Novel Chronic Mouse Model of Cerebral Cavernous Malformations.

Background and Purpose- Cerebral cavernous malformations (CCMs) are vascular malformations of the brain that lead to cerebral hemorrhages. A pharmacological treatment is needed especially for patients with nonoperable deep-seated lesions. We and others obtained CCM mouse models that were useful for mechanistic studies and rapid trials testing the preventive effects of candidate drugs.

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in vacuolar protein sorting 13C (VPS13C).

A new F-box protein 7 gene mutation causing typical Parkinson's disease.

Background: Recessive mutations in the F-box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian-pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.

Methods: Whole exome and targeted Sanger sequencing were performed for genetic analysis in a family with two members affected by Parkinson's disease (PD).

[Insulin tolerance tests].

Impaired sensitivity to insulin is a frequent clinical situation and interest in measuring sensitivity to insulin has greatly increased since Reaven described the X syndrome in 1988. This syndrome is an association of increased serum triglycerides, high blood pressure, low levels of HDL and insulin resistance; affected patients have an increased risk of coronary artery disease. Several methods have been described to measure insulin resistance.

[Contact (prekallikrein) and fibrinolytic (plasminogen/antiplasmin value) system in the physiopathology of vascular complications of diabetes].

Both micro and macro-angiopathy involve interaction of blood vessel and plasma factors which may be altered in diabetes. Little is known concerning changes in contact and fibrinolysis factors as prekallikrein, plasminogen and fast antiplasmin in diabetes. We tested also the plasminogen/antiplasmin ratio in 151 diabetics and 64 normal subjects (18 to 74 years old).