Long-Term Survival after Progressive Multifocal Leukoencephalopathy in a Patient with Primary Immune Deficiency and NFKB1 Mutation.

PURPOSE: To describe the development of progressive multifocal leukoencephalopathy (PML) in a patient with primary immune deficiency (PID) due to a NFKB1 (nuclear factor kB subunit 1) mutation, who was treated successfully with a combination of mirtazapine and mefloquine. METHODS: We've based the treatment of our patient on literature research and provide a review of PML in CVID patients. RESULTS: Only a few reports have been published on the occurrence of PML in PID. PML is mainly observed in patients with reduced cellular immunity, which was not the case in our patient. Successful treatment options in this population are limited. Though severely disabled, our patient still survives, more than 4 years after symptom onset and shows consistent improvement on MRI (magnetic resonance imaging) and CSF (cerebrospinal fluid) analysis. CONCLUSION: We conclude that some patients with PML might be treatable and can show long-term survival although neurological deficits remain. Involvement of humoral immunity in the pathogenesis of PML as well as the possible role of NFKB1 mutations in response to specific pathogens deserves further investigation.

Mild encephalitis with reversible splenial (MERS) lesion syndrome due to influenza B virus.

We describe a 16-year-old boy with mild encephalitis with reversible lesions in the white matter and splenium of corpus callosum as a complication of an influenza B virus infection. Although more common in Asiatic children, it can also occur in Caucasian children and adults. There are several possible causes, including metabolic disorders, hypertension and infection, and the prognosis is usually good, even without treatment.

Gait initiation in Parkinson's disease: comparison of timing and displacement during anticipatory postural adjustments as a function of motor severity and apathy in a large cohort.

Introduction: Gait initiation is preceded by three anticipatory postural adjustment (APA) phases. In Parkinson's disease (PD) generated force, displacement and timing during APA differ from healthy controls. APA might be influenced by disease status, weight or emotion. It is unknown how motor severity, disease duration or presence of apathy influences APA timing and displacement. Methods: We included 99 people with PD and 50 healthy controls (HC) to perform five gait initiation trials following an auditory cue. Force plates measured timing and center of pressure (CoP) displacement during APA phases. Results: Time to gait initiation (tGI) was higher in the PD group (p < 0.001, t = 2.74, 95%CI (0.008, 0.066)). The first two APA phases (APA1 and APA2a) lasted longer in PD (respectively p < 0.001, t = 3.87, 95%CI (0.091, 0.28) and p < 0.001, t = 4.1, 95%CI (0.031, 0.091)). Mean CoP displacement, variability in timing and displacement did not differ. A multiple regression model was used to determine if clinical variables were related to gait initiation parameters. tGI was predicted by age (p < 0.001) and weight (p = 0.005). The duration of APA1 was predicted by weight (p = 0.006) and APA2a by age (p < 0.001). Variability in duration of the locomotor phase (LOC) was predicted by age (p < 0.001). Conclusion: tGI and initial APA phases are longer in PD than in HC. There are no significant differences in variability of timing or displacement between the two groups. Gait initiation parameters are independent of disease duration, motor severity, medication usage or apathy in PD. Our findings suggest that cueing does not speed up gait initiation but reduces variability.

Left-sided hemihypomimia in Parkinson's disease.

Parkinson's disease is known to present and mostly persist as an asymmetrical movement disorder in most cases. The asymmetry is mainly described in motor features such as bradykinesia, rigidity and tremor in upper and lower limbs. Unilateral hypomimia however, has only been reported in 14 patients, all of whom showed right-sided hemihypomimia. In this case report we describe the symptoms of a 51-year-old man with predominant left-sided Parkinson's disease in whom we discovered a left-sided hemihypomimia. We also briefly review the literature concerning hemihypomimia in Parkinson's disease. We conclude that a larger case series needs to be studied to further elucidate the pathophysiology and clinical implications of this observation.

Neoplastic meningitis: a rare presentation of bronchial adenocarcinoma.

Following chronic daily headache, neoplastic meningitis was diagnosed in a non-smoking 44-year-old man. A bronchial adenocarcinoma was found to be the primary tumor. He was treated with erlotinib. Meningitis as the first manifestation of a malignancy is very rare.

Impulsive-Compulsive Behaviours in Belgian-Flemish Parkinson's Disease Patients: A Questionnaire-Based Study.

BACKGROUND: Impulsive-compulsive behaviours (ICB) are a potentially harmful group of behavioural symptoms among the nonmotor aspects of Parkinson's disease (PD). OBJECTIVE: To develop and perform partial validation of a Belgian-Flemish version of the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease (QUIP) as a screening instrument for ICB in PD patients. METHODS: Using a translation-backtranslation method, we developed a Belgian-Flemish version of the QUIP, which was subsequently completed by 88 PD patients. QUIP-positive patients were invited for a semistructured diagnostic interview. RESULTS: A positive QUIP score for one or more ICB was observed in 37 patients (41%). In 15 patients (17%), a positive QUIP score for one or more impulse control disorders (ICD) was noted: pathological gambling in 1, hypersexuality in 8, compulsive shopping in 5, and compulsive eating in 8 patients. A positive QUIP score for punding, hobbyism, and/or walkabout was observed in 30 patients. The semistructured diagnostic interview was performed in 22 QUIP-positive patients. The diagnosis of ICB was confirmed in 6 patients, suggesting a positive predictive value of 27% for the Belgian-Flemish version of the QUIP. CONCLUSIONS: We have developed a Belgian-Flemish version of the QUIP, which can be used as a screening questionnaire for ICB in PD patients. Our data suggest that sensitivity is high, specificity is low, and validity of the questionnaire is similar to the original version. We confirm the necessity of additional clinical assessment of QUIP-positive patients to ascertain a diagnosis of ICB.

Impulse control disorders in Parkinson's disease: an overview from neurobiology to treatment.

Parkinson's disease (PD) is the second most common neurodegenerative brain disorder and is characterized by motor symptoms such as tremor, bradykinesia, rigidity and postural instability. A majority of the patients also develop non-motor symptoms. Impulse control disorders (ICD) are behavioural changes that often fail to be detected in clinical practice. The prevalence of ICD in PD varies widely from 6.1 to 31.2 % and treatment with dopaminergic medication is considered to be the greatest risk factor. Management consists mainly of reducing dopaminergic medication. In our experience, ICD has a tremendous impact on the quality of life of the patients and their families and should therefore not be disregarded. Studies addressing the role of ICD in PD caregiver strain are imperative. We attempt to give a comprehensive overview of the literature on the complicated neurobiology of ICD and discuss risk factors, genetic susceptibility, screening modalities and management.