Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism

Christan F. Rohé, Pasquale Montagna, Guido Breedveld, Pietro Cortelli, Ben A. Oostra, Vincenzo Bonifati

Research output: Contribution to journalArticle

Abstract

Two homozygous mutations in the PINK1 gene, encoding a mitochondrial putative protein kinase, recently have been identified in families with PARK6-linked, autosomal recessive early-onset parkinsonism (AREP). Here, we describe a novel homozygous mutation (1573_1574 insTTAG) identified in an AREP patient, which causes a frameshift and truncation at the C-terminus of the PINK1 protein, outside the kinase catalytic domain. The clinical phenotype includes early-onset (28 years) parkinsonism, foot dystonia at onset, good levodopa response, slow progression, early levodopa-induced dyskinesias, and sleep benefit, thereby resembling closely parkin-related disease. These findings confirm that recessive mutations in PINK1 cause early-onset parkinsonism. and expand the associated clinical phenotype.

Original languageEnglish
Pages (from-to)427-431
Number of pages5
JournalAnnals of Neurology
Volume56
Issue number3
DOIs
Publication statusPublished - Sep 2004

ASJC Scopus subject areas

  • Neuroscience(all)

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    Rohé, C. F., Montagna, P., Breedveld, G., Cortelli, P., Oostra, B. A., & Bonifati, V. (2004). Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. Annals of Neurology, 56(3), 427-431. https://doi.org/10.1002/ana.20247