1
Here we studied dopaminergic neurons derived from patients with idiopathic and familial PD.
2
Loss of function mutations in PARK2 cause familial PD in an autosomal recessive manner.
3
Objective: To determine inheritance patterns and clinical characteristics of familial PD (F-PD) in Tunisia.
4
The relationship of these features to actual PD risk requires longitudinal observation of LRRK2 familial PD cohorts.
5
None of the patients had familial PD.
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In the 6 familial PD patients, 1 had exon 5 deletion.
7
The G2019S point mutation within the LRRK2 kinase domain is the most common cause of familial PD.
8
Methods: DNA was extracted from peripheral blood of 33 sporadic PD patients and 6 familial PD patients.
9
We report here the immunohistochemical, biochemical and ultrastructural characterization of alpha-syn neuropathology in a case of familial PD with the A53T alpha-syn gene mutation.
10
DJ-1 is a chaperone protein involved in the protection against PD and genetic mutations in this protein have been shown to cause familial PD.
11
Methods: We included nonparkinsonian first-degree relatives of LRRK2 G2019S familial PD cases and unrelated healthy controls participating in established multiplex family LRRK2 cohorts.
