MovDisordV3, Main, Exploration, bibRecord, 002A47

Tremor Dominant Parkinsonism : Clinical Description and LRRK2 Mutation Screening

Identifieur interne : 002A47 ( Main/Exploration ); précédent : 002A46; suivant : 002A48

Tremor 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.

RBID : Pascal:08-0199280

Descripteurs français

Pascal (Inist)
- Tremblement, Parkinsonisme, Pathologie du système nerveux, Mutation, Dépistage.

English descriptors

KwdEn :
- Medical screening, Mutation, Nervous system diseases, Parkinsonism, Tremor.

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.

Affiliations:

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Le document en format XML

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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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	Movement Disorders (revue)
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Movement Disorders (revue)

Tremor Dominant Parkinsonism : Clinical Description and LRRK2 Mutation Screening

Tremor Dominant Parkinsonism : Clinical Description and LRRK2 Mutation Screening

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri