Tiziana Brambilla

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We analysed the parkin gene in a large consecutive series (146) of unrelated early onset Parkinson's disease (onset ?40 years of age) patients. Twelve cases (8.2%) had homozygous or compound heterozygous point mutations and/or exon rearrangements, while a single mutation was found in four subjects (2.7%). We identified eight exon rearrangements and nine(More)
The leucine-rich repeat kinase 2 (LRRK2) gene is associated with autosomal dominant Parkinson disease (PD) [1]. Its most common mutation G2019S may account for 3–6% of familial and 1–2% of sporadic PD cases. This mutation’s frequency may range from\0.1% in Asia to 43% in North Africa, even in apparently sporadic cases [2, 3] because of its low penetrance(More)
The alpha-synuclein gene (SNCA) multiplication causes autosomal dominant Parkinson Disease (PD): triplication is associated with early-onset rapidly progressing parkinsonism with a strong likelihood of developing dementia, while duplication is associated with a less severe phenotype similar to idiopathic PD. We tested for SNCA multiplication 144 unrelated(More)
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