Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up

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...

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Published in:Movement disorders 2011-03, Vol.26 (4), p.719-722
Main Authors: Hassin-Baer, Sharon, Hattori, Nobutaka, Cohen, Oren S., Massarwa, Magdalena, Israeli-Korn, Simon D., Inzelberg, Rivka
Format: Article
Language:English
Subjects:
Adenine
Adult
Age of Onset
Aged
Disability Evaluation
Disease Progression
Family Health
Female
follow-up
genetics
Genotype
Humans
Longitudinal Studies
Male
Middle Aged
Movement disorders
PARK2
Parkin
Parkinson Disease - genetics
Parkinson Disease - physiopathology
Parkinson's disease
Phenotype
Sequence Deletion - genetics
Severity of Illness Index
Ubiquitin-Protein Ligases - genetics
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Summary: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
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.23456