Cortical myoclonus in Huntington's disease.

We describe three patients with Huntington's disease, from two families, in whom myoclonus was the predominant clinical feature. The diagnosis was confirmed at autopsy in two cases and by DNA analysis in all three. These patients all presented before the age of 30 years and were the offspring of affected fathers. Neurophysiological studies documented generalised and multifocal action myoclonus of cortical origin that was strikingly stimulus sensitive, without enlargement of the cortical somatosensory evoked potential. The myoclonus improved with piracetam therapy in one patient and a combination of sodium valproate and clonazepam in the other two. Cortical reflex myoclonus is a rare but disabling component of the complex movement disorder of Huntington's disease, which may lead to substantial diagnostic difficulties

Glioneuronal tumors: clinicopathological findings and treatment options

Glioneuronal tumors are very rare CNS neoplasms that demonstrate neuronal differentiation, composed of mixed glial and neuronal cells. The majority of these lesions are low grade and their correct classification is crucial in order to avoid misidentification as 'ordinary' gliomas and prevent inappropriate aggressive treatment; nevertheless, precise diagnosis is a challenge due to phenotypic overlap across different histologic subtype. Surgery is the standard of therapeutic approach; literature concerning the benefit of adjuvant treatments is inconclusive and a globally accepted treatment of recurrence does not exist. Targetable mutations in the genes BRAF and FGFR1/2 are recurrently found in these tumors and could take a promising role in future treatment management

Ocular adnexal diffuse large B-cell lymphoma: local disease correlates with better outcomes

Purpose: To describe the clinical, immunohistochemical and prognostic features, as well as outcomes of a large series of patients with orbital and periorbital diffuse large B-cell lymphoma (DLBCL). Design: This study is a multicentre, retrospective non-comparative consecutive case series. Methods: The setting for this study was institutional. A total of 37 consecutive patients identified from the institutions' databases with periorbital and orbital DLBCL were enrolled in the study. A retrospective chart review was used for observation. The main outcome measures were patient demographics, clinical features, imaging, immunohistochemical and histopathological data, treatments administered, and survival. Results: A total of 20 out of 37 cases (54.1%) represented localised periorbital disease (group L), 11 of 37 (29.7%) had systemic disease at presentation with periorbital disease (group S1), and 6 of 37 (16.2%) had previous history of systemic lymphoma (group S2). In all, 28 out of 30 (93.3%) patients were CD20+, 5 of 25 (20%) were CD3+, and 11 of 11 (100%) were CD79a+ (varying denominators reflect the different numbers of patients tested). A total of 25 out of 32 patients (78.1%) received chemotherapy, 14 (43.8%) received rituxmab plus chemotherapy, and 19 (59.3%) received radiotherapy. Nine deaths occurred, one in group L (not lymphoma related), six in group S1, and two in group S2. Five-year Kaplan–Meier survival estimates were 55.9% for all cases, 90.9% for group L, 36.0% for group S1, and 0% for group S2. One-year progression-free survival estimates in groups S1 and S2 combined were 58.3% for patients treated with rituximab and 28.6% for those who were not. Conclusions: To our knowledge, this report represents the largest series of patients with periorbital and orbital DLBCL in the literature. The difference in survival between groups L, S1 and S2 was striking, reflecting the grave prognosis of systemic DLBCL, but conversely the relatively optimistic outlook for patients with localised disease. Rituximab plus chemotherapy may be associated with increased survival.S.N. Madge, A. McCormick, I. Patel, E. Hatef, V. Menon, V.C. Prabhakaran, L. Irion, R. Bonshek, S. Honovar, B. Leatherbarrow, B. Esmaeli and D. Selv