Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening
Identifieur interne : 000C34 ( Main/Exploration ); précédent : 000C33; suivant : 000C35Tremor 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.
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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
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DOI: 10.1002/mds.21771
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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></front></TEI><affiliations><list><country><li>Espagne</li><li>États-Unis</li></country><region><li>Catalogne</li><li>Maryland</li></region><settlement><li>Barcelone</li></settlement></list><tree><country name="Espagne"><region name="Catalogne"><name sortKey="Clarim N, Jordi" sort="Clarim N, Jordi" uniqKey="Clarim N J" first="Jordi" last="Clarim N">Jordi Clarim N</name></region><name sortKey="Campolongo, Antonia" sort="Campolongo, Antonia" uniqKey="Campolongo A" first="Antonia" last="Campolongo">Antonia Campolongo</name><name sortKey="Kulisevsky, Jaime" sort="Kulisevsky, Jaime" uniqKey="Kulisevsky J" first="Jaime" last="Kulisevsky">Jaime Kulisevsky</name><name sortKey="Marti Ass, Jose Elix" sort="Marti Ass, Jose Elix" uniqKey="Marti Ass J" first="José-Félix" last="Martí-Mass">José-Félix Martí-Mass</name><name sortKey="Pagonabarraga, Javier" sort="Pagonabarraga, Javier" uniqKey="Pagonabarraga J" first="Javier" last="Pagonabarraga">Javier Pagonabarraga</name><name sortKey="Pascual Edano, Berta" sort="Pascual Edano, Berta" uniqKey="Pascual Edano B" first="Berta" last="Pascual-Sedano">Berta Pascual-Sedano</name></country><country name="États-Unis"><region name="Maryland"><name sortKey="Paisan Uiz, Coro" sort="Paisan Uiz, Coro" uniqKey="Paisan Uiz C" first="Coro" last="Paisán-Ruíz">Coro Paisán-Ruíz</name></region><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. 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