MovDisordV3, Main, Exploration, bibRecord, 001871

Phenotype of the 202 Adenine Deletion in the parkin Gene: 40 Years of Follow-Up

Identifieur interne : 001871 ( Main/Exploration ); précédent : 001870; suivant : 001872

Phenotype of the 202 Adenine Deletion in the parkin Gene: 40 Years of Follow-Up

Auteurs : Sharon Hassin-Baer [Israël] ; Nobutaka Hattori [Japon] ; Oren S. Cohen [Israël] ; Magdalena Massarwa [Israël] ; Simon D. Israeli-Korn [Israël] ; Rivka Inzelberg [Israël]

Source :

Movement disorders [ 0885-3185 ] ; 2011.

RBID : Pascal:11-0228380

Descripteurs français

Pascal (Inist)
- Délétion, Maladie de Parkinson, Pathologie du système nerveux, Phénotype, Adénine, Parkine.

English descriptors

KwdEn :
- Adenine, Deletion, Nervous system diseases, Parkin, Parkinson disease, Phenotype.

Abstract

Background: We describe the four decades follow-up of 14 parkin patients belonging to two large eight-generation-long in-bred Muslim-Arab kindreds. Results: All patients had a single base-pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the parkin gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17-68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition. Conclusions: The 202A deletion of the parkin gene causes early-onset Parkinson's disease with marked levodopa/STN-DBS-resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident. © 2011 Movement Disorder Society.

Affiliations:

Israël, Japon
Tokyo

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

to stream PascalFrancis, to step Corpus: 000639
to stream PascalFrancis, to step Curation: 002679
to stream PascalFrancis, to step Checkpoint: 000451
to stream Main, to step Merge: 001A41
to stream Main, to step Curation: 001871

Le document en format XML

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<front><div type="abstract" xml:lang="en">Background: We describe the four decades follow-up of 14 parkin patients belonging to two large eight-generation-long in-bred Muslim-Arab kindreds. Results: All patients had a single base-pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the parkin gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17-68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition. Conclusions: The 202A deletion of the parkin gene causes early-onset Parkinson's disease with marked levodopa/STN-DBS-resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident. © 2011 Movement Disorder Society.</div>
</front>
</TEI>
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<name sortKey="Hassin Baer, Sharon" sort="Hassin Baer, Sharon" uniqKey="Hassin Baer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name>
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<name sortKey="Israeli Korn, Simon D" sort="Israeli Korn, Simon D" uniqKey="Israeli Korn S" first="Simon D." last="Israeli-Korn">Simon D. Israeli-Korn</name>
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</country>
<country name="Japon"><noRegion><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Phenotype of the 202 Adenine Deletion in the parkin Gene: 40 Years of Follow-Up

Phenotype of the 202 Adenine Deletion in the parkin Gene: 40 Years of Follow-Up

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