Recenti sviluppi nella diagnosi differenziale tra malattia di Parkinson e parkinsonismi atipici
Recent advances in the differential diagnosis of Parkinson’s disease and atypical parkinosnisms

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ABSTRACT

Recent advances in the differential diagnosis of Parkinson’s disease and atypical parkinosnisms

The presence of α-synuclein aggregates in the brain is the main hallmark of Parkinson’s disease (PD) as well of other atypical parkinsonisms, including multiple system atrophy (MSA) and dementia with Lewy bodies (DLB). The in vivo diagnosis of these disorders is based on clinical criteria that are characterized by unsatisfactory sensitivity and specificity. Several cases thus might be misdiagnosed, especially in the early stages when clinical symptoms overlap. A definite diagnosis can be achieved only at post-mortemafter the identification of α-synuclein aggregates in the brain. According to the disease, these aggregates affect specific cells and brain areas and are characterized by typical biochemical and morphological features. As a consequence, they are considered disease-specific biomarkers that remain confined to the brain. However, thanks to the development of an ultrasensitive technique named Real-Time Quaking Induced Conversion (RT-QuIC), traces of these specific biomarkers, undetectable with the standard diagnostic techniques, were found in the cerebrospinal fluid (CSF) and olfactory mucosa (OM) of patients with PD, DLB and MSA. This technology is currently being exploited for the analysis of OM and other peripheral tissues such as urine and blood that might contain these biomarkers, likely encapsulated in brain-derived vesicles (e.g. microvesicles, exosomes). For this reason, RT-QuIC could be soon introduced in the field of PD, DLB and MSA diagnosis, finally leading to early diagnosis and patient stratification by a simple OM, blood or urine analysis

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