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 language | English |
|---|---|
| Pages (from-to) | 427-431 |
| Number of pages | 5 |
| Journal | Annals of Neurology |
| Volume | 56 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Sep 2004 |
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ASJC Scopus subject areas
- Neuroscience(all)
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Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. / Rohé, Christan F.; Montagna, Pasquale; Breedveld, Guido; Cortelli, Pietro; Oostra, Ben A.; Bonifati, Vincenzo.
In: Annals of Neurology, Vol. 56, No. 3, 09.2004, p. 427-431.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism
AU - Rohé, Christan F.
AU - Montagna, Pasquale
AU - Breedveld, Guido
AU - Cortelli, Pietro
AU - Oostra, Ben A.
AU - Bonifati, Vincenzo
PY - 2004/9
Y1 - 2004/9
N2 - 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.
AB - 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.
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U2 - 10.1002/ana.20247
DO - 10.1002/ana.20247
M3 - Article
VL - 56
SP - 427
EP - 431
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 3
ER -