Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow‐up
Identifieur interne : 001467 ( Main/Exploration ); précédent : 001466; suivant : 001468Phenotype 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 ] ; 2011-03.
English descriptors
- KwdEn :
- Adenine, Adult, Age of Onset, Aged, Disability Evaluation, Disease Progression, Family Health, Female, Genotype, Humans, Longitudinal Studies, Male, Middle Aged, PARK2, Parkin, Parkinson Disease (genetics), Parkinson Disease (physiopathology), Parkinson's disease, Phenotype, Sequence Deletion (genetics), Severity of Illness Index, Ubiquitin-Protein Ligases (genetics), follow‐up, genetics.
- MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- chemical : Adenine.
- genetics : Parkinson Disease, Sequence Deletion.
- physiopathology : Parkinson Disease.
- Adult, Age of Onset, Aged, Disability Evaluation, Disease Progression, Family Health, Female, Genotype, Humans, Longitudinal Studies, Male, Middle Aged, Phenotype, Severity of Illness Index.
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. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.23456
Affiliations:
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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. © 2010 Movement Disorder Society</div>
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