Tremor Dominant Parkinsonism : Clinical Description and LRRK2 Mutation Screening
Identifieur interne : 003640 ( Main/Merge ); précédent : 003639; suivant : 003641Tremor Dominant Parkinsonism : Clinical Description and LRRK2 Mutation Screening
Auteurs : Jordi Clarimpn [Espagne] ; Javier Pagonabarraga [Espagne] ; Coro Paisan-Ruiz [États-Unis] ; Antonia Campolongo [Espagne] ; Berta Pascual-Sedano [Espagne] ; José-Félix Marti-Masso [Espagne] ; Andrew B. Singleton [États-Unis] ; Jaime Kulisevsky [Espagne]Source :
- Movement disorders [ 0885-3185 ] ; 2008.
Descripteurs français
- Pascal (Inist)
English descriptors
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.
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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.</div>
</front>
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<name sortKey="Marti Masso, Jose Felix" sort="Marti Masso, Jose Felix" uniqKey="Marti Masso J" first="José-Félix" last="Marti-Masso">José-Félix Marti-Masso</name>
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<name sortKey="Pascual Sedano, Berta" sort="Pascual Sedano, Berta" uniqKey="Pascual Sedano B" first="Berta" last="Pascual-Sedano">Berta Pascual-Sedano</name>
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