OBJECTIVE: Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy. Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-MSA-C sporadic cerebellar ataxia. The aim of this study is to genetically screen genes involved in SCA in a Japanese single-hospital cohort. METHODS: Over an 8-year period, 140 patients with cerebellar ataxia were observed. There were 109 patients with sporadic cerebellar ataxia (no family history for at least four generations, 73 patients with MSA-C, and 36 patients with non-MSA-C sporadic cerebellar ataxia) and 31 patients with familial cerebellar ataxia. We performed gene analysis comprising SCA1, 2, 3, 6, 7, 8, 12, 17, 31, and dentatorubro-pallidoluysian atrophy (DRPLA) in 28 of 31 non-MSA-C sporadic patients who requested the test. Familial patients served as a control. RESULTS: Gene abnormalities were found in 57% of non-MSA-C sporadic cerebellar ataxia cases. Among patients with sporadic cerebellar ataxia, abnormalities in SCA6 were the most common (36%), followed by abnormalities in SCA1 (7.1%), SCA2 (3.6%), SCA3 (3.6%), SCA8 (3.6%), and DRPLA (3.6%). In contrast, gene abnormalities were found in 75% of familial cerebellar ataxia cases, with abnormalities in SCA6 being the most common (29%). For sporadic versus familial cases for those with SCA6 abnormalities, the age of onset was older (69 years vs. 59 years, respectively), and CAG repeat length was shorter (23 vs. 25, respectively) in the former than in the latter (not statistically significant). CONCLUSION: Autosomal-dominant mutations in SCA genes, particularly in SCA6, are not rare in sporadic cerebellar ataxia. The reason for the frequency of mutations in SCA6 remains unclear; however, the reason may reflect a higher age at onset and variable penetrance of SCA6 mutations.
Age of Onset ; Asian Continental Ancestry Group* ; Atrophy ; Cerebellar Ataxia ; Cohort Studies* ; Diagnosis ; Family Characteristics ; Genetic Testing* ; Heredity ; Humans ; Multiple System Atrophy ; Penetrance ; Spinocerebellar Ataxias*

Retrograde myocardial protection plays an important role in cardiac surgery and is widely used. We herein report a rare cardiac surgical case complicated with small coronary sinus ostium in which the cannula of retrograde cardioplegia could not be inserted. A 58 years old man was referred for the treatment of regurgitation and aortic regurgitation. Preoperative ECG gated computed tomography (CT) showed that the orifice of the largest coronary sinus was located in the right atrium with a diameter of only 4 mm with an other 3 smaller orifice in the right atrium and ventricle, which appeared to make it difficult to perform retrograde myocardial protection. The operative finding was consistent with the preoperative CT finding and mitral valve repair and aortic valve replacement were performed using only selective antegrade myocardial protection. We should bear in mind that small coronary ostium exists and preoperative assessment of the size of coronary sinus might be important.

We herein report a rare case of unruptured, giant left coronary sinus of Valsalva aneurysm and discuss surgical pitfalls associated with sinus of Valsalva aneurysms. A 63-year-old man was referred to us for clinical diagnosis and surgical treatment of a huge mass in the mediastinum. Enhanced computed tomography (CT) imaging revealed that the mass was a left coronary sinus of Valsalva aneurysm with a diameter of 74×57 mm ; moreover, the left coronary artery originated from the aneurysmal wall. In addition, echocardiography showed moderate aortic regurgitation (AR) caused by dilatation of the aortic annulus. Based on these findings, the Bentall procedure was selected for the Valsalva aneurysm and significant AR. The orifice of the aneurysm was 15×15 mm in size, and the aortic wall of the left coronary sinus was relatively thin. The left main trunk was injured due to severe adhesion between the trunk and the aneurysm ; therefore, vein patch repair was performed with a saphenous vein graft. Since the aortic annulus of the left coronary cusp was fragile, proximal anastomosis of the composite graft to the lesion had to be placed in the fibrous continuity between the aortic and mitral valves. With respect to the proximal anastomosis at the aortic annulus of the left coronary cusp, the suture line was covered with a bovine pericardium patch as there were no remnants of the normal aortic wall. The postoperative course was uneventful, and postoperative CT revealed complete resection of the aneurysm with no evidence of stenosis of the left main trunk.

A 75-year-old male with a previous history of coronary artery bypass grafting (LITA-LAD, RITA-RA-4PD-14PL) was referred to our hospital for congestive heart failure. Cardiac workup revealed severe ischemic mitral regurgitation which required surgical correction. His preoperative coronary arterial computed tomography demonstrated total occlusion of both orifices of the native coronary arteries, and the complete dependence of his myocardial blood supply on the patent bypass grafts without any evidence of ischemia. Therefore, antegrade cardioplegia could not be applied for cardiac protection during the procedure. Continuous retrograde cardioplegia was planned to be applied in a case where both arterial grafts could be dissected and clamped whereas systemic hyperkalemia and mild hypothermia would be applied in case where the clamp would be impossible. Intraoperatively, both arterial grafts could be dissected and clamped and we performed mitral annuloplasty and tricuspid annuloplasty using continuous retrograde cardioplegia. The patient could be weaned off cardiopulmonary bypass without difficulty, and his postoperative course was uneventful. We conclude that continuous retrograde cardioplegia is a safe and viable option, especially when antegrade cardioplegia is not securely delivered due to an occluded coronary ostia.