Management approach including pembrolizumab for fingolimod-associated progressive multifocal leukoencephalopathy in a patient with relapsing-remitting multiple sclerosis.

A 62-year-old man with relapsing-remitting multiple sclerosis developed progressive multifocal leukencephalopathy (PML) after 6 years on fingolimod. The fingolimod was immediately discontinued and preexisting mirtazepine increased. Three weeks later, with brain magnetic resonance imaging (MRI) appearances worsening and cerebrospinal fluid (CSF) JC virus (JCV) titres increasing, maraviroc was introduced.

Facial Onset Sensory and Motor Neuronopathy: New Cases, Cognitive Changes, and Pathophysiology.

Purpose Of Review: To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN).

Recent Findings: We identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN. During follow-up, cognitive and behavioral changes became apparent in 8 patients, suggesting that changes within the spectrum of frontotemporal dementia (FTD) are a part of the natural history of FOSMN.

Systemic delivery of human GlyR IgG antibody induces GlyR internalization into motor neurons of brainstem and spinal cord with motor dysfunction in mice.

Aims: Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a life-threatening condition often associated with highly raised serum antibodies to glycine receptors (GlyRs); these bind to the surface of large neurons and interneurons in rodent brain and spinal cord sections and, in vitro, inhibit function and reduce surface expression of the GlyRs. The effects in vivo have not been reported.

Methods: Purified plasma IgG from a GlyR antibody-positive patient with PERM, and a healthy control (HC), was injected daily into the peritoneal cavity of mice for 12 days; lipopolysaccharide (LPS) to open the blood-brain barrier, was injected on days 3 and 8.

Symptom dimensions in people affected by long-term neurological conditions: a factor analysis of a patient-centred palliative care outcome symptom scale.

Long-term neurological conditions (LTNCs) often cause debilitating symptoms. Better understanding of symptom dimensions in LTNCs is needed to support health professionals and improve care. This can be achieved by exploring the factor structure of a standardised measure of symptoms in LTNC patients.

Emerging Magnetic Resonance Imaging Techniques and Analysis Methods in Amyotrophic Lateral Sclerosis.

Objective markers of disease sensitive to the clinical activity, symptomatic progression, and underlying substrates of neurodegeneration are highly coveted in amyotrophic lateral sclerosis in order to more eloquently stratify the highly heterogeneous phenotype and facilitate the discovery of effective disease modifying treatments for patients. Magnetic resonance imaging (MRI) is a promising, non-invasive biomarker candidate whose acquisition techniques and analysis methods are undergoing constant evolution in the pursuit of parameters which more closely represent biologically-applicable tissue changes. Neurite Orientation Dispersion and Density Imaging (NODDI; a form of diffusion imaging), and quantitative Magnetization Transfer Imaging (qMTi) are two such emerging modalities which have each broadened the understanding of other neurological disorders and have the potential to provide new insights into structural alterations initiated by the disease process in ALS.

Evaluating the causality of novel sequence variants in the prion protein gene by example.

The estimation of pathogenicity and penetrance of novel prion protein gene (PRNP) variants presents significant challenges, particularly in the absence of family history, which precludes the application of Mendelian segregation. Moreover, the ambiguities of prion disease pathophysiology renders conventional in silico predictions inconclusive. Here, we describe 2 patients with rapid cognitive decline progressing to akinetic mutism and death within 10 weeks of symptom onset, both of whom possessed the novel T201S variant in PRNP.

Neurosyphilis in patients with HIV.

Syphilis is a resurgent sexually transmitted infection in the UK that is disproportionately diagnosed in patients living with HIV, particularly in men who have sex with men. Syphilis appears to present differently in patients with HIV, particularly in those with severe immunosuppression. Progression to neurosyphilis is more common in HIV coinfection and can be asymptomatic, often for several years.

Neuropsychological outcome of a case of Susac syndrome: A two-year follow-up study.

Susac syndrome is a rare condition characterised by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. Of the few published cases, there is variability with regard to cognitive outcome. We describe the clinical course and neuropsychological performance of a 21-year-old male patient presenting with severe encephalopathy and later developing the full triad fulfilling the diagnosis of Susac syndrome.

Predictors of survival in progressive supranuclear palsy and multiple system atrophy: a systematic review and meta-analysis.

Objective: To undertake a systematic review and meta-analysis of studies that investigated prognostic factors and survival in patients with progressive supranuclear palsy (PSP) and multiple system atrophy (MSA).

Methods: Publications of at least 10 patients with a likely or confirmed diagnosis of PSP or MSA were eligible for inclusion. Methodological quality was rated using a modified version of the Quality in Prognostic Studies tool.

Here, there and everywhere: higher visual function and the dorsal visual stream.

The dorsal visual stream, often referred to as the 'where' stream, represents the pathway taken by visual information from the primary visual cortex to the posterior parietal lobe and onwards. It partners the ventral or 'what' stream, the subject of a previous review and largely a temporal-based system. Here, we consider the dorsal stream disorders of perception (simultanagnosia, akinetopsia) along with their consequences on action (eg, optic ataxia and oculomotor apraxia, along with Balint's syndrome).

"Brain on fire": a new imaging sign.

Primary central nervous system (CNS) marginal zone B cell lymphoma is a rare condition. It has an indolent disease course and usually presents as a dural-based lesion. We present a patient with non-dural-based, primary CNS marginal zone B cell lymphoma with an unusual imaging appearance, not previously described to our knowledge.

Malignant transformation of acoustic neuroma/vestibular schwannoma 10 years after gamma knife stereotactic radiosurgery.

Only a handful of cases of de-novo malignancies of the vestibulocochlear nerve have been reported. Even rarer is the malignant transformation of a previously histologically diagnosed benign vestibular schwannoma. We present the case of a young adult who had combined operative/Gamma knife treatment for a benign vestibular schwannoma, followed by further surgery 2 years later.

An unusual case of recurrent pneumonia.

A gentleman, aged 54, with shunted hydrocephalus presented with recurrent chest infections. He had a ventriculoperitoneal (VP) shunt inserted when he was 38 years old for obstructive hydrocephalus due to a cerebellar tumour, with no subsequent shunt revisions since. Over a 2-year period, he presented with three episodes of pneumonia, which, on each occasion, responded well to antibiotics but then subsequently recurred.

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

The limb-girdle muscular dystrophies are a group of disorders with wide genetic and clinical heterogeneity. Recently, mutations in the ANO5 gene, which encodes a putative calcium-activated chloride channel belonging to the Anoctamin family of proteins, were identified in five families with one of two previously identified disorders, limb-girdle muscular dystrophy 2L and non-dysferlin Miyoshi muscular dystrophy. We screened a candidate group of 64 patients from 59 British and German kindreds and found the truncating mutation, c.

Isolated subacute tuberculous spinal epidural abscess of the cervical spine: a brief report of a special case.

A tuberculous spinal epidural abscess is seen rarely as a late complication of Pott's disease or in immunocompromised patients. Such abscesses in isolation are rare indeed and very uncommon in the developed and developing world. We report a patient with an isolated subacute tuberculous spinal epidural abscess without disc or vertebral involvement and no primary focus or risk factors associated with the development of spinal tuberculosis.

Neuropsychological profiling of ischemic deficit secondary to ruptured dermoid cyst: a case report.

This report presents a case of a 39-year-old male with a spontaneously ruptured frontotemporal dermoid cyst. Intraoperatively, during surgical resection of the cyst, significant fat spillage occurred associated with a profound anterior circulation vasospasm. The patient underwent serial neuropsychological evaluation over five months, revealing a profile of initial deterioration, followed by delayed recovery of cognitive function.

Penetrating civilian craniocerebral gunshot wounds: a protocol of delayed surgery.

Objective: Several factors have led to our unique approach of delayed definitive débridement. We wanted to evaluate the effectiveness of our management and compare it with the existing data in the literature.

Methods: We retrospectively reviewed the records of 194 patients presenting between January 1996 and October 2003 with penetrating craniocerebral gunshot wounds.

Oedipism: Auto-enucleation in a schizophrenic patient.

We report the rare occurrence of subarachnoid haemorrhage secondary to probable auto-enucleation of the orbit (oedipism) and we document management of these co-incident pathologies in a schizophrenic patient. A 67 year old schizophrenic woman suffered a subarachnoid haemorrhage and presented with seizures following enucleation of her right eye. Initial efforts should focus on investigation and management of the subarachnoid haemorrhage.

Angiography postclipping and coiling of cerebral aneurysms.

Postclipping cerebral angiography is generally not practised in the UK. The International Subarachnoid Trial (ISAT) data show that coiling compared favourably with clipping in the early posttreatment phase. We present a 4-year, single unit experience comparing cerebral angiography at 6 months postclipping and postcoiling, defining the proportion of aneurysms in either group, which were incompletely excluded from the cerebral circulation after treatment.

Does posterior fossa decompression improve oculomotor and vestibulo-ocular manifestations in Chiari 1 malformation?

Background: Oculomotor and vestibulo-ocular manifestations are associated with Chiari 1 malformation. Reports of the results of decompression of CM1 in resolution of these manifestations are limited.

Methods: A retrospective review of case notes were undertaken from Jan 1998 to March 2003 of all the cases undergoing posterior fossa decompressions by the senior author.

Penetrating civilian craniocerebral gunshot wounds: a protocol of delayed surgery.

Objective: Several factors have led to our unique approach of delayed definitive débridement. We wanted to evaluate the effectiveness of our management and compare it with the existing data in the literature.

Methods: We retrospectively reviewed the records of 194 patients presenting between January 1996 and October 2003 with penetrating craniocerebral gunshot wounds.