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Biomedical subjects

L Cipolotti

Publications and source records attributed to L Cipolotti.

At least 19 recordsLinked to original sources
PubMed2006

Auditory temporal processing deficits in patients with insular stroke.

OBJECTIVE: To assess central auditory function in a series of patients with stroke of the insula and adjacent areas. METHODS: The authors recruited eight patients with stroke affecting the insula and adjacent areas and eight neurologically normal controls (matched to the patients for age, sex, handedness, and hearing thresholds). The lesion spared the adjacent auditory areas in three patients and included other auditory structures in five cases. The authors conducted pure-tone audiometry and tympanometry and a central auditory test battery, which included the dichotic digits, and three temporal tests, the duration pattern, frequency pattern, and gaps in noise tests. They collected information from the hospital notes on symptoms at presentation and neuropsychological assessment data during the acute phase. RESULTS: The central auditory tests gave normal results in all controls. The temporal tests gave abnormal results in all three cases in which other auditory areas were spared, as well as in the other five cases. Results of the gaps in noise test were abnormal contralaterally to the lesion in three and bilaterally in five cases. The central auditory deficits did not cosegregate with the presence of cognitive impairment during the acute stage. CONCLUSION: Insular lesions may affect central auditory function and, in particular, temporal resolution and sequencing, consistent with neuroimaging studies.

Adult↗
PubMed2006

MRS shows abnormalities before symptoms in familial Alzheimer disease.

BACKGROUND: Pathologic change in Alzheimer disease (AD) begins some years before symptoms. MRS has the potential to detect metabolic abnormalities reflecting this early pathologic change. Presenilin 1 (PS1) and amyloid precursor protein (APP) mutation carriers have a nearly 100% risk of developing AD and may be studied prior to symptom onset. METHODS: Short echo time proton MR spectra were acquired from a midline posterior cingulate voxel in presymptomatic carriers of PS1 or APP mutations ("presymptomatic mutation carriers" [PMCs]; n = 7) and age- and sex-matched control subjects (n = 6). Ratios of N-acetyl aspartate (NAA), myo-inositol (MI), and choline-containing compounds (Cho) to creatine (Cr) were measured and NAA/MI calculated. Regression analyses and t tests were performed after log transformation. RESULTS: PMC and control subjects were matched for age and sex. PMC subjects were 1.7 to 21.6 years (mean 9.8 years) before expected symptom onset, predicted from family-specific mean age at onset. Age did not significantly affect metabolite ratios. Geometric mean ratios in control subjects were as follows: NAA/Cr = 1.75, MI/Cr = 0.59, and NAA/MI = 2.95. NAA/Cr and NAA/MI were significantly reduced in PMC relative to controls (NAA/Cr mean decrease 10% [95% CI 2 to 18%]; NAA/MI mean decrease 25% [95% CI 3 to 44%]). MI/Cr was increased in PMC, but the differences did not achieve significance (19% increase [95% CI 1% decrease to 41% increase]; p = 0.07)). In PMCs, reduction in NAA/MI (p = 0.001) and MI/Cr (p = 0.002) were related to proximity of expected age at onset. CONCLUSIONS: Metabolic changes are detectable in presymptomatic mutation carriers years before expected onset of Alzheimer disease. Their magnitude is related to proximity of expected age at onset.

Adolescent↗
PubMed2006

Structural brain correlates of IQ changes in bipolar disorder.

BACKGROUND: There is increasing evidence that cognitive deficits are present in bipolar disorder (BP), but their neural correlates have not been fully explored. The aim of this study is to correlate structural brain abnormalities with cognitive performance in BP and to explore differences between clinical subtypes. METHOD: Thirty-six BP patients (13 men, 23 women) with a mean age of 39 years (range 21-63 years) underwent neuropsychological testing and imaging. Twenty-five patients had bipolar disorder I (BP I) and 11 had bipolar disorder II (BP II). Patients with co-morbid psychiatric diagnosis, drug and alcohol abuse or systemic illness were excluded. Correlations between cognitive performance and structural brain changes were explored using high-resolution anatomical imaging and magnetization transfer imaging (MTI). RESULTS: In the whole BP group the difference between estimated pre-morbid IQ and current IQ was significantly correlated with left-sided reduction of the magnetization transfer ratio (MTR) in the superior temporal gyrus, uncus and para-hippocampal gyrus. In BP II patients the areas where these correlations were significant extended to the right superior and middle temporal gyri, cingulate gyrus, pre-cuneus and adjacent frontal and parietal white matter. The volume of superior temporal white matter was also correlated with IQ difference in this subgroup. CONCLUSIONS: The study highlights the association between fronto-temporal abnormalities and decline in IQ in BP. The more extensive abnormalities present in BP II patients suggest that persistent depression, rather than mania, may be a key pathophysiological factor or that BP II represents a clinical phenotype with a higher risk of developing cognitive abnormalities.

Adult↗
PubMed2005

Cognitive and social impairments in patients with superficial siderosis.

Superficial siderosis of the CNS is a rare condition, caused by deposition of haemosiderin in the superficial layers of the CNS due to repeated chronic subarachnoid or intraventricular haemorrhage. Typically, the hindbrain structures, especially the cerebellum, are most affected. There is a surprising lack of studies investigating in detail the behavioural functioning of patients with such a condition. In this study, we document for the first time the cognitive, social and emotional processing of six patients with a confirmed clinical diagnosis of superficial siderosis. They were aged between 40 and 62 years, with a mean age of 50.2 years; four were male. We administered a comprehensive battery of general cognitive ability and social cognitive tasks. A review of MRI was also undertaken. The findings indicate selective cognitive impairments affecting speech production, visual recall memory and executive functions. In addition, a selective pattern of social dysfunction, affecting the ability to represent other people's mental states, was found. These behavioural dysfunctions are reported in the context of MRI-documented lesions maximally involving the cerebellum, in particular the superior vermis, as well as the medial and inferior frontal cortex. These results suggest that superficial siderosis is associated with a distinct pattern of cognitive and social impairments. They are consistent with the recently proposed role of the cerebellum as a modulator of cognitive, social and emotional functions.

Adult↗
PubMed2005

Memory function after resolution of post-traumatic amnesia.

PRIMARY OBJECTIVES: The aims of this pilot study were (1) to examine neuropsychological, particularly memory functions immediately after post-traumatic amnesia (PTA) resolution according to the Galveston Orientation and Amnesia Test (GOAT), and (2) to provide a preliminary exploration of pattern of performance on GOAT items across PTA duration. METHODS AND PROCEDURES: Thirty-seven head injured patients were administered the Recognition Memory Tests on the day that PTA resolved. Formal neuropsychological assessment was conducted on average 10 days after PTA resolution. MAIN OUTCOMES AND RESULTS: All the patients in the series showed memory impairment which varied in severity but was typically characterized as global and severe. Deficits in executive and speed and attention functions were common. GOAT items relating to orientation were typically passed, while items concerning anterograde and retrograde recall were most commonly failed across all stages of PTA duration. CONCLUSIONS: These findings suggest that reliance on memory performance as a measure of PTA is not ideal and highlight the need for further research of this issue.

Adult↗
PubMed2005

A decade of pre-diagnostic assessment in a case of familial Alzheimer's disease: tracking progression from asymptomatic to MCI and dementia.

Detailed study of the very earliest phases of Alzheimer's disease (AD) is seldom possible, especially those changes preceding the development of mild cognitive impairment (MCI), which may occur years before diagnosis. Knowledge of imaging and neuropsychological features of these early stages would add insight into this poorly understood phase of the disease. We present data from a subject who entered a longitudinal study of individuals at risk of familial Alzheimer's disease (FAD), as a healthy volunteer with no memory complaints, undergoing 12 assessments between 1992 and 2003. Longitudinal MRI, neuropsychological and clinical data are presented over the decade preceding this man's diagnosis, through the asymptomatic and prodromal preludes to his presentation with MCI and on to eventual conversion to AD.

Activities of Daily Living↗
PubMed2005

Knight's move thinking? Mild cognitive impairment in a chess player.

We report the case of a chess player with superior premorbid cognitive function who presented to the Cognitive Disorders clinic at the National Hospital for Neurology and Neurosurgery with a 2-year history of symptoms of possible memory loss. Initially the MRI scan appearance was within normal limits and his cognitive scores inside the normal range; subsequently his cognitive function deteriorated and he fulfilled criteria for Mild Cognitive Impairment (MCI) two years later. Unexpectedly he died of an unrelated illness seven months later and post mortem examination of the brain was carried out, revealing advanced Alzheimer's disease (CERAD definite and NIA-Regan Institute high likelihood). This case highlights the difficulties encountered in assessing patients with superior premorbid function in the early stages of Alzheimer's disease, and reveals the value of serial MRI and neuropsychological assessment in detecting and monitoring early neurodegenerative disease.

Aged↗
PubMed2005

The neuropsychology of variant CJD: a comparative study with inherited and sporadic forms of prion disease.

OBJECTIVE: To assess cognitive function in variant Creutzfeldt-Jakob disease (vCJD). We describe the neuropsychological profiles of 10 cases and compare these data with cross sectional data obtained from patients with histologically confirmed sporadic CJD and cases with inherited prion disease with confirmed mutations in the prion protein gene. METHODS: Patients referred to the Specialist Cognitive Disorders Clinic at the National Hospital for Neurology and Neurosurgery and the National Prion Clinic at St Mary's Hospital, London for further investigation of suspected CJD were recruited into the study. The neuropsychological test battery evaluated general intelligence, visual and verbal memory, nominal skills, literacy skills, visual perception and visuospatial functions, and visuospatial and executive function. RESULTS: The results indicate that moderate to severe cognitive decline is a characteristic feature of vCJD. Specifically, verbal and visual memory impairments and executive dysfunction were pervasive in all disease groups. Nominal skills were impaired in variant and sporadic CJD, significantly so when compared with the inherited prion disease group. Perceptual impairment was less frequent in the vCJD group than in the sporadic and inherited groups. CONCLUSION: This study confirms the occurrence of generalised cognitive decline in patients with vCJD. Although decline in cognitive function ultimately affects all domains, there is a suggestion that some components of visual perception may be spared in vCJD. The results also suggest that nominal function may be preserved in some cases with inherited prion disease.

Adult↗
PubMed2005

Mapping the onset and progression of atrophy in familial frontotemporal lobar degeneration.

BACKGROUND: Frontotemporal lobar degeneration (FTLD) may be inherited as an autosomal dominant disease. Studying patients "at risk" for developing FTLD can provide insights into the earliest onset and evolution of the disease. METHOD: We carried out approximately annual clinical, MRI, and neuropsychological assessments on an asymptomatic 51 year old "at risk" family member from a family with FTLD associated with ubiquitin-positive and tau-negative inclusion bodies. We used non-linear (fluid) registration of serial MRI to determine areas undergoing significant regional atrophy at different stages of the disease. RESULTS: Over the first 26 months of the study, the patient remained asymptomatic, but subsequently developed progressive speech production difficulties, and latterly severe orofacial dyspraxia, dyscalculia, frontal executive impairment, and limb dyspraxia. Regional atrophy was present prior to the onset of symptoms, and was initially centred on the left dorsolateral prefrontal cortex and the left middle frontal gyrus. Latterly, there was increasing asymmetric left frontal and parietal atrophy. Imaging revealed excess and increasing global atrophy throughout the study. Neuropsychological evaluation revealed mild intellectual impairment prior to the onset of these clinical symptoms; frontal executive and left parietal impairment subsequently emerged, culminating in widespread cognitive impairment. Fluid registered MRI allowed the emerging atrophy patterns to be delineated. CONCLUSION: We have demonstrated the onset and progressive pattern of in vivo atrophy in familial FTLD using fluid registered MRI and correlated this with the clinical features. Fluid registered MRI may be a useful technique in assessing patterns of focal atrophy in vivo and demonstrating the progression of degenerative diseases.

Atrophy↗
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

Social and motivational functioning is not critically dependent on feedback of autonomic responses: neuropsychological evidence from patients with pure autonomic failure.

Social, emotional and motivational behaviours are associated with production of automatic bodily responses. Re-representation in the brain through feedback of autonomic and skeletomuscular arousal is proposed to underlie "feeling states". These influence emotional judgments and bias motivational decision-making and guide social interactions. Consistent with this hypothesis, dissocial behaviour and deficits on emotional and motivation tasks are associated with blunted bodily responses in patients with orbitofrontal brain lesions or developmental psychopathy. To determine the critical dependence of social and emotional behaviours on bodily responses mediated by the autonomic nervous system, we examined patients with pure autonomic failure (PAF), a peripheral denervation of autonomic neurons with onset in middle age. Compared to healthy subjects, PAF patients were unimpaired on tests of motivational decision-making (Iowa Gambling Task), recognition of emotional facial expressions, Theory of Mind Tasks and tests of social cognition. Only on a test of emotional attribution, which is perhaps more sensitive to subjective feeling states, did PAF patients score worse than the comparison group, though there was no evidence that this deficit was specific to a discrete emotion and requires further validation. These findings suggest that emotional and social functioning is not critically tied to on-going experience of autonomic arousal state, Acquisition of autonomic failure late in life may protect against maladaptive social behaviour through established behavioural responses that may be associated with central "as if" representations.

Aged↗
PubMed2004

The impact of deep dysgraphia on graphemic buffer disorders.

This article describes an investigation into the residual writing skills of a severely dysgraphic patient (DA). We found that they were powerfully influenced by a number of lexical variables (lexicality, frequency, imageability, length and geminates). His error pattern was characterized by semantic, lexical, substitution, deletion errors and fragment responses that preserved the first letter. Thus, DA's written spelling was characterized by both deep dysgraphic and graphemic output buffer effects. It is proposed that this pattern of performance represents a new"putative functional syndrome."

Agraphia↗
PubMed2003

A combined neuropsychological and neuroimaging study of topographical and non-verbal memory in semantic dementia.

A combined neuropsychological and neuroimaging investigation was carried out on a patient (O.I.) with semantic dementia who had asymmetrical temporal lobe atrophy, greater on the left. His performance on tests of verbal memory was gravely impaired. Similarly, his visual memory as indexed by recognition of unfamiliar faces was impaired. By contrast, his recognition memory for topographical memoranda (e.g. buildings, landscapes) and ability to find his way around was preserved. In order to identify the neural substrates supporting the preserved recognition of static topographical memoranda, O.I. was scanned using positron emission tomography (PET) during the encoding and recognition of building and landscape stimuli. In common with control subjects, during encoding O.I. activated parahippocampal cortex bilaterally, along with bilateral temporo-parietal, retrosplenial and left frontal cortices. During recognition, both patient and controls activated right parahippocampal, right superior parietal and right frontal cortices. Notably, control subjects, but not O.I., also activated at encoding the precuneus and at recognition the retrosplenial cortex. This allows the conclusion that these two areas while involved may not be necessary for topographical memory. Interestingly, the patient also activated regions that were not evident in control subjects both during encoding and recognition. These additional areas of activation may be necessary in a compensatory role. Overall, these data represent the first reported assessment of the functional integrity of degenerating brain tissue and its contribution to preserved topographical memory. The combination of the neuropsychological and neuroimaging approaches may provide insights into the functional-anatomy of memory while having clinical utility for the assessment of residual brain tissue.

Aged↗
PubMed2003

To play 'B' but not to say 'B': selective loss of letter names.

This paper is the first report of an aphasic patient (GT) who shows a selective impairment in naming musical notes and letters in the context of preserved instrumental reading of notes. The ability to orally name notes (which are given the letter names A-G in English) and to play notes from a spoken note name was severely impaired. By contrast, instrumental sightreading and matching of written letters and single notes were both well preserved. This complex pattern of impairments can be explained in terms of a selective deficit in the letter name system.

Adult↗
PubMed2003

Early cognitive decline in Creutzfeldt-Jakob disease associated with human growth hormone treatment.

BACKGROUND: Most cases of Creutzfeldt-Jakob disease (CJD) in recipients of human cadaveric growth hormone present with a cerebellar syndrome. Dementia is thought to occur late and as a minor feature of the illness. However, neuropsychology data published on these cases are largely qualitative and anecdotal. The first published case does include a neuropsychological assessment seven months after the onset of a cerebellar syndrome, showing evidence of intellectual decline. Subsequent reports hint that cognitive problems may be present in the initial stages of the illness. OBJECTIVE: To assess early cognition in Creutzfeldt-Jakob disease in recipients of pituitary derived human growth hormone. METHODS: Detailed neuropsychology assessment is reported at referral (mean 4.5 months from the onset of symptoms; range 4 to 6 months) in five patients with histologically proven human growth hormone derived CJD. RESULTS: All cases presented with a cerebellar syndrome and only one had noticed mild memory problems. On formal testing, however, four had demonstrable mild intellectual decline, as measured on the WAIS-R. One case showed selective visual memory impairment and frontal executive dysfunction. CONCLUSIONS: These findings suggest that, although not the presenting feature, mild cognitive decline may be evident in the early stages of CJD associated with human cadaveric growth hormone treatment.

Adult↗
PubMed2002

Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation.

OBJECTIVE: To describe the clinical features of nine British families with neuropathologically verified frontotemporal dementia (FTD) due to the intronic tau exon 10(+16) mutation. METHODS: Retrospective chart reviews of family members with FTD belonging to nine tau 10(+16) mutation pedigrees in whom neuropathologic examination had been carried out. APOE genotype was determined for those patients for whom DNA was available. RESULTS: The median age at onset was 50 years (range 37 to 59 years; n = 30). The median age at death was 61 years (range 42 to 72 years; n = 33). The median duration of the disease was 11 years (range 3 to 22 years; n = 25) for those who have died and is 17 years (range 15 to 23 years; n = 3) for those living. The most common presenting symptom was disinhibition (n = 23). A minority presented with frontal dysexecutive symptoms, apathy, impairment of episodic memory, or depression. All of these patients subsequently developed personality and behavioral change. Memory impairment, language deficits, ritualistic behavior, hyperphagia, and hyperorality were frequent symptoms. Parkinsonism, neuroleptic sensitivity, or primitive reflexes were present in half of the patients, where these data were available. The clinical features of ALS were absent. Neuropathologic examination of 12 patients demonstrated the hallmark tau-positive neuronal and glial inclusions. APOE genotype did not account for the considerable variation in age at onset, age at death, duration of disease, or severity of estimated brain atrophy. CONCLUSIONS: All cases fulfilled the clinical criteria for a diagnosis of FTD. Despite similar clinical phenotypes, there was considerable variation in age at onset and duration of disease both between and within families, suggesting the presence of an effect due to other genetic or environmental factors.

Adult↗
PubMed2002

Fractionation of visual memory: agency detection and its impairment in autism.

It is known that the adult visual memory system is fractionable into functionally independent cognitive subsystems, selectively susceptible to brain damage. In addition, there have been hints from studies with individuals with autism that these cognitive subsystems can fractionate developmentally. However, there has been a paucity of systematic investigations. The present study involves the analysis of visual memory of a population of individuals with autism and age- and VIQ-matched comparison individuals. The individuals with autism presented selective impairments in face recognition in comparison to both the age- and VIQ-matched comparison populations. In addition, they were impaired relative to the age-matched comparison group on recognition memory for potential agents (i.e. objects capable of self-propelled motion) whether they were living (cats and horses) or non-living (motorbikes). In contrast, they were selectively superior relative to the VIQ-matched comparison group on recognition memory for such objects as topographical stimuli (buildings) and leaves that clearly do not have agency. The data is interpreted in terms of reduced sensitivity to agency cues in individuals with autism and general information processing capacity.

Adolescent↗