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 language | English |
|---|---|
| Pages (from-to) | 463-466 |
| Number of pages | 4 |
| Journal | Neurology |
| Volume | 56 |
| Issue number | 4 |
| Publication status | Published - Feb 27 2001 |
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ASJC Scopus subject areas
- Neuroscience(all)
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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 journal › Article
}
TY - JOUR
T1 - New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism
AU - Terreni, L.
AU - Calabrese, E.
AU - Calella, A. M.
AU - Forloni, Gianluigi
AU - Mariani, C.
PY - 2001/2/27
Y1 - 2001/2/27
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.
AB - 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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M3 - Article
VL - 56
SP - 463
EP - 466
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 4
ER -