Parkinson's Disease

Barbosa, Egberto Reis; Limongi, João Carlos Papaterra; Cummings, Jeffrey L.

doi:10.1016/s0193-953x(05)70344-0

Cited by 43 publications

(28 citation statements)

References 60 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Moreover, in tissues with highly organized structure, the loss of relatively few but strategically placed cells also may result in disease. In the central nervous system, for example, loss of specific dopaminergic striatal neurons may result in Parkinson's disease (4), whereas in the heart, focal cell loss and scar formation may lead to conduction disturbances, either by blocking the specialized conduction pathway (5) or by promoting slow impulse conduction and facilitating reentry (6,7). Thus, a versatile system to specifically ablate cells of any lineage and developmental stage would be of substantial benefit to model human diseases of various etiologies.…”

mentioning

confidence: 99%

Conditional lineage ablation to model human diseases

Lee

Morley

Huang

et al. 1998

Proc. Natl. Acad. Sci. U.S.A.

107

View full text Add to dashboard Cite

Cell loss contributes to the pathogenesis of many inherited and acquired human diseases. We have developed a system to conditionally ablate cells of any lineage and developmental stage in the mouse by regulated expression of the diphtheria toxin A (DTA) gene by using tetracyclineresponsive promoters. As an example of this approach, we targeted expression of DTA to the hearts of adult mice to model structural abnormalities commonly observed in human cardiomyopathies. Induction of DTA expression resulted in cell loss, fibrosis, and chamber dilatation. As in many human cardiomyopathies, transgenic mice developed spontaneous arrhythmias in vivo, and programmed electrical stimulation of isolated-perfused transgenic hearts demonstrated a strikingly high incidence of spontaneous and inducible ventricular tachycardia. Affected mice showed marked perturbations of cardiac gap junction channel expression and localization, including a subset with disorganized epicardial activation patterns as revealed by optical action potential mapping. These studies provide important insights into mechanisms of arrhythmogenesis and suggest that conditional lineage ablation may have wide applicability for studies of disease pathogenesis.

show abstract

mentioning

confidence: 99%

Conditional lineage ablation to model human diseases

Lee

Morley

Huang

et al. 1998

Proc. Natl. Acad. Sci. U.S.A.

107

View full text Add to dashboard Cite

show abstract

“…PD ethiopathogenesis involves progressive neuronal loss in the substantia nigra of the midbrain leading to dopamine deficiency. The primary clinical manifestation of PD is characterized by resting tremor, bradykinesia, rigidity and postural instability 2,3 . The definitive diagnosis of PD is confirmed by the presence of Lewy bodies during post mortem pathological examination of the brain 4 .…”

Section: Introductionmentioning

confidence: 99%

Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease

Chien

Figueiredo

Hollaender

et al. 2014

Arq. Neuro-Psiquiatr.

Self Cite

View full text Add to dashboard Cite

Mutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson's disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable from idiopathic PD. Its prevalence varies according to the population studied ranging from less than 0.1% in Asians to 41% in North African Arabs. This study aimed to identify G2019S mutation in Brazilian idiopathic PD patients. Method: We sampled 100 PD patients and 100 age-and gender-matched controls. Genetical analysis was accomplished by polymerase chain reaction (PCR). Results: No G2019S mutations were found in both patients with sporadic PD and controls. Conclusions: Our results may be explained by the relatively small sample size.Keywords: Parkinson's disease, LRRK2, genetics. RESUMOMutação no gene LRRK2, predominantemente G2019S, foi descrita em indivíduos com doença de Parkinson (DP) esporádica ou herança autossômica dominante. A penetrância da mutação varia com a idade e há evidências de ancestral comum. As manifestações clínicas são indistinguíveis da DP idiopática. Sua prevalência depende da população estudada e varia de 0,1% em asiáticos a 41% em árabes do norte africano. O objetivo desse estudo foi identificar a mutação G2019S em brasileiros com DP esporádica. Método: Foram testados 100 pacientes com DP e 100 controles pareados por idade e sexo. A análise genética foi realizada pela reação em cadeia por polimerização (PCR). Resultados: Não foi encontrada a mutação G2019S nem nos pacientes com DP nem nos controles. Conclusão: É possível que nossos resultados sejam devidos ao pequeno número de pacientes incluídos.Palavras-chave: doença de Parkinson, LRRK2, genética.

show abstract

“…Concomitant linguistic and non-linguistic deficits that may accompany the disease, coupled with the possible onset of dementia often confound a perspective of the patient's cognitive abilities (Savage, 1997;Yorkston & Garrett, 1997). Studies addressing language and cognitive function in adults with PD have revealed some inconsistencies relative to specific disturbances (Barbosa, Limongi, & Cummings, 1997;Bayles, Tomoeda, Wood, Cruz, Azuma, & Montgomery, 1997;Lubinski, 1997). Few studies address the effects that PD may have on language functioning, and reported findings have often been inconsistent.…”

mentioning

confidence: 99%

Generative word fluency skills in adults with Parkinson's disease

Hough¹

2004

Aphasiology

View full text Add to dashboard Cite

Background: Studies addressing cognitive function of adults with Parkinson's disease (PD) have revealed inconsistencies relative to language disturbances. Whereas some researchers have observed no evidence to support language dysfunction on semantic/generative naming tasks, others have found that adults with PD display decreased performance on these tasks. Generative naming may be problematic for adults with PD but its usefulness as a predictor for identifying cognitive impairment in this population is unclear. Aims: The purpose of the investigation was to examine performance of a group of 20 PD individuals and an age-, education-, and gender-matched control group of 20 individuals on generative naming tasks for nouns, verbs, and adjectives. The primary hypothesis was that the adults with PD would demonstrate a deficit in verb generation.Methods & Procedures: All participants with PD had a diagnosis based on the presence of two of three classic PD signs, bradykinesia, resting tremor, and rigidity, as determined by a neurologist. All participants were native English speakers, had normal or corrected vision, passed a hearing screening, and had no history of developmental disabilities, head injury, or substance abuse. There were no significant differences between groups on premorbid Full Scale IQ or cognitive functioning as measured by the MMSE. The experimental procedure consisted of noun, verb, and adjective fluency tasks. Participants were instructed to name as many exemplars as possible in 60 seconds for each part of speech. Scores were based on total number and percentage of accurate responses. Outcomes & Results: Both groups produced significantly more nouns than verbs and adjectives. Percentage of accuracy data revealed that: (1) the control group was significantly more accurate than the Parkinson's group; (2) the Parkinson's group was significantly less accurate than controls on adjective generation; and (3) significantly higher accuracy was observed for nouns and verbs than adjectives across groups. Overall word retrieval performance as measured by the Test of Adolescent/Adult Word Finding was significantly related to adjective generation only. Conclusions: The group with PD exhibited an impairment in adjective generation as compared to controls. Mental representations for adjectives appear to be more multifaceted than representations for nouns and verbs. The increased complexity of semantic networks for adjectives may be vulnerable to the effects of brain damage associated with PD.

show abstract

Parkinson's Disease

Cited by 43 publications

References 60 publications

Conditional lineage ablation to model human diseases

Conditional lineage ablation to model human diseases

Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease

Generative word fluency skills in adults with Parkinson's disease

Contact Info

Product

Resources

About