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Our objective was to determine whether substantia nigra (SN) hyperechogenicity is greater in spinocerebellar ataxias (SCA) with nigrostriatal affectation than in ataxias without it. A cross-sectional case-control study analyzing four groups of patients was conducted: 1) nigrostriatal ataxias (SCA3 and SCA6), 2) nigrostriatal healthy controls matched by age and sex, 3) non-nigrostriatal ataxias (FRDA and SCA7), and 4) non-nigrostriatal healthy controls matched by age and sex. All the patients underwent a transcranial ultrasound performed by an experienced sonographer blinded to the clinical, genetic, and neuroimaging data. The SN area was measured and compared in the four groups. The SN area was also correlated with clinical features and genetic data in the two ataxia groups. We examined 12 patients with nigrostriatal ataxia (11 SCA3 and 1 SCA6), 12 nigrostriatal healthy control patients, 7 patients with non-nigrostriatal ataxia (5 FRDA and 2 SCA7), and 7 non-nigrostriatal healthy control patients. The median (IQR) SN area (cm(2)) was greater in the nigrostriatal ataxias compared with the controls (right SN, 0.43 [0.44] vs. 0.11 [0.25]; P=0.001; left SN, 0.32 [0.25] vs. 0.11 [0.16]; P=0.001), but was similar among the non-nigrostriatal ataxias and controls. There were no statistically significant differences in the SN area between the nigrostriatal and non-nigrostriatal ataxias, although there was a tendency for a greater left SN area in the nigrostriatal compared with the non-nigrostriatal ataxias (0.32 [0.25] vs. 0.16 [0.24], P=0.083). SN echogenicity is markedly greater in ataxias with nigrostriatal pathology than in controls. The role of SN hyperechogenicity in differentiating ataxias with and without nigrostriatal pathology should be elucidated in future studies.

Introduction: Hypercoagulable states have been reported as an established risk factor for cerebral venous thrombosis, but they have also been proposed as a predisposing factor for cerebral ischemia of arterial origin, especially among young patients. This may have implications on therapeutic management and secondary prevention. We have studied the frequency of prothrombotic abnormalities in young patients with ischaemic stroke, as other classic risk factors are less common in this group., Materials and Methods: Observational study with sequential inclusion of patients under 55 with stroke or transient ischaemic attack (TIA) admitted to the Stroke Unit from January 2005 through December 2007. We analysed demographic data, severity and subtype of stroke, risk factors, including the presence of hypercoagulable states, and outcome., Results: We included 100 patients, of whom 65 were men. The mean age was 42.6 ± 8.9 years, 46% with a hypercoagulable state, and no sex differences. Acquired hyperhomocysteinemia was the most common abnormality (18%), followed by protein C or S deficiency (8%), factor V Leiden mutation (5%) and methyl-tetrahydro-folate-reductase (MTHFR) C677T mutation (5%). Other findings included anticardiolipin antibodies (3%), presence of lupus anticoagulant (2%), thrombocytosis (3%) and G20210A prothrombin gene mutation (3%). No association was found between these states and the presence of other vascular risk factors, or more severe stroke or worse outcomes. There was an increased presence of these abnormalities in patients who were classified as atherothrombotic stroke (p = 0.04)., Conclusions: The hypercoagulable states are common in young patients with ischaemic stroke, being present in up to 46% of them.