Idiopathic infratentorial superficial siderosis of the central nervous system: case report and review of literature

The superficial siderosis (SS) of the central nervous system (CNS) is a rare condition characterized by a wide range of neurological manifestations directly linked to an acquired iron-mediated neurodegeneration. First described more than 100 years ago, only recently SS has been divided into two distinct entities, according to the distribution of iron deposition in the CNS: cortical superficial siderosis (cSS) and infratentorial superficial siderosis (iSS). Here we describe an adult case of iSS, with detailed clinical and radiological features. Moreover, we extensively review the literature of SS, particularly focusing on the pathogenesis, clinical-radiological classification, diagnostic algorithm and treatment options of this rare condition

A Modified Progressive Supranuclear Palsy Rating Scale

Background: The Progressive Supranuclear Palsy Rating Scale is a prospectively validated physician-rated measure of disease severity for progressive supranuclear palsy. We hypothesized that, according to experts' opinion, individual scores of items would differ in relevance for patients' quality of life, functionality in daily living, and mortality. Thus, changes in the score may not equate to clinically meaningful changes in the patient's status. Objective: The aim of this work was to establish a condensed modified version of the scale focusing on meaningful disease milestones. Methods: Sixteen movement disorders experts evaluated each scale item for its capacity to capture disease milestones (0 = no, 1 = moderate, 2 = severe milestone). Items not capturing severe milestones were eliminated. Remaining items were recalibrated in proportion to milestone severity by collapsing across response categories that yielded identical milestone severity grades. Items with low sensitivity to change were eliminated, based on power calculations using longitudinal 12-month follow-up data from 86 patients with possible or probable progressive supranuclear palsy. Results: The modified scale retained 14 items (yielding 0–2 points each). The items were rated as functionally relevant to disease milestones with comparable severity. The modified scale was sensitive to change over 6 and 12 months and of similar power for clinical trials of disease-modifying therapy as the original scale (achieving 80% power for two-sample t test to detect a 50% slowing with n = 41 and 25% slowing with n = 159 at 12 months). Conclusions: The modified Progressive Supranuclear Palsy Rating Scale may serve as a clinimetrically sound scale to monitor disease progression in clinical trials and routine

Ophthalmic segment of internal carotid artery aneurysm mimicking normal tension glaucoma.

Abstract A 41-year-old caucasian male was referred to the Glaucoma clinic at our tertiary referral centre with a diagnosis of normal tension glaucoma after the finding of increased bilateral asymmetrical cup/disc ratios, with normal intraocular pressures. On examination, the authors confirmed the presence of bilateral reduced optic disc rims alongside a left pale residual rim, and a further discovered a positive dyschromatopsia with a bilateral visual field alteration. The left visual field showed a relative scotoma confined to the vertical midline. After initiating investigation for suspected glaucoma, the authors ordered a magnetic resonance imaging that evidenced an internal carotid aneurysm along the ophthalmic segment, stretching across the optic chiasm with a major involvement of the left optic nerve and partial involvement of the right optic nerve. Aneurysm embolisation was performed with complete resolution of signs and symptoms achieved 5 months post-operatively. Despite glaucoma being the most frequent condition causing optic disc atrophy and visual field loss, it is not the only cause. Any atypical visual field defect not in keeping with a glaucomatous field loss should be further investigated. The ophthalmologist should thoroughly assess all signs that could lead to different diagnosis

No association between essential tremor and migraine: A case-control study

Essential tremor (ET) and migraine headache are considered comorbid diseases on the basis of uncontrolled studies. We investigated the frequency of migraine in patients with ET by enrolling 110 patients with ET and 110 age-and sex-matched healthy controls in a case-control study. We found no significant differences in the frequency of lifetime and current migraine between patients and controls, even in patients stratified for age. Tremor had similar clinical features in patients with ET with and without migraine except that females predominated in patients with ET and migraine. Migraine also had similar characteristics in both patients with ET and migraine and in controls with migraine. Our study excludes a comorbid association between ET and migraine. When ET and migraine coexist their clinical phenotype and evolution remain almost unchanged

No association between essential tremor and migraine: A case-control study

Essential tremor (ET) and migraine headache are considered comorbid diseases on the basis of uncontrolled studies. We investigated the frequency of migraine in patients with ET by enrolling 110 patients with ET and 110 age-and sex-matched healthy controls in a case-control study. We found no significant differences in the frequency of lifetime and current migraine between patients and controls, even in patients stratified for age. Tremor had similar clinical features in patients with ET with and without migraine except that females predominated in patients with ET and migraine. Migraine also had similar characteristics in both patients with ET and migraine and in controls with migraine. Our study excludes a comorbid association between ET and migraine. When ET and migraine coexist their clinical phenotype and evolution remain almost unchanged

The potential prognostic role of cardiovascular autonomic failure in α-synucleinopathies.

Cardiovascular autonomic failure is the second most common dysautonomic feature of α-synucleinopathies and has significant impact on daily activities and quality of life. Here we provide a systematic review of cardiovascular autonomic failure in α-synucleinopathies, emphasizing its impact on cognitive functions and disease outcomes. Articles spanning the period between January 1985 and April 2012 were identified from the PubMed database using a keyword-based search. Epidemiological studies highlight the negative prognostic effect of cardiovascular autonomic failure on cardiovascular and cerebrovascular outcomes and overall mortality in all α-synucleinopathies. Altered cerebral perfusion, vascular pressure stress, and related disruption of the blood-brain barrier may also contribute to the white matter hyperintensities and cognitive dysfunction frequently found in patients affected by neurocardiovascular instability. These findings support the hypothesis that cardiovascular autonomic failure may play a negative prognostic role in α-synucleinopathies and suggest that precocious screening and therapeutic management of cardiovascular autonomic failure may positively impact disease course. © 2012 The Author(s) European Journal of Neurology © 2012 EFNS

Dopamine transporter immunoreactivity in peripheral blood lymphocytes in Parkinson's disease

There is increasing interest in the identification of biological markers for the early diagnosis of Parkinson's disease (PD). Previous studies indicate changes of dopamine content, tyrosine hydroxylase immunoreactivity and dopamine receptors in peripheral blood lymphocytes (PBL) in PD. Here we demonstrate a reduction of dopamine transporter immunoreactivity in PBL in the early clinical stages of the disease. These findings contribute to our understanding of the peripheral dopamine system in P

Reduced dopamine in peripheral blood lymphocytes in Parkinson's disease

The early clinical symptoms of Parkinson's disease (PD) may be difficult to perceive and are frequently overlooked. Thus, interest has focused on the identification of biological or instrumental markers that may contribute to the early diagnosis of PD, with the aim of introducing neuroprotective therapies at the very start of illness. Impairment of nigrostriatal dopamine transmission can be visualized in vivo by functional imaging techniques, but these are rather complex and expensive examinations, available only in selected institutions. Here we show that dopamine content and tyrosine hydroxylase immunoreactivity are reduced in peripheral blood lymphocytes (PBL) in the early stages of PD. These data suggest that PBL may represent a simple and useful tool with which to identify precociously dopamine impairment in PD

Systemic mastocytosis revisited with an emphasis on skeletal manifestations

Systemic mastocytosis (SM) is a rare form of mastocytosis that can affect various organ systems. Bone involvement is the most common and prominent imaging feature in patients with SM regardless of the subtype. Furthermore, bone involvement is a prognostic factor as it may entail an aggressive course of the disease. Diagnosis is established by bone marrow biopsy complemented by imaging modalities such as radiography, CT, and magnetic resonance (MR) imaging. The radiographic and CT appearances are that of sclerotic, lytic, or mixed patterns with focal or diffuse distribution, involving primarily the axial skeleton and the ends of the long bones. Bone marrow infiltration is best recognized on MR imaging. Osteoporosis is common in SM; thus, a bone mineral density measurement at lumbar spine and proximal femur by dual-energy X-ray absorptiometry should be obtained. Imaging plays a huge part in the diagnostic process; when skeletal imaging findings are carefully interpreted and correlated with clinical features, they can lead to the suspicion of SM. The primary aims of this review article were to focus on the role of imaging in detection and characterization of skeletal patterns of SM and to discuss relevant clinical features that could facilitate prompt and correct diagnosis