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Biomedical subjects

A J Larner

Publications and source records attributed to A J Larner.

At least 37 records · Page 2Linked to original sources
PubMed2005

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

It is now 10 years since the first report of mutations in the presenilin genes that were deterministic for familial autosomal dominant Alzheimer's disease. The most common of these mutations occurs in the presenilin-1 gene (PSEN1) located on chromosome 14. In the ensuing decade, more than 100 PSEN1 mutations have been described. The emphasis of these reports has largely been on the novelty of the mutations and their potential pathogenic consequences rather than detailed clinical, neuropsychological, neuroimaging and neuropathological accounts of patients with the mutation. 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.

Age of Onset↗
PubMed2005

Acupuncture use for the treatment of headache prior to neurological referral.

Acupuncture is a popular complementary treatment for various pain syndromes. Some studies claim efficacy in the treatment of primary headache syndromes. However, data on the frequency of acupuncture use by patients with headache prior to neurological referral have not been identified. 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.

Acupuncture Analgesia↗
PubMed2005

"Dementia unmasked": atypical, acute aphasic, presentations of neurodegenerative dementing disease.

Acute onset of aphasia is most commonly due to a cerebrovascular event in the territory of the dominant hemisphere middle cerebral artery. An isolated and slowly progressive aphasia may occasionally be the presenting feature of a dementia syndrome. The longitudinal clinical, neuropsychological and neuroimaging findings of two patients with an acute, perioperative, onset of aphasia are reported, to show that acute aphasia may on occasion be the presenting feature of neurodegenerative dementing disorders, notwithstanding clinical diagnostic exclusion criteria for these conditions.

Acute Disease↗
PubMed2005

Single-photon emission computed tomography perfusion imaging in the differential diagnosis of dementia: a retrospective regional audit.

A retrospective audit of (99m)Tc-HMPAO SPECT scans was undertaken to assess the utility of brain perfusion imaging in a cohort of young cognitively impaired patients in whom diagnostic uncertainty remained after standard clinical and neuropsychological assessment and structural brain imaging. SPECT scans were assessed by five raters (two neurologists and three nuclear medicine specialists) on two occasions 6 months apart, first without any clinical data and second with brief pertinent clinical information. SPECT diagnoses were compared with criterion diagnoses subsequently established by the two neurologists with access to all clinical, neuropsychological and neuroimaging data. Despite reasonable intra- and interrater reliability, diagnostic accuracy ranged from 32 to 58%. SPECT scan normality or abnormality in blind and informed viewings gave respective sensitivities of 77 and 71%, specificities of 44 and 38%, positive predictive values of 88 and 87% and negative predictive values of 27 and 18%. Calculating pairwise disease group comparisons, likelihood ratios suggested some diagnostic gain in differentiating AD from 'not AD' and from FTD/focal syndromes. SPECT scanning was of little help in establishing diagnoses in this cohort of patients, a finding which supports the conclusion of the American Academy of Neurology evidence-based review that SPECT imaging cannot be recommended for either the initial or the differential diagnosis of suspected dementia because it has not demonstrated superiority to clinical criteria.

Adult↗
PubMed2004

Disseminated enteropathy-type T-cell lymphoma: cauda equina syndrome complicating coeliac disease.

A patient with coeliac disease developed a progressive cauda equina syndrome in the 2 months prior to his death, for which no cause could be identified. At post-mortem examination this proved to be due to disseminated enteropathy-type T-cell lymphoma. Although rare, disseminated enteropathy-type T-cell lymphoma should enter the differential diagnosis in any patient with coeliac disease developing new neurological signs.

Cauda Equina↗
PubMed2004

Clinical-anatomical correlation in a selective phonemic speech production impairment.

Although phonemic paraphasias are common in aphasic disorders, including Broca's aphasia, conduction aphasia and transcortical motor aphasia, selective phonemic speech production impairment, or phonemic disintegration, is unusual. A patient with a selective phonemic speech production disorder underwent clinical, neuropsychological and structural neuroradiological assessment over a period of 6 years. The disorder was characterised by phonemic paraphasias (phonemic disintegration) with preserved comprehension and naming. Imaging showed a focal lesion in the white matter of the left precentral gyrus and, to a lesser extent, the posterior part of the left middle frontal gyrus, with overlying cortical atrophy. Biopsy of the lesion, after several years of observation, showed a calcified haemangioma. Clinical-anatomical correlation in this case suggests the importance of primary motor cortex of the inferior precentral (pre-Rolandic) gyrus and subjacent white matter in phoneme production, with sparing of the posterior inferior frontal gyrus (Broca's area).

Aphasia, Broca↗
PubMed2004

Ophthalmological observations made during the mid-19th-century European encounter with Africa.

European travelers in Africa in the mid-19th century encountered environments quite unlike those of their native lands. These provided many new and unanticipated health challenges. The ophthalmological consequences of exposure to such climates, as recorded incidentally in travelogues, are of potential interest. In this article, the almost contemporaneous narratives of 3 travelers with considerable medical training, David Livingstone and his sometime companion John Kirk, who journeyed in southern Africa, and Gustav Nachtigal, who traveled in northern Africa, are examined for information on ophthalmological problems, both observed and personally experienced. This affords an opportunity to compare observations made in Saharan and sub-Saharan Africa.

Africa↗
PubMed2004

Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation.

Two siblings with the R269G mutation in the presenilin-1 gene causing early-onset Alzheimer's disease are presented, only the second family with this mutation to be reported. Behavioural and psychiatric symptoms were prominent in both cases, as well as cognitive decline. Other reports of presenilin-1 gene mutations associated with behavioural and psychiatric symptoms are reviewed. The distribution of such mutations throughout the presenilin-1 gene argues against specific genotype-phenotype correlations, and suggests a role for other genetic and/or epigenetic factors in the pathogenesis of behavioural and psychiatric features in early-onset Alzheimer's disease associated with presenilin-1 gene mutations.

Alzheimer Disease↗
PubMed2004

What role do community pharmacists currently play in the management of headache? A hospital-based perspective.

Of one hundred consecutive patients with headache referred by general practitioners to general neurology outpatient clinics, only 15 had at any time consulted a community pharmacist for advice about headache or its treatment; none spontaneously volunteered this information. 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.

Adolescent↗
PubMed2004

Visual failure caused by vitamin B12 deficiency optic neuropathy.

Optic neuropathy is a rare but recognised complication of vitamin B12 deficiency, which may proceed to visual failure if not diagnosed early enough. Clues to the possible diagnosis include a history of, or risk factors for, pernicious anaemia, or previous resective gastrointestinal surgery.

Adult↗
PubMed2004

Getting it wrong: the clinical misdiagnosis of Alzheimer's disease.

Two patients whose diagnosis of Alzheimer's disease proved to be incorrect on follow-up are presented. Factors which contributed to the misdiagnosis included failure to obtain collateral history, failure to apply widely accepted diagnostic criteria, over-reliance on structural brain imaging and lack of longitudinal follow-up. Analysis of diagnostic errors may permit avoidance of similar pitfalls in future.

Aged↗
PubMed2004

EEG findings in dementia with Lewy bodies causing diagnostic confusion with sporadic Creutzfeldt-Jakob disease.

Two patients with pathologically confirmed dementia with Lewy bodies (DLB) had electroencephalogram recordings reported to show periodic discharges suggestive or typical of Creutzfeldt-Jakob disease. These findings caused diagnostic confusion and necessitated appropriate precautions for prion disease at postmortem examination. 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.

Aged↗