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Arch Neurol. 2006 Sep;63(9):1257-61.

Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.

Author information

1
Institut National de la Santé et de la Recherche Médicale U679, Assistance Publique, Hôpitaux de Paris, Faculté de Médecine, Université Paris 6-Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, 47 Blvd. de l'Hôpital, 75651 Paris CEDEX 13, France.

Abstract

BACKGROUND:

Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at 1p36 have been involved in autosomal recessive early-onset parkinsonism.

OBJECTIVE:

To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene.

DESIGN:

Clinical and genetic study.

SETTING:

Collaborative study. Patients Eight patients from Sudan with particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive dystonia-like to typical early-onset parkinsonism.

MAIN OUTCOME MEASURES:

The PINK1 genotype and Parkinson disease status of all available family members.

RESULTS:

The disease was caused by a novel mutation, p.A217D, located in the highly conserved adenosine triphosphate orientation site of the PINK1 kinase domain.

CONCLUSION:

This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.

PMID:
16966503
DOI:
10.1001/archneur.63.9.1257
[Indexed for MEDLINE]

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