Mark A. Hellmann

Effect of deep brain subthalamic stimulation on camptocormia and postural abnormalities in idiopathic Parkinson's disease.

Camptocormia has been described in patients with idiopathic Parkinsons disease (PD). We present a patient with young‐onset PD in whom the disease progressed over 25 years to a crippling state with severe camptocormia and bent knees. The camptocormia along with other parkinsonian symptoms improved dramatically after bilateral subthalamic deep brain stimulation.

Tumefactive demyelination and a malignant course in an MS patient during and following fingolimod therapy

Finglimod, a sphingosine 1-phosphate receptor modulator, is the first orally administered therapy approved for prophylaxis in multiple sclerosis (MS). Several reports in the last two years suggested that it might be associated with severe augmentation of disease activity upon initiation or discontinuation of therapy. We present an MS patient who developed a giant cavitating brain lesion under fingolimod and in whom cessation of therapy was associated with a very active course. Brain biopsy revealed the lesion to be due to an active demyelinating inflammatory process. With the current wave of immunosuppressive treatments for MS, there is a need to be vigilant to side effects and risks not identified in large multicenter trials, collect the data and set guidelines and precautions for present and future medications.

Focal dystonia as the presenting sign in Creutzfeldt-Jakob disease

A variety of movement disorders may occur during the course of prion disease. We describe a unique patient who had focal upper limb dystonia as the presenting symptom of familial codon 200 mutation‐positive Creutzfeldt‐Jakob disease.

Unilateral lower limb rest tremor is not necessarily a presenting symptom of Parkinson's disease†

Lower leg rest tremor is an uncommon symptom of neurological disease. Review of the files of 16 patients who presented with lower leg tremor (average age 58 ± 16 years; average disease duration 6.8 ± 8.5 years) yielded a diagnosis of Parkinsons disease (PD) in 5 and probable multiple system atrophy (MSA) in 3. In 4 patients with an indeterminate diagnosis, cardiac MIBG SPECT was positive in 3, indicating PD, and negative in one, suggesting MSA. Two patients each had psychogenic tremor and drug‐induced parkinsonism. Although lower leg tremor is considered an unusual presentation of PD, it should raise suspicions of MSA and other neurodegenerative disorders.

Retinal Nerve Fiber Layer May Be Better Preserved in MOG-IgG versus AQP4-IgG Optic Neuritis: A Cohort Study

Background Optic neuritis (ON) in patients with anti-myelin oligodendrocyte glycoprotein (MOG)-IgG antibodies has been associated with a better clinical outcome than anti-aquaporin 4 (AQP4)- IgG ON. Average retinal nerve fiber layer thickness (RNFL) correlates with visual outcome after ON. Objectives The aim of this study was to examine whether anti-MOG-IgG ON is associated with better average RNFL compared to anti-AQP4-IgG ON, and whether this corresponds with a better visual outcome. Methods A retrospective study was done in a consecutive cohort of patients following anti-AQP4-IgG and anti-MOG-IgG ON. A generalized estimating equation (GEE) models analysis was used to compare average RNFL outcomes in ON eyes of patients with MOG-IgG to AQP4-IgG-positive patients, after adjusting for the number of ON events. The final mean visual field defect and visual acuity were compared between ON eyes of MOG-IgG and AQP4-IgG-positive patients. A correlation between average RNFL and visual function was performed in all study eyes. Results Sixteen patients were analyzed; ten AQP4-IgG-positive and six MOG-IgG-positive. The six patients with MOG-IgG had ten ON events with disc edema, five of which were bilateral. In the AQP4-IgG-positive ON events, 1/10 patients had disc edema. Final average RNFL was significantly better in eyes following MOG-IgG-ON (75.33μm), compared to 63.63μm in AQP4-IgG-ON, after adjusting for the number of ON attacks (GEE, p = 0.023). Mean visual field defects were significantly smaller (GEE, p = 0.046) among MOG-IgG positive ON eyes compared to AQP-IgG positive ON eyes, but last visual acuity did not differ between the groups (GEE, p = 0.153). Among all eyes, average RNFL positively correlated with mean visual field defect (GEE, p = 0.00015) and negatively correlated with final visual acuity (GEE, p = 0.00005). Conclusions Following ON, RNFL is better preserved in eyes of patients with MOG-IgG antibodies compared to those with AQP4-IgG antibodies, correlating with better visual outcomes.

Prior damage to lower motor neuron triggering myasthenia gravis

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Neuromyelitis Optica Spectrum Disorder: Disease Course and Long-Term Visual Outcome.

Background:Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disease that classically manifests as attacks of optic neuritis (ON) and transverse myelitis (TM). The prevalence, course, and severity of NMOSD vary considerably. Few studies report the neuro-ophthalmologic disease course and visual outcome. Objective:We sought to describe the course and long-term visual outcome in a cohort of NMOSD patients treated in a single tertiary referral center. Methods:The database was searched for all patients with NMOSD who were treated in our center from 2005 to 2014. Data collected included detailed visual outcome, grade of final visual disability, neuroimaging, and results of optical coherence tomography. Details on relapses, acute episodes, and maintenance therapies were recorded. Results:Of the 12 patients with NMOSD who were followed for a mean duration of 9.06 years, 10 (83%) were women. Mean age at presentation was 33.90 ± 16.94 years. Patients with acute attacks were treated with high-dose intravenous methylprednisolone and offered immunosuppressive maintenance. ON occurred in 18 eyes of 12 patients, with a cumulative total of 37 ON episodes. At the end of the follow-up period, no patient had become legally blind and only 1 patient had lost her drivers license. Pain associated with acute ON was common (83%), whereas optic disc edema was a rare finding in our patient cohort (6%). Conclusions:In this retrospective series of 12 patients with NMOSD, followed for a mean of 9.06 years, acute-phase treatment was given within 8 days of relapse, followed by maintenance therapy. Functional visual outcome, as measured by the World Health Organization/International Classification of Diseases, Tenth Revision visual disability scale was better than reported in previous studies and drivers license was preserved in 11 of 12 patients. Pain accompanied 83% of ON attacks and may not aid differentiating multiple sclerosis from NMOSD-related ON.

Myelin oligodendrocyte glycoprotein-positive optic neuritis masquerading as pseudotumor cerebri at presentation

Optic neuritis (ON) is a common clinical manifestation in myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease. Other clinical manifestations include acute demyelinating encephalomyelitis, transverse myelitis and neuromyelitis optica spectrum disorders. Uncommon presentations of MOG-positive disease have recently been reported. ON in MOG-positive disease commonly involves the anterior portion of both optic nerves, leading to bilateral disc swelling. During the early stages of ON, in the setting of bilateral disc swelling and pain, patients may initially be suspected as pseudotumor cerebri (PTC). In this study, we report five cases presenting early in the course of MOG-IgG-related ON, which were misdiagnosed as PTC in the emergency department. MOG-IgG-positive ON requires timely treatment to prevent RNFL and vision loss secondary to the high relapse rate associated with these antibodies. Our aim is to increase the awareness of the unique findings of MOG-IgG-positive ON, which may initially mimic PTC, thereby delaying treatment.

Recurrent optic neuritis – Different patterns in multiple sclerosis, neuromyelitis optica spectrum disorders and MOG-antibody disease

BACKGROUND Optic neuritis is a frequent finding in multiple sclerosis (MS) and in neuromyelitis optica spectrum disorder (NMOSD), as well as in Myelin-Oligodendrocyte Glycoprotein (MOG) -positive disease. While both NMOSD and MOG-antibody disease are known to be associated with a humoral, antibody-mediated attack against a specific antigen, much less is known about the etiology and pathogenesis of MS. The aim of this study was to determine if the localization of recurrent episodes of ON follows the same pattern in MS as in NMOSD and in MOG-positive recurrent ON. METHODS We retrospectively reviewed our database to identify patients with recurrent ON. The eye affected in each episode of ON was recorded, and the findings were analyzed. RESULTS Forty-seven patients met the inclusion criteria. In the MS group, all episodes of ON recurred on the same side in 15 of the 29 patients (51.7%), accounting for 32 of the total 78 episodes (41%).In the NMSOD group, all episodes of ON recurred on the same side in 2 of the 12 patients (16.6%), accounting for 6 of the total 49 episodes (12.5%).In the MOG-positive group, all episodes of ON recurred on the same side in 1 out of 6 patients (16.6%), accounting for 2 of 21 episodes (9.5%).The between-group difference in the rate of recurrences affecting the ipsilateral side was statistically significant (p = .0007 and p = .0085 for the MS-NMOSD and MS-MOG groups, respectively). CONCLUSIONS The pattern of recurrent ON differs significantly between MS and NMOSD and MOG-positive recurrent ON. This finding suggests that in MS recurrences may be provoked by previous tissue damage, disruption of the blood-brain barrier, and other local factors while in NMOSD and MOG-antibody disease attacks are indeed due to localization of the auto antigen.

A non-travel related case of Angiostrongylus cantonensis eosinophilic meningomyelitis acquired in Israel

• To our knowledge, this is the first reported case of Angiostrongylus cantonensis meningomyelitis in Israel.