Abstract
DJ-1 gene mutations have been found to cause early-onset Parkinson's disease. We report a family from southern Italy with three brothers affected by early-onset parkinsonism, dementia, and amyotrophic lateral sclerosis. Molecular analysis of the DJ-1 gene in two living patients showed a novel homozygous mutation in exon 7 (E163K) and a new homozygous mutation (g.168_185dup) in the promoter region of the gene. Both mutations cosegregated with the disease and were detected in a heterozygous state in the patients' mother and their healthy siblings. Our findings expand the spectrum of clinical presentations associated with mutations in DJ-1 gene.
MeSH terms
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Amyotrophic Lateral Sclerosis / complications
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Amyotrophic Lateral Sclerosis / genetics*
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Blotting, Northern / methods
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DNA Mutational Analysis / methods
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Dementia / complications
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Dementia / genetics*
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Exons
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Family Health
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Female
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Glutamic Acid / genetics
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Humans
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Intracellular Signaling Peptides and Proteins
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Male
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Mucoproteins / genetics
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Mutation*
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Oncogene Proteins / genetics*
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Parkinsonian Disorders / complications
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Parkinsonian Disorders / genetics*
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Protein Deglycase DJ-1
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RNA, Messenger / biosynthesis
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Reverse Transcriptase Polymerase Chain Reaction / methods
Substances
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Intracellular Signaling Peptides and Proteins
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Mucoproteins
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Oncogene Proteins
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RNA, Messenger
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lysin, gastropoda
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Glutamic Acid
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PARK7 protein, human
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Protein Deglycase DJ-1