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Niall Quinn

Publications and source records attributed to Niall Quinn.

34 records · Page 2Linked to original sources
PubMed2004

Development of a measure of the impact of chronic parental illness on adolescent and adult children. The parental illness impact scale (Parkinson's disease).

Although chronic illness is likely to affect the well-being of patients' children, no assessment tools are currently available to measure this impact of parental illness. We therefore developed such an instrument based on interviews with children of patients with Parkinson's disease (PD). This questionnaire and other measures of psychological well-being were completed by 89 children, aged 12-48, years of patients with PD. Factor analysis revealed six domains with 38 questions. These six domains of the 'Parental Illness Impact Scale (Parkinson's disease)' or PIIS (PD) had satisfactory internal consistency and validity. Its six sub-scales correlated significantly and differentially with corresponding measures, including the Quality of Life in Epilepsy Inventory for Adolescents (QOLIE-AD-48; r = -0.2 to 0.85), the Beck Depression Inventory (r = -0.07 to -0.40) or Birleson Depression Self-Rating Scale (r = 0.04 to -0.62), and the Rosenberg Self-Esteem Scale (r = -0.01 to 0.33) as well as age (r = -0.37 to 0.28) and parent's disease duration (r = -0.31 to 0.34). The PIIS is the first instrument to assess the impact of parental illness on children. Its psychometric properties should be tested further in larger samples, including children of patients with other chronic disorders such as multiple sclerosis or chronic heart disease.

Adolescent↗
PubMed2004

Impact of Parkinson's disease on patients' adolescent and adult children.

We assessed the impact of Parkinson's disease (PD) on the well-being of patients' adolescent and adult children. Eighty-nine participants aged 12-48 completed a number of questionnaires on quality of life (QoL) and psychosocial variables. One fifth of the participants were mildly to moderately depressed, and children below the age of 18 years scored similarly to children with epilepsy in the domains of Attitude, School behaviour, and Social support on a QoL instrument for children with epilepsy. The impact of parental PD increased with disease duration. Younger children perceived a higher burden of daily help and impact on their social interactions than older children, while older participants reported greater impairment of family functioning. More than 50% felt that they did not have sufficient information about PD and half of all participants felt that more information would reduce their feelings of uncertainty and insecurity. PD has a marked effect on the well-being of the adult and adolescent children of patients. The difficulties of children of parents with PD should receive greater attention.

Adolescent↗
PubMed2003

The role of pathogenic DJ-1 mutations in Parkinson's disease.

Mutations in DJ-1 (PARK7) have been reported in two consanguineous families with young-onset Parkinson's disease (YOPD). This study aims to confirm the presence of pathogenic DJ-1 mutations and determine their contribution in young-onset and more typical later onset Parkinson's disease (PD). The entire open reading frame of the DJ-1 gene was screened by direct sequencing in 185 unrelated YOPD patients and a separate cohort of 190 pathologically proven cases of PD. Ethnically matched controls were screened for all mutations identified. We report a low frequency of pathogenic DJ-1 mutations in our cohort of patients. One homozygous missense mutation and one heterozygous mutation were found in two YOPD samples. In addition, several variants were found in the coding sequence of the gene, which are likely to represent polymorphisms. In one case, the polymorphism was population specific. The reported 14Kbp deletion was not found in any of our samples or controls. We confirm the presence of pathogenic DJ-1 mutations in YOPD and estimate their frequency at approximately 1%. No mutations were found in our cohort of later onset sporadic pathologically confirmed cases, suggesting that DJ-1 mutations may only rarely contribute to the cause of this more typical sporadic form of the disease.

Adult↗
PubMed2003

Slowly progressive cerebellar ataxia and cervical dystonia: clinical presentation of a new form of spinocerebellar ataxia?

We describe 5 cases with a rare combination of young-onset, slowly progressive cerebellar ataxia and cervical dystonia. Two were sporadic, whereas the other 3 were familial, including 2 from one family. The age of onset of these cases was between 16 and 37 years. The presenting symptom was cervical dystonia and/or dystonic head tremor in 3 patients and hand or lower limb tremor in 2. In 2 cases, cervical dystonia and/or dystonic head tremor developed approximately 6 to 10 years before cerebellar dysfunction, and in three they developed at the same time. Apart from cervical dystonia, there was mild dystonic limb involvement in 2 cases, but generalized dystonia was not seen. Cerebellar ataxia was slowly progressive. A literature search showed 10 cases of cervical dystonia associated with genetically undetermined (n = 5) or genetically proven (n = 5) spinocerebellar ataxia (SCA). When the genotype was known, these patients had either SCA3, 6, 7, or 12. However, our 5 cases (or their first-degree relatives) tested negative for SCA1, 2, 3, 6, and 7, and in the 4 cases (or their first-degree relatives) tested for SCA12, the result was negative. We propose that this rare phenotype manifesting as a combination of cerebellar ataxia and cervical dystonia may represent one or more new, as yet uncharacterized, genotypes of inherited young-onset spinocerebellar ataxia.

Adult↗
PubMed2003

Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders.

As there are no biological markers for the antemortem diagnosis of degenerative parkinsonian disorders, diagnosis currently relies upon the presence and progression of clinical features and confirmation depends on neuropathology. Clinicopathologic studies have shown significant false-positive and false-negative rates for diagnosing these disorders, and misdiagnosis is especially common during the early stages of these diseases. It is important to establish a set of widely accepted diagnostic criteria for these disorders that may be applied and reproduced in a blinded fashion. This review summarizes the findings of the SIC Task Force for the study of diagnostic criteria for parkinsonian disorders in the areas of Parkinson's disease, dementia with Lewy bodies, progressive supranuclear palsy, multiple system atrophy, and corticobasal degeneration. In each of these areas, diagnosis continues to rest on clinical findings and the judicious use of ancillary studies.

Biomarkers↗
PubMed2003

Young- versus older-onset Parkinson's disease: impact of disease and psychosocial consequences.

The effect of Parkinson's disease (PD) on young patients' lives is likely to differ from that in older patients. For this study, 75 patients with onset of PD before the age of 50 and 66 patients with later onset completed a booklet of questionnaires on demographic and clinical variables, quality of life, and psychosocial factors. Apart from a higher rate of treatment-related dyskinesias in the younger onset group, the two groups did not differ in self-reported disease severity or disability. A higher percentage of young-onset patients was unemployed due to disability or had retired early. Quality of life as measured on the PDQ-39 was significantly worse in young-onset patients than in older-onset patients. Young-onset patients also had worse scores on the stigma and marital satisfaction scales, and were depressed more frequently. Differences between the two groups in their most commonly employed coping strategies and in terms of their satisfaction with emotional support did not reach significance. We conclude that young-onset patients more frequently experience loss of employment, disruption of family life, greater perceived stigmatization, and depression than do older-onset patients with PD. In addition to more severe treatment-related motor complications, social and psychosocial factors may contribute to greater impairment of quality of life in young patients with PD.

Activities of Daily Living↗
PubMed2003

Health-related quality of life in patients with progressive supranuclear palsy.

We assessed health-related quality of life (QoL) of patients with progressive supranuclear palsy (PSP), identified the most important QoL issues in patients with this disorder, and assessed the usefulness of existing QoL measures in patients with PSP. Twenty-seven patients in all stages of PSP and their carers underwent a semistructured in-depth interview on the impact of PSP and a neurological examination. They were also asked to complete existing measures of QoL and depression. An item-pool of issues relevant to QoL of patients with PSP was created from the patient and carer interviews. Carers and patients largely agreed on issues relevant for patients' QoL but more carers than patients considered symptoms of frontal lobe dysfunction as problematic for the patients. There was no association of QoL with age and gender, as assessed in interviews and on two QoL instruments. QoL deteriorated with increasing disease duration and severity and greater cognitive impairment and was associated with worse depression scores. While the generic SF-36 was not found to be useful to assess QoL in PSP, feasibility and validity for the PDQ-39 and the EQ-5D were acceptable in this study. However, additional issues relevant to patients with PSP that were not addressed in these instruments included visual disturbances, dysarthria, dysphagia, muddled thinking, confusion, and apathy. The generic EQ-5D and the Parkinson's disease-specific PDQ-39 are useful instruments to assess QoL in patients with PSP. However, they lack questions on important aspects of QoL in PSP that were reported by patients and carers in semistructured interviews. The item pool created in these interviews provides the basis for the development of disease-specific QoL instruments for patients with PSP.

Aged↗
PubMed2003

Sweating dysfunction in Parkinson's disease.

We sought to determine the prevalence and nature of sweating disturbances in patients with Parkinson's disease (PD), and investigated their correlation with other clinical features and with Quality of Life (QoL) measures. A questionnaire on symptoms and consequences of sweating dysfunction was completed by 77 consecutive outpatients, from three movement disorder clinics, and 40 controls. QoL was assessed using the disease-specific Parkinson's Disease Questionnaire (PDQ)-39 and generic EuroQoL (EQ)-5D rating scales. Patients also underwent a clinical examination, including assessment with the Unified Parkinson's Disease Rating Scale and the Hoehn and Yahr staging system. Sweating disturbances, either hypohidrosis or in particular, hyperhidrosis, were reported by 64% of patients and by 12.5% of controls (P < 0.005) and were often localised or asymmetric. Complaints of sweating disturbances were not correlated with disease severity, but did correlate with other symptoms of autonomic dysfunction. Sweating problems occurred predominantly in off periods and in on periods with dyskinesias. Sweating disturbances were not correlated with overall QoL scores, but we did observe a significant correlation with the pain dimension of the PDQ-39 and the visual analogue scale of the EQ-5D. Furthermore, many patients reported physical, social, and emotional impairment due to sweating. Sweating disturbances are common and distressing symptoms of PD that are related mainly to autonomic dysfunction, off periods, and dyskinesias.

Aged↗
PubMed2003

Parkin disease: a phenotypic study of a large case series.

Mutations in the parkin gene, PARK2, are a common cause of parkinsonism in familial as well as isolated cases with an age of onset <40 years and should be considered in the diagnostic work up of young-onset parkinsonism. We report a detailed clinical evaluation of a personal series of 24 patients with mutations in the parkin gene. The clinical presentation of most cases was broadly comparable to that of previous descriptions of autosomal recessive early-onset or juvenile parkinsonism and young-onset Parkinson's disease and also had similarities with phenotypes of dopa-responsive dystonia. However, our only case with consanguineous parents had an age of onset of 54 years. We report three new phenotypes at presentation: cervical dystonia; autonomic dysfunction and peripheral neuropathy; and pure exercise-induced dystonia. We emphasize a number of clinical features that can be seen in parkin disease: focal dystonia; early instability; freezing; festination or retropulsion; concurrent autonomic failure; dramatic response to anticholinergics; early or atypical L-dopa-induced dyskinesias; exquisite sensitivity to small doses of L-dopa; and recurrent psychosis, even taking L-dopa alone. We also report behavioural disorder prior to the onset of parkinsonism. Some relatives carrying a single parkin mutation without extrapyramidal symptoms or signs also had psychiatric symptoms that might be related to their carrier status.

Adult↗
PubMed2002

Progressive delayed-onset dystonia after cerebral anoxic insult in adults.

The basal ganglia, especially the globi pallidi (GP), are highly vulnerable to generalized cerebral anoxia/hypoxia. We report on 2 new cases with delayed-onset generalized dystonia due to cerebral anoxia. The onset of dystonia in both of our patients was delayed by about 2 months. In both cases, the unusual feature was the progressive worsening and the spread of dystonia over many years after delayed onset. Dystonia progressed for 16 years in Case 1 and for 4 years in Case 2. Furthermore, initial magnetic resonance imaging (MRI) scan of Case 1 showed mild changes of the internal capsule sparing the basal ganglia. Years later, in line with clinical progression, the follow-up MRI scan showed isolated bilateral lesions involving the entire GP. MRI scans in Case 2 showed bilateral lesions of caudate and lentiform nuclei. There may be several mechanisms underlying delayed and progressive symptoms after time-limited brain anoxia. We hypothesize that anoxia-induced excitotoxicity resulting in mitochondrial dysfunction and subsequent apoptosis may explain, at least partly, the delayed-onset and progressive extrapyramidal syndromes seen in these patients.

Adult↗
PubMed2002

Beginning-of-dose and rebound worsening in MPTP-treated common marmosets treated with levodopa.

A wide range of motor fluctuations develop in Parkinson's disease (PD) patients after prolonged levodopa (L-dopa) treatment, but few experimental models exist in which these can be investigated. We report on motor fluctuations occurring in MPTP-treated common marmosets (Callithrix jacchus) treated repeatedly with L-dopa. All animals showed an improvement in motor function in response to L-dopa, and rapidly developed peak-dose dyskinesia. During the period of L-dopa action, brief periods of immobility were occasionally observed. After acute L-dopa challenge, animals exhibited a worsening of motor function before improvement, and after the beneficial response to L-dopa declined, motor performance showed rebound worsening to below-baseline values. Before L-dopa challenge and during wearing-off and rebound worsening, leg dystonias were observed. Although these findings cannot necessarily be generalized to all MPTP-treated nonhuman primates, they demonstrate that MPTP-treated marmosets show a range of different motor fluctuations analogous to those seen in PD patients chronically treated with L-dopa. Therefore, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-treated primates can provide a model in which the pathophysiology of treatment complications can be investigated.

1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine↗
PubMed2002

Application of the International Cooperative Ataxia Scale rating in multiple system atrophy.

We assessed the International Cooperative Ataxia Scale (ICARS) as a means of extracting and rating cerebellar signs in multiple system atrophy (MSA). Cross-sectional analysis of internal consistency, factor structure, and correlation with parkinsonism severity (Unified Parkinson's Disease Rating Scale [UPDRS] III) of the ICARS, in 50 unselected MSA patients (mean age, 67.6 years; mean disease duration, 5.5 years), 50 age-matched and disease duration-matched Parkinson' disease (PD) patients, and 50 control subjects. Fifteen patients (30%) had MSA-C (cerebellar subtype) and 35 (70%) MSA-P (parkinsonism subtype), and 66% had at least one cerebellar sign. The total ICARS score was much higher (fivefold) in MSA compared to PD patients. The ICARS score was twofold higher in MSA-C than in MSA-P patients. MSA-C patients had a higher score than MSA-P mainly on posture and gait disturbances and kinetic functions subscores. All the ICARS items were significantly more severe in MSA than in PD patients, who in turn scored higher than the controls. In MSA, internal consistency was excellent (Cronbach = 0.93). Factor structure analysis revealed four clinically distinct subscores, in accordance with the scale structure, which accounted for 70% of the variance. The ICARS showed less consistency and accuracy in PD patients; however, the ICARS scores significantly correlated with the UPDRS-III scores in both MSA and PD patients. The ICARS appears a useful tool to extract and rate the severity of cerebellar signs in MSA; however, it is clearly contaminated by parkinsonian features.

Aged↗
PubMed2002

How common are complications of Parkinson's disease?

BACKGROUND: Parkinson's disease (PD) can be associated with a wide range of complications of advancing disease and treatment. However, it is unclear how often these occur in the overall population of patients with PD. OBJECTIVE: To assess the prevalence of disease and treatment complications and their clinical correlates in a community-based sample of 124 patients with PD. RESULTS: Average current age was 72 (SD 10.9) and mean disease duration 6 (SD 4.3) years. Falls with postural instability and other axial features were among the most common complications of advancing disease in this population (64 %). Motor fluctuations and dyskinesias affected approximately 30 and 20 % of the overall sample respectively, and changes in mental state such as dementia, depression and hallucinations each affected approximately one fifth of patients. Symptoms of autonomic nervous system dysfunction occurred in the great majority of patients, but were not associated with greater disease severity, disease duration or overall disability. CONCLUSION: In contrast to clinic-based samples, the most frequently occurring complications of PD in this community-based sample were axial features such as postural instability with falls. These factors should be more taken into account in the allocation of health care resources and the treatment of symptoms of patients with PD in the community.

Accidental Falls↗
PubMed2002

Dyskinesias following neural transplantation in Parkinson's disease.

Severe dyskinesias during the 'off' phases (periods of increased Parkinson's disease (PD) disability) have been observed following intrastriatal transplantation of human embryonic mesencephalic tissue. Here we retrospectively analyzed 14 patients who were followed for up to 11 years after grafting, and found that dyskinesias (abnormal involuntary movements and postures) increased during postoperative off phases, but were generally of mild to moderate severity. Dyskinesia severity was not related to the magnitude of graft-derived dopaminergic re-innervation, as judged by (18)F-labeled 6-L-fluorodopa (FD) positron emission tomography (PET), indicating that off-phase dyskinesias probably did not result from excessive growth of grafted dopaminergic neurons.

Brain Tissue Transplantation↗