Andrew J Larner

..The completeness of the clinical description merits the eponymous description of Leeuwenhoek's disease...

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..Its item content addresses some of the acknowledged shortcomings of the MMSE. Pragmatic use of MMP in general cognitive clinics has not previously been examined...

..The mechanisms underpinning this heterogeneity, as seen with other GRN mutations, are currently unknown. Since all GRN mutations lead to progranulin haploinsufficiency, other modifying factors, possibly genetic, are implicated...

..As Lawson is likely to be an unfamiliar name to most neurologists, and does not appear in the Oxford Dictionary of National Biography, we offer this brief account of his life and work...

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..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...

..It is suggested that closer liaison between neurologists and psychiatrists with an interest in learning disability might improve the management of neurological problems in patients with Down syndrome...

..These syndromes may be alarming not only to patients but also to medical practitioners unfamiliar with them, initiating inappropriate investigations or advice...

..This may be one of the earliest accounts by a patient, rather than a physician, of cluster headache...

..This study measured diagnostic accuracy of ACE in a large cohort of consecutive patients referred to a dedicated Cognitive Function Clinic...

..Although the etiology of this dysarthria is multifactorial, disorders of respiration may strongly contribute to it. The aim of this study was to evaluate the effects of levodopa on measures of respiration and intelligibility...

..All such patients are probably best referred to specialist clinics where expertise in diagnosis, genetic counselling and testing, and management has been developed...

..Late-onset AD may be associated with deterministic PS1 mutations; these should be sought when the family history suggests autosomal dominant disease transmission...

..The molecular species responsible for neuroinhibitory effects in the Alzheimer's disease brain are beginning to be elucidated...

..Although rare, TGA is a diagnosis both hospital physicians and general practitioners need to be aware of in order to avoid potential pitfalls. The critical importance of collateral history in reaching the diagnosis is emphasised...

..The details come to us through the physician John Finch, the scientist Robert Boyle, and the author Jonathan Swift. The details in the account suggest the possibility that this may be an early report of colored-touch synaesthesia...

..As these genes prove to be negative in patients with a clinical diagnosis of early-onset familial Alzheimer disease, a search for tau gene mutations may be appropriate, as illustrated by the following case...

..Teleneurology will increasingly impact on all neurologists...

..It is possible that camptodactyly is a heterogeneous disorder. Further studies are required to ascertain whether this is the case, and to probe further the inheritance and pathogenesis of the disorder...

..Nevertheless, PSEN1 AD should now be recognized, using the new International League Against Epilepsy nomenclature, as a genetic epilepsy syndrome...

..The authors suggest a pragmatic approach to developing the evidence base in order to inform decisions on seizure treatment, based on prior pragmatic studies in epilepsy...

..Clinical practice with respect to non-Alzheimer’s disease indications for ChEIs may vary according to jurisdiction, specifically with regards to whether national guidelines effectively limit off-licence drug use...

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..They also give some insights into the consequences of epilepsy for a creative writer...

..Nonetheless, as illustrated by the following case report, acute onset of demyelinating disease with the clinical phenotype of amnesia may on occasion be the presenting feature of MS...

..Possible explanations for the intra- and interfamilial clinical heterogeneity associated with this MAPT mutation are discussed...

..In summary, epileptic seizures are part of the AD phenotype, and merit further investigation...

..These findings indicate a steady growth in awareness and use of NHS Direct, yet large numbers of patients reaching secondary care have not utilized this primary care resource...

..As ever, history taking is key to the diagnosis. Attention to the possibility of analgesic medication overuse is particularly pertinent, but other treatable conditions such as depression and epilepsy must not be overlooked...

..A patient with delusion of pregnancy as an early feature of FTLD/MND is presented to illustrate the need to consider neurodegenerative disease as well as primary psychiatric disorder as the underlying cause of this striking symptom...

..Increased awareness of this diagnostic category is required to ensure effective deployment of effective, evidence-based treatments...

..Data on health-information-seeking behaviour through Internet searching are relevant not only to clinical consultation, but also to the possibilities of targeting health-related information and to email consultation...

..It is suggested that non-invasive angiography is not routinely indicated in late presentations of headache associated with sexual activity...

..This article reviews the clinical phenotypes of reported PSEN1 mutations, emphasizing their heterogeneity, and suggesting that other factors, both genetic and epigenetic,must contribute to disease phenotype...

..He also undertook experimental work and published extensively, including the first book devoted to angina...

..This clinical and pathological heterogeneity in patients with the same PSEN-1 mutation suggests phenotype modulation by genetic and/or epigenetic factors...

..The proposed usage would also emphasise differential diagnosis...

..Analysis of diagnostic errors may permit avoidance of similar pitfalls in future...

..Clues to the possible diagnosis include a history of, or risk factors for, pernicious anaemia, or previous resective gastrointestinal surgery...

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..This affords an opportunity to compare observations made in Saharan and sub-Saharan Africa...

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..In this study, 12% of patients with headache attending general neurology outpatient clinics had already received acupuncture; of the remainder, 73% said they would be willing to try it...

..Endocrinologists treating patients with prolactinoma need to be aware of this syndrome as its pathophysiology and treatment differ from that of other headache syndromes...

..The practice of uvulectomy in indigenous African societies and some contemporary ideas about uvulectomy are also considered in order to try to ascertain why Livingstone elected to undergo this procedure...

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..As an authorial device, headache may have served Jane Austen as a culturally sanctioned form of bodily expression...

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..Community pharmacists may represent an underused resource in the management of headaches in primary care, but would require specific training to fulfil such a role...

..A comparison was made between patients' searches and their final diagnosis. Patients' views on the use of the information received were sought...

..The pathogenesis of this unusual neurological and ophthalmological syndrome therefore remains uncertain...

..This article reports the cognitive impairments associated with left fornix damage which became apparent following surgical removal of a solitary subependymal giant cell astrocytoma...

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..To determine whether cases of frontotemporal lobar degeneration (FTLD) do exist in elderly individuals and have clinical and neuropathological features distinct from those with presenile onset...

..Camptodactyly is not infrequently observed in the general neurology outpatient clinic. It merits attention in order to avoid confusion with other, neurogenic, causes of clawing, and so avoid unnecessary investigation...

..CONCLUSION: Although epileptic seizures are more common later in the course of AD, nonetheless they may accompany the onset of, and be symptomatic of, the disease, perhaps reflecting a shared pathogenesis...

..A character from one of Charles Dickens's lesser known works is presented, whose attributes suggest a possible diagnosis of progressive supranuclear palsy...

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..We undertook a systematic review of the evidence, which supports this association, and consider possible shared pathogenic mechanisms and the implications for current clinical practice...

..Awareness that signs may be false localising has implications for diagnostic investigation...

..Two cases in which the diagnosis was initially overlooked are presented, emphasising that the paraesthesia associated with vitamin B12 deficiency may be central (myelopathic) or peripheral (neuropathic) in origin...

..This article gives a broad overview of the spectrum of targets for AD treatment, with particular emphasis on amyloid beta-peptides and tau protein...

..Since OSAS is associated with increased morbidity and mortality, yet is frequently amenable to treatment, neurologists should be familiar with the heterogeneous presentations of this condition...

..Periodic sharp wave complexes have occasionally been reported in DLB and should not therefore dissuade one from the diagnosis when other clinical and neuropsychological features are consistent with validated diagnostic criteria...

..The effectiveness of a combination immunomodulatory regimen was tested in consecutive VGKC+LE patients...

..Although rare, disseminated enteropathy-type T-cell lymphoma should enter the differential diagnosis in any patient with coeliac disease developing new neurological signs...

..Although influenza vaccination is recommended in patients receiving chronic immunosuppression, its use may on occasion be associated with neurological complications previously reported in immunocompetent individuals...

..The results suggest that headache guidelines are seldom, if ever, applied in this geographical location...

..The role of thyroid dysfunction in the aetiology of headache remains uncertain...