New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism

L. Terreni, E. Calabrese, A. M. Calella, Gianluigi Forloni, C. Mariani

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Abstract

Objective: To investigate the association between parkin gene mutations and parkinsonism in an Italian family in which three of 12 siblings born to first-degree consanguineous parents had early-onset parkinsonism. Background: Several deleting or truncating mutations as well as missense mutations of the parkin gene were associated with early-onset parkinsonism. Method: Three brothers were examined clinically at several stages of the disease. Single-strand conformational polymorphism analysis was done on the parkin gene of 32 members of the family. Samples showing mobility shifts were considered for mutation analysis. Results: Direct DNA sequencing revealed a novel homozygous amino acid substitution, Arg42Pro, in all three patients compared with a control DNA sample. The mutation occurred in the ubiquitinlike domain at the N-terminal of the protein. The patients did not display the clinical hallmarks previously seen with parkin mutations and were indistinguishable from patients with sporadic PD. Conclusions: These findings confirm the recessive character of parkin mutations causing early-onset parkinsonism and the essential role of the ubiquitinlike region, highly conserved among species, and in accordance with the proposed parkin function.

Original languageEnglish
Pages (from-to)463-466
Number of pages4
JournalNeurology
Volume56
Issue number4
Publication statusPublished - Feb 27 2001

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ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Terreni, L., Calabrese, E., Calella, A. M., Forloni, G., & Mariani, C. (2001). New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism. Neurology, 56(4), 463-466.