November Young Researcher Highlight 
Family history in Parkinson's disease: A national cross-sectional study

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The paper entitled “Family history in Parkinson's disease: A national cross-sectional study” deals with the investigation of family history in patients with Parkinson’s disease (PD), assessing the frequency of familial forms and comparing demographic and clinical features between familial and sporadic patients. Other neurological and psychiatric disorders have been also evaluated across families, concentrating on essential tremor, cognitive impairment, depression, and bipolar disorder. 

The purpose of this paper is to focus on family history in patients with Parkinson’s disease, since its detection may play a role not only in early diagnosis and treatment, but also in identifying PD clusters that represent an ideal population to investigate genetic and environmental risk factors for PD and other neurological and psychiatric disorders. 

Our findings emphasize the importance of a complete and in-depth familial history collection, since a positive PD family history recurred more frequently than previously reported, involving approximately one-third of the total study population. Importantly, 33.4% of patients with familial PD referred affected relatives of a higher degree than the first, which should prompt clinicians to investigate family history at least up to the third degree of kinship. 

In familial PD, the mean age at onset was significantly lower and a positive genetic test resulted more commonly than in sporadic forms. No statistically significant difference emerged in the distribution of motor and non-motor symptoms, except for hyposmia, which was more frequently reported in the familial PD group. 

Considering the other neuropsychiatric disorders investigated, a positive family history for essential tremor was outlined in 2% of patients, while a substantial 6.2% of participants described as “possible” the presence of ET in the pedigree. 

Cognitive and mood disturbances also resulted to run in PD patients’ families, likely suggesting an increased propensity to develop neurodegenerative and neuropsychiatric diseases. Additionally, male patients showed a trend to have a family history of cognitive decline more often than women. 

Finally, this research enforced and encouraged clinical collaboration between Italian centers for Parkinson’s disease, allowing for a very large and representative study population to be presented. 

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Young Researcher Highlights are selected monthly by the Steering Committee of the Young Members Group

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