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The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease.
A Albanese, E M Valente, L M Romito, E Bellacchio, A E Elia, B Dallapiccola,
Mutations in the PINK1 gene cause autosomal recessive parkinsonism characterized by early onset and a variable phenotypic presentation. A patient homozygous for the Ala168Pro mutation has been fully characterized clinically. Apart from onset at age 39 years and the excellent and sustained response to levodopa, all clinical and laboratory features, including SPECT and assessment of autonomic function, were indistinguishable from typical idiopathic Parkinson disease.
Neurology - Jun 2005
Olfactory dysfunction in parkinsonism: a general deficit unrelated to neurologic signs, disease stage, or disease duration.
R L Doty, D A Deems, S Stellar,
To explore the nature of the olfactory dysfunction associated with Parkinson's disease (PD), 81 PD patients who scored well on a cognitive screening test were administered the 40-odorant University of Pennsylvania Smell Identification Test; 38 were additionally given a forced-choice phenylethyl alcohol odor detection threshold test. Clinical ratings of 11 neurologic symptoms (three bilateral) were obtained at the time of testing, and odor identification was retested in 24 patients at intervals ranging from 5 to 39 months. Relative to matched controls, the PD patients exhibited consistent and marked decrements on both types of olfactory tests (ps less than 0.0001). The odor identification deficit was not restricted to any subset of odorants and did not evidence longitudinal change. A factor analysis of the intercorrelations among the variables yielded six easily interpretable factors: general motor, oral motor, olfactory function, cognitive function, tremor, and gender. Olfactory test scores were independent of all other measures, including disease stage and duration. Seventy-two percent of the PD patients were unaware of a smell disorder before testing; those who were aware had significantly lower test scores. A statistical comparison of PD patients' olfactory test scores to those obtained from Alzheimer's disease patients found the olfactory disorders of these diseases to be indistinguishable. The data support the hypothesis that the olfactory deficit of PD is a general and stable one which likely occurs early in the disease process.
Neurology - Aug 1988
Analysis of oropharyngeal dysphagia through fibroendoscopy evaluation of swallowing in patients with Parkinson's disease.
Melissa Correa-Flores, Emilio Arch-Tirado, Alicia Villeda-Miranda, Karina Elizabeth Rocha-Cacho, Antonio Verduzco-Mendoza, Xochiquetzal Hernández-López,
Parkinson's disease (PD) has a high incidence in Mexico and is estimated at approximately 500,000 patients. One of the main clinical manifestations of PD is dysphagia, which is the difficult passage of food from the mouth to the stomach. The aim of this study was to assess oropharyngeal dysphagia through fibroendoscopy evaluation of swallowing in patients with PD.
Cirugia y cirujanos -
Oro-buccal symptoms (dysphagia, dysarthria, and sialorrhea) in patients with Parkinson's disease: preliminary analysis from the French COPARK cohort.
S Perez-Lloret, L Nègre-Pagès, A Ojero-Senard, P Damier, A Destée, F Tison, M Merello, O Rascol, ,
Abnormal oro-buccal functions including dysarthria, sialorrhea and dysphagia commonly affect patients with Parkinson's disease (PD).
European journal of neurology - Jan 2012
MRI assessment of basal ganglia iron deposition in Parkinson's disease.
Lauren I Wallis, Martyn N J Paley, Jacqueline M Graham, Richard A Grünewald, Emma L Wignall, Harriet M Joy, Paul D Griffiths,
To estimate the levels of basal ganglia iron levels in Parkinson's disease (PD) using the PRIME MR sequence at 3.0 Tesla, in relation to patients' motor symptom severity.
Journal of magnetic resonance imaging : JMRI - Nov 2008
Sydney Multicenter Study of Parkinson's disease: non-L-dopa-responsive problems dominate at 15 years.
Mariese A Hely, John G L Morris, Wayne G J Reid, Robert Trafficante,
One-third of the 149 people recruited 15 to 18 years ago in the Sydney Multicenter Study of Parkinson's disease have survived. The original study compared low-dose levodopa with low-dose bromocriptine. We now report the problems experienced by people who survive 15 years from diagnosis. The standardized mortality ratio is significantly elevated at 1.86 and is not significantly different between treatment arms. Falls occur in 81% of patients, and 23% sustained fractures. Cognitive decline is present in 84%, and 48% fulfill the criteria for dementia. Hallucinations and depression are experienced by 50%. Choking has occurred in 50%, symptomatic postural hypotension in 35%, and urinary incontinence in 41%. No patient is still employed, and 40% of patients live in aged care facilities. Although approximately 95% have experienced L-dopa-induced dyskinesia/dystonia and end of dose failure of medication, in the majority, these symptoms are not disabling. Dyskinesia and dystonia were delayed by early use of bromocriptine, but end-of-dose failure appeared at a similar time once L-dopa was added. The rate of disease progression is similar in both arms of the study. We conclude that the most disabling long-term problems of Parkinson's disease relate to the emergence of symptoms that are not improved by L-dopa. Neuroprotective interventions in Parkinson's disease should be judged by their ability to improve non-L-dopa-responsive aspects of the disease, rather than just by their capacity to delay the introduction of L-dopa or reduce its associated side effects.
Movement disorders : official journal of the Movement Disorder Society - Feb 2005
Neuropathy in Parkinson disease: prevalence and determinants.
Yusuf A Rajabally, Jean Martey,
To ascertain the prevalence and determinants of neuropathy in patients with Parkinson disease (PD), in particular, the roles of vitamin B12 and levodopa exposure.
Neurology - Nov 2011