Concomitant recovery from left spatial neglect and inflammatory dysfunction of white-matter pathways in a case of acute disseminated encephalo-myelitis (ADEM).

Spatial neglect is an invalidating neuropsychological syndrome characterized by the inability of paying attention to the side of space contralateral to a unilateral brain damage. Recent studies have suggested that lesion of white-matter pathways plays an important role in producing spatial neglect by causing a widespread functional breakdown of the network of cortical and subcortical structures that regulates orienting of spatial attention. Nonetheless, this conclusion is largely based on the study of patients who suffer combined grey and white matter damage and should be better corroborated by the study of cases with selective or predominant white matter dysfunction. Here, we describe the clinical and MRI follow-up of a patient who suffered left spatial neglect due to inflammatory Acute Disseminated Encephalo-Myelitis (ADEM) that affected the white matter. Recovery from neglect was matched with recovery from inflammatory white-matter dysfunction, despite a concomitant and progressive increase in cortical atrophy and ventricular dilatation. These findings confirm the role of white matter lesion/dysfunction in the pathogenesis of left spatial neglect.

Timing of intrathecal baclofen therapy in persons with acquired brain injury: influence on outcome.

OBJECTIVE: Evaluation of the effects of intrathecal baclofen therapy (ITB) delivered by a pump implanted at a very early stage in acquired brain injury (ABI). STUDY DESIGN: This investigation was a longitudinal prospective observational study, including a series of 13 ABI implanted within 6 months of the acute events. MAIN OUTCOME MEASURE: The Modified Ashworth Scale (MAS) and Spasms Frequency Score (SFS) have been used as a primary outcome measure. The Disability Rating Scale (DRS) and Level of Cognitive Functioning (LCF) scores have been computed in order to verify possible interferences of baclofen therapy at an early stage on a global outcome. An intrathecal bolus test was not performed. Drug tolerability was tested by oral administration of baclofen 100 mg. RESULTS: Reduction of spasticity and spasms frequency were measured 3 months after patients received the implant and at the 1-year follow-up. There was no difference found for global outcome measure between the group of patients who received the implant earlier (within 3 months) compared to the group who received it later (between 3-6 months). CONCLUSION: ITB therapy in ABI should be considered as early as possible. The implants are safe and effective in reducing spasticity. An intrathecal bolus test was not compulsory in ABI.

Magnetic resonance imaging volumes of the hippocampus in drug-naïve patients with post-traumatic stress disorder without comorbidity conditions.

Most brain imaging studies have showed smaller hippocampal volume in adults with chronic PTSD; however, some other studies have not replicated this finding. Most of these investigations included subjects with other psychiatric comorbidities, such as major depression or alcohol abuse. The prevalence of psychiatric comorbidities in PTSD is generally high and this makes it difficult, if not impossible, to disentangle the contribution of other disorders to hippocampal volume. Therefore, the main goal of the current study is to compare hippocampal volumes of healthy subjects and drug-naïve patients with PTSD caused by different types of mixed civilian traumas (i.e. car accident, physical abuse, sudden death of a family member, assault or robbery, natural disaster and traumatic abortion) and without comorbidity conditions. Magnetic resonance imaging (MRI) was used to measure the hippocampi, total cerebrum, gray matter, white matter and cerebrospinal fluid volumes in 34 patients with single diagnosis of PTSD, and 34 case-matched non-PTSD comparison subjects. The patients with single diagnosis of PTSD had an 11.8% smaller left hippocampus (p<0.001) and an 8.7% smaller right hippocampus (p=0.003) than the healthy controls. The results were controlled for the total brain volume and for gray matter volumes. Subjects with PTSD also displayed lower overall gray matter volume (p=0.006). There were no significant correlations between hippocampal volumes and illness duration or severity of PTSD. The findings indicate the presence of smaller hippocampal volumes in drug-naïve patients with single diagnosis of PTSD, compared with healthy subjects.

Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation.

BACKGROUND: Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in seizures, hemorrhage, recurrent headaches, and focal neurologic deficits. These CCMs can occur as sporadic or autosomal dominant conditions, although with incomplete penetrance and variable clinical expression. Three CCM loci have been identified, on chromosomes 7q21-22 (CCM1; Online Mendelian Inheritance in Man [OMIM] 116860), 7p13-15 (CCM2; OMIM 603284), and 3q25.2-27 (CCM3; OMIM 603285), and 3 genes have been cloned, KRIT1 on CCM1, MGC4607 on CCM2, and PDCD10 on CCM3. Mutations in KRIT1 account for more than 40% of CCMs. OBJECTIVE: To describe the results of a comprehensive evaluation of 5 Italian families affected with CCM. DESIGN: Clinical, magnetic resonance imaging, and KRIT1 gene analysis. SETTING: University academic teaching hospitals. PATIENTS: Fifteen patients with CCM diagnosed according to defined criteria and 45 at-risk, symptom-free relatives. RESULTS: Three novel and 2 described mutations were found in KRIT1. The families included 33 KRIT1 mutation carriers, 57.6% of whom had no symptoms. Magnetic resonance imaging revealed CCM lesions in 82.3% of symptom-free mutation carriers. CONCLUSIONS: The data confirm both incomplete clinical and neuroimaging penetrance in families with the KRIT1 mutation. This consideration is important in genetic counseling. Moreover, the data emphasize both the importance of magnetic resonance imaging in the diagnosis of CCM and the potential for DNA-based diagnosis to identify subjects at risk.

Reduction of cortical myoclonus-related epileptic activity following slow-frequency rTMS.

In a drug-resistant epilepsy patient with continuous forearm/hand positive myoclonia due to a focal cortical dysplasia of the right motor cortex, cortical jerk-related and electromyographic activity were recorded for 15 min before and after 1 Hz rTMS (15 min, 10% below the resting excitability threshold) of the right motor cortex. A stable negative cortical spike, time-locked with contralateral muscle jerks (60 > 100 microV), was detected only at perirolandic electrodes (maximal amplitudes: block 1 = 21.3 microV, block 2 = 22 microV, block 3 = 25.9 microV). After rTMS, only 20 muscle jerks accomplished the criterion of > 100 microV; blind back-averaging of these disclosed a topographically similar cortical spike, but with amplitude reduced by at least 50% (11.2 microV). This represents in vivo evidence of the possibility to selectively modulate the activity of an epileptic focus by intervening with local low-frequency rTMS.

Association of anti-GM1 antibodies but not of anti-cytomegalovirus, Campylobacter jejuni and Helicobacter pylori IgG, with a poor outcome in Guillain-Barré syndrome.

Few reports exist on the influence of humoral immune responses, against microorganisms involved in infections preceding Guillain-Barré syndrome (GBS) and GM1, on clinical outcome. Nor is there any data on the relation between anti-Helicobacter pylori antibodies and prognosis in patients with GBS. To address these questions, we assayed and correlated serum anti-GM1 IgG and IgM and anti-H. pylori, anti-Campylobacter jejuni and anti-cytomegalovirus (CMV) IgG with duration of hospitalization of GBS patients and prognosis at discharge. Patients with anti-GM1 alone or associated with anti-H. pylori antibodies had significant longer hospitalization to reach a low clinical score at discharge than those without (P=0.004). A significant difference was also found for the association of anti-GM1 with anti-CMV antibodies (P=0.019). A weak but significant association of anti-GM1 and anti-C. jejuni antibodies with long hospitalization and worse prognosis at discharge was also found (P=0.02). The statistical significance increased when patients with anti-GM1 and anti-microorganism antibodies were compared with those displaying anti-H. pylori or anti-CMV only. These findings provide further evidence that the level of circulating anti-GM1 IgG plays a role in determining recovery from disability in GBS patients irrespective of other IgG against microorganisms causing infections preceding GBS.