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

Research output: Contribution to journalArticle

47 Citations (Scopus)

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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Parkinsonian Disorders
Mutation
Genes
Siblings
Missense Mutation
Amino Acid Substitution
DNA Sequence Analysis
Parents
DNA
Proteins

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.

New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism. / Terreni, L.; Calabrese, E.; Calella, A. M.; Forloni, Gianluigi; Mariani, C.

In: Neurology, Vol. 56, No. 4, 27.02.2001, p. 463-466.

Research output: Contribution to journalArticle

Terreni, L, Calabrese, E, Calella, AM, Forloni, G & Mariani, C 2001, 'New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism', Neurology, vol. 56, no. 4, pp. 463-466.
Terreni L, Calabrese E, Calella AM, Forloni G, Mariani C. New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism. Neurology. 2001 Feb 27;56(4):463-466.
Terreni, L. ; Calabrese, E. ; Calella, A. M. ; Forloni, Gianluigi ; Mariani, C. / New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism. In: Neurology. 2001 ; Vol. 56, No. 4. pp. 463-466.
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AU - Mariani, C.

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N2 - 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.

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