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
C2 - 15349871
AN - SCOPUS:4444269012
VL - 56
SP - 427
EP - 431
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 3
ER -