A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism.

Abstract:

:We have investigated the presence of mutations in the parkin gene in patients with early-onset parkinsonism. Direct sequencing of the polymerase chain reaction (PCR) products showed a homozygous G deletion in the exon 7 (c.871delG) in one patient. This was a 38-year-old Moroccan woman with a history of parkinsonism of 18 years of duration. The disease appeared as an apparently sporadic case and was characterized by dystonia of the legs at onset and a rapid progression to severe generalized parkinsonism but with an excellent maintained response to dopamine agonists treatment. The deletion was a frameshift mutation resulting in a stop codon at position 297 which causes truncation of the parkin protein. Mutations in the parkin gene can be encountered in patients with an apparently sporadic early-onset parkinsonism, rapidly progressive course and marked and maintained response to dopamine agonists.

journal_name

Neurosci Lett

journal_title

Neuroscience letters

authors

Muñoz E,Pastor P,Martí MJ,Oliva R,Tolosa E

doi

10.1016/s0304-3940(00)01248-9

keywords:

subject

Has Abstract

pub_date

2000-07-28 00:00:00

pages

66-8

issue

1

eissn

0304-3940

issn

1872-7972

pii

S0304-3940(00)01248-9

journal_volume

289

pub_type

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