Paraneoplastic phenomenon in mesothelioma.

A 71-year-old man presented with breathlessness and visual disturbance. On examination of the chest, he had signs suggestive of a right-sided pleural effusion and a neurological examination yielded conjugate vertical gaze palsy. Subsequent investigations revealed pleural thickening and mesothelioma. His anti-Ma2 antibodies were positive indicating a paraneoplastic syndrome as the cause of the vertical gaze palsy.

Clinicopathological case: rapid cognitive decline and myoclonus associated with fever, arthropathy and scleritis.

A 65-year-old man presented with transient neurological symptoms, followed by rapid cognitive decline, myoclonus and fevers. He had evidence of scleritis and an arthropathy. This paper reports the clinicopathological conference discussed at the Association of British Neurologists Annual Meeting 2017.

Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease.

BACKGROUND: Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) owing to the tau intron 10 + 16 mutation usually occurs with a prototypical frontotemporal dementia phenotype with prominent disinhibition and affective disturbances. OBJECTIVE: To report a new FTDP-17 pedigree with the tau intron 10 + 16 mutation demonstrating a clinical phenotype suggestive of Alzheimer disease. DESIGN: Case reports. SETTING: Regional neuroscience centers in northwest England. Patients We examined 4 members of a kindred in which 8 individuals were affected in 3 generations. RESULTS: All 4 patients reported memory difficulty. Marked anomia was also present, but behavioral disturbances were conspicuously absent in the early stages of disease. All patients had an initial clinical diagnosis of Alzheimer disease. No mutations were found in the presenilin or amyloid precursor protein genes. Pathologic examination of the proband showed features typical of FTDP-17, and tau gene analysis showed the intron 10 + 16 mutation. CONCLUSIONS: This pedigree illustrates the phenotypic variability of tau intron 10 + 16 mutations. In pedigrees with a clinical diagnosis of Alzheimer disease but without presenilin or amyloid precursor protein gene mutations, tau gene mutations may be found.

Refractory effects in stroke aphasia: a consequence of poor semantic control.

This study examined the full range of effects associated with "semantic access impairment" - namely, refractory variables (semantic relatedness, speed of presentation and item repetition), inconsistency, the absence of frequency effects and facilitation by cues - in a series of stroke patients with multimodal semantically impairment. By investigating all of these factors in a group of patients who were not specifically selected to show "access" effects, we were able to establish (1) whether this pattern is a common consequence of infarcts that produce semantic impairment and (2) if these symptoms co-occur. All of the patients showed effects of cueing and an absence of frequency effects in comprehension. Patients whose brain damage included the left inferior prefrontal cortex (LIPC) also showed marked effects of refractory variables; in contrast, two patients with temporal-parietal but not frontal lesions were less sensitive to these variables. Parallel results were obtained for cyclical naming and word-picture matching tasks suggesting that the LIPC plays a role in semantic selection as well as lexical retrieval. Rapid presentation and item repetition is likely to have increased the selection demands in both of these tasks in a similar fashion. Unlike patients with classical "semantic access impairment", our semantically impaired stroke patients showed significant test-retest consistency, indicating that their difficulties did not result from an unpredictable failure of semantic access--instead, their deficits were interpreted as arising from failures of semantic control.

Cervical osteophytes: a cause of potentially life-threatening laryngeal spasms. Case report.

This 80-year-old woman presented with acute breathing difficulty during neck flexion when cyanosis also developed. The only potential causes were detected on cervical magnetic resonance imaging: two large anterior cervical osteophytes compressing the retropharyngeal space. Excision of these osteophytes resulted in resolution of the symptoms.

Paraneoplastic neurological syndromes: severe neurological symptoms resulting from relatively benign or occult tumours-two case reports.

Introduction. Paraneoplastic syndromes represent rare symptom complexes resulting from the ability of tumour cells to disrupt the homeostatic processes of various bodily systems. Here we present two cases to demonstrate how such tumours may evade detection even after extensive investigation and how even relatively benign tumours can produce severe neurological symptoms. Case 1. A 69-year-old female was admitted with a subacute onset of dysarthria, ataxia, and cerebellar signs. Workup revealed a relatively benign Non-Hodgkin's Lymphoma. Case 2. A 64-year-old female was admitted with acute leg weakness, which progressed to quadriplegia and was eventually fatal over the ensuing months. Her Ca-125 was elevated, though three different CT views of her pelvis and surgical exploration failed to demonstrate any malignancy. Discussion. These cases highlight how even relatively benign or very small tumours may result in severe neurological symptoms. Suspecting and investigating paraneoplastic syndromes (PNSs) are crucial as up to 80% of patients present with PNS before there is any other indication of malignancy. A PET scan and regular surveillance may reveal occult malignancies better than CT or MRI. Neuromodulatory therapies and treatment of the underlying malignancy remain the best management options in these patients.

Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.

It is now more than ten years since pathogenic mutations were first described in the gene encoding presenilin 1 (PSEN1) on chromosome 14. Although PSEN1 mutations are "deterministic" for Alzheimer's disease, they are associated with marked heterogeneity in the clinical expression of neurological features. We review recent publications on the clinical neurological phenotype of PSEN1 mutations, many of which now appear only in abstracts or brief communications, perhaps because PSEN1 mutations are no longer regarded as "novel". However, the clinical heterogeneity associated with these mutations prompts important questions about possible genetic and epigenetic factors which may modify disease phenotype. This area, which may also be relevant to neurodegenerative disorders resulting from other genetic mutations, such as those in the tau gene, currently remains ill-understood.

Internal Carotid Artery dissection presenting as Isolated Hypoglossal nerve palsy.

Internal carotid dissection most commonly presents as headache, focal neurological deficits or stroke. Rarely it can manifest itself by causing a palsy of the lower cranial nerves (IX, X, XI, XII). The reported incidence of isolated cranial nerve palsies is rare. We report a case of an internal carotid artery dissection manifesting as isolated XII (hypoglossal) cranial nerve palsy.

Susac syndrome in a patient with hepatitis C.

A 38-year-old woman seropositive for hepatitis C developed headache, sensorineural hearing loss, encephalopathy, and retinal arteriolar occlusions. Brain MRI showed signal abnormalities in the basal ganglia and corpus callosum. These features are consistent with Susac syndrome, a multifocal central nervous system disorder of uncertain etiology. This is the first reported case of Susac syndrome in a patient with hepatitis C.

Intellectual, mnemonic, and frontal functions in dementia with Lewy bodies: A comparison with early and advanced Parkinson's disease.

Both Parkinson's disease (PD) and dementia with Lewy bodies (DLB) share a common neuropathological marker, the presence of Lewy bodies in brain stem and basal forebrain nuclei. DLB, in addition, is associated with Lewy bodies in the neocortex, and, in it's more common form, with Alzheimer-type pathological markers, particularly amyloid plaques. Published neuropsychological studies have focused on the differential profiles of DLB and Alzheimer's disease (AD). However, it is presently unclear whether DLB should be classified as a variant of AD or PD. In the present study we compare a healthy age-matched control group with three groups of patients, one with DLB, and two with PD. One of the PD groups was early in the course (PD-E) and the second, more advanced group (PD-A), was matched on severity of cognitive impairment with the DLB group. The results show that DLB was associated with a different pattern of neuropsychological impairment than the PD-A group, particularly in tests believed to be mediated by prefrontal cortical regions.