease duration was 6.5 ± 3 years, 61.5% of patients had a positive family history of tremor, 73% did not need drug treatment, performance of 123I‐Ioflupane SPECT showed reduced striatal tracer uptake in 65.4% of patients, and odor identification testing was pathologic in all the patients tested (n = 22). Co‐occurrence of action and resting tremor were the most annoying and disabling symptoms in all the patients, whereas rigidity and/or bradykinesia were clinically irrelevant in most of them. We also sequenced the full coding region of the Leucine‐rich repeat kinase 2 gene (LRRK2) in all patients. We found a novel Val2390Met mutation that was not found in 864 chromosomes. Our results suggest a broader clinical heterogeneity related to LRRK2 mutations and points towards TDP as a subtype within the spectrum of PD, in which disabling tremor but otherwise mild parkinsonian signs and a better prognosis are the main characteristics. © 2007 Movement Disorder Society</div>
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