Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

@article{Kitada1998MutationsIT,
  title={Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism},
  author={Tohru Kitada and Shuichi Asakawa and Nobutaka Hattori and Hiroto Matsumine and Yasuhiro Yamamura and Shinsei Minoshima and Masayuki Yokochi and Yoshikuni Mizuno and Nobuyoshi Shimizu},
  journal={Nature},
  year={1998},
  volume={392},
  pages={605-608}
}
Parkinson's disease is a common neurodegenerative disease with complex clinical features. Autosomal recessive juvenile parkinsonism (AR-JP), maps to the long arm of chromosome 6 (6q25.2-q27) and is linked strongly to the markers D6S305 and D6S253 (ref. 4); the former is deleted in one Japanese AR-JP patient. By positional cloning within this microdeletion, we have now isolated a complementary DNA clone of 2,960 base pairs with a 1,395-base-pair open reading frame, encoding a protein of 465… 
Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease
  • J. Clarimón, Janel O. Johnson, A. Singleton
  • Biology
    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
  • 2005
TLDR
Data is presented demonstrating that disease in these families is not caused by a single founder mutation, and that there is no common fragile site between these mutational events.
Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism
TLDR
This first description of Russian patients with AR‐JP and molecularly proven parkin mutations confirms the widespread occurrence of this polymorphic hereditary extrapyramidal disorder.
Autosomal Recessive Juvenile Parkinsonism (AR-JP): Genetic Diagnosis.
TLDR
The presence of homozygous exonic deletions strengthens the notion that nigral neurodegeneration in AR-JP is caused by loss of function of the parkin protein.
Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region.
TLDR
A detailed genetic map of the linked region and the position of the manganese superoxide dismutase gene (SOD2) is constructed and the apparent homozygosity for null alleles at D6S955 in one family suggested a deletion and finer localization of the JP locus.
Parkin and Parkinson's disease
TLDR
This review article evaluates the developments in this area published since 1 February 2000 and concludes that many studies still need to be performed to elucidate the molecular mechanism of the selective nigral neurodegeneration in this form of familial Parkinson's disease, it will not be too long before this is accomplished.
Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism.
TLDR
Results suggest that the parkin protein possesses an important function not only in the substantia nigra but also in extranigral neurons of the CNS and that the phenotype of multiple system dysfunction can also be a complication in patients with AR-JP due to variations in sites of or changes in functions by parkin mutation.
Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence for variable homozygous deletions in the Parkin gene in affected individuals
TLDR
The findings indicate that loss of function of the Parkin protein results in the clinical phenotype of AR‐JP and that subregions between introns 2 and 5 of the parkin gene are mutational hot spots.
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