Several epidemiological studies support low cancer rates in patients with neurodegenerative disorders, including Parkinson's disease, Huntington's disease, and Alzheimer's disease. Different mechanisms were raised as possible causes, from mutated tumor suppressor genes (PARKIN, PINK1) to small interfering RNA based on the CAG trinucleotide repeat expansions located in introns or untranslated regions. However, as every rule has an exception, some tumors have an increased incidence in these neurodegenerative diseases such as breast and skin cancer (melanoma).
View Article and Find Full Text PDFBackground: Stiff-limb syndrome is part of stiff person spectrum, presenting with fluctuating gait disorders attributed to leg stiffness, spasms, and posturing. It could also manifest with anxiety and specific phobias such as pseudoagoraphobia. We aimed to describe the importance of specific gait phobia as a diagnostic clue to anti-glutamic acid decarboxylase stiff-limb syndrome.
View Article and Find Full Text PDFBackground: Huntington's disease (HD) is a neurodegenerative disorder that includes motor, psychiatric and cognitive manifestations with typical onset of symptoms is in the forties. A percentage of patients (4.4% - 11.
View Article and Find Full Text PDFBackground: Huntington's disease is a rare, neurodegenerative disease caused by an expanded CAG repeat mutation in the huntingtin gene. Compared with adult-onset Huntington's disease, juvenile Huntington's disease (onset ≤20 years) is even rarer and has not been studied extensively. We aimed to further characterise juvenile Huntington's disease by examining the effect of CAG repeat size on disease presentation, progression, and survival.
View Article and Find Full Text PDFTremor Other Hyperkinet Mov (N Y)
November 2018
Background: Holmes tremor is a rare symptomatic movement disorder, characterized by a combination of resting, postural, and intention tremor. It is usually caused by lesions in the brainstem, thalamus, and cerebellum. Despite pharmacological advances, its treatment remains a challenge; many medications have been used with various degrees of effectiveness.
View Article and Find Full Text PDFWe analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.
View Article and Find Full Text PDFYerba mate tea is a very common beverage in some countries of South America. We conducted a case-control study on an individual basis using hospital records to investigate the association between Parkinson's disease (PD) and yerba mate intake. A case was defined as an age of ≥ 40 years with ≥ 1 year of PD.
View Article and Find Full Text PDFTremor Other Hyperkinet Mov (N Y)
June 2016
Background: Dystonic postures possess a great number of differential diagnoses.
Phenomenology Shown: We describe a pseudodystonic posture in a 61-year-old woman with skeletal and extra-skeletal abnormalities.
Educational Value: Klippel-Feil syndrome represents an unusual cause of pseudodystonic posture to be considered in the differential diagnosis of dystonia.
Objectives: To determine clinical characteristics and frequency of leucine-rich repeat kinase 2 gene (LRRK2) mutations in a cohort of patients with Parkinson's disease (PD) from Argentina.
Background: Variation in the LRRK2 gene represents the most common genetic determinant of PD, only few data are available from Latin-America.
Design/methods: Informed consent was obtained and all studies were approved by the Institutional Review Boards.
Background And Purpose: The number of restless legs syndrome (RLS) prevalence studies performed outside Europe and North America remains small. We conducted a community-based study to estimate the relative prevalence of RLS in Argentina.
Patients And Methods: A total sample of 471 participants from high (Buenos Aires) and low population density areas (three cities with <35,000 inhabitants), completed a self-assessment questionnaire, including the International Restless Legs Syndrome Study Group (IRLSSG) diagnostic criteria, to determine RLS symptoms.
Although vascular hemichorea/hemiballism (HC/HB) has been reported to be self-limited, in some cases, it can be irreversible and severely disabling. The standard treatment includes typical and atypical neuroleptics and GABA-mimetic drugs. Topiramate is a new antiepileptic drug possessing a complex mechanism of action, including the enhancement of GABA-mediated inhibition.
View Article and Find Full Text PDFParkinson's disease (PD) is a worldwide neurodegenerative disorder. Although the etiology has been linked to genetic and environmental factors, curative treatment remains a challenge. Several hypotheses support different pathophysiological mechanisms related to oxidative stress, glutamate-mediated neurotoxicity, mitochondrial energetic impairment and nitric oxide (NO) over-production.
View Article and Find Full Text PDFHighly variable phenotype expression has long been recognized in DYT1 carrier patients. We report here an Ashkenazi-Jewish woman who carried a DYT1 mutation and developed a predominant unilateral myoclonic-dystonia (MD) displaying a fluctuating course. The present case is the second supporting the variability of DYT1 phenotype and further illustrates its ability to mimic the MD syndrome.
View Article and Find Full Text PDFWe describe a 48-year-old patient, with a diagnosis of relapsing-remitting multiple sclerosis, who presented to our service with a parkinsonian syndrome that markedly improved after corticosteroid treatment. To the best of our knowledge, only 12 cases of parkinsonism have been reported from 1970 to the present, of which only 8 seemed secondary to MS, i.e.
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