Treatable inherited rare movement disorders Jinnah, H. A.; Albanese, Alberto; Bhatia, Kailash P. ...
Movement disorders,
January 2018, Letnik:
33, Številka:
1
Journal Article
Background and purpose
Despite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be limited in clinical practice. The ...objective of this study was to assess worldwide access to genetic tests for movement disorders and factors impacting their utilization.
Methods
The Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members.
Results
Survey data completed by 1269 participants from 109 countries were analysed. Limited access to geneticists and genetic counsellors was reported in many world regions compared to Europe and North America. Availability of genetic testing was limited, with rates of access lower than 50%. Genetic testing for chorea was the most commonly available. For parkinsonism, dystonia, ataxia, hereditary spastic paraplegias and metabolic disorders, there was limited access to genetic testing in all countries compared to Europe and North America, with significant differences found for Africa, Central/South America, Asia. In many regions, genetic testing was supported by either private or public funding. Genetic testing was free of charge in Europe according to 63.5% of respondents. In North America, Africa, Central/South America, Asia and the Middle East access to free of charge genetic testing was by far significantly lower compared to Europe.
Conclusions
This survey highlights difficulties in accessing genetic testing and individuals with expertise in genetics at the worldwide level. In addition, major disparities in genetic testing amongst world regions are highlighted, probably due to a variety of factors including financial barriers.
In this online survey designed by the Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society, worldwide access to genetic tests for movement disorders and factors impacting their utilization were investigated. Access to geneticists and genetic counsellors as well as to genetic testing for movement disorders was limited at worldwide level, with significant differences in most world regions compared to Europe and North America. Our results highlight major disparities in accessing genetic testing and experts in genetics amongst world regions, probably due to a variety of factors including financial barriers.
Parkinson’s disease (PD) is characterized by the progressive loss of dopaminergic neurons in the substantia nigra pars compacta, which results in a prominent reduction of striatal dopamine levels ...leading to motor alterations. The mechanisms underlying neurodegeneration in PD remain unknown. Here, we generated an induced pluripotent stem cell line from dermal fibroblasts of a Mexican patient diagnosed with sporadic PD (UNAMi002-A) and another cell line from dermal fibroblasts of a patient carrying the point mutation c.1423delC in PINK1 (UNAMi003-A). These patient-derived iPS cell lines offer the possibility of modeling PD and understanding the mechanisms that contribute to dopamine neuron loss.
Abstract Background Impulse control disorders (ICDs) are a relatively recent addition to the behavioral spectrum of PD-related non-motor symptoms. Social and economic factors may play a role on the ...ICD phenotype of PD patients. Objective The aim of this study is to determine the prevalence and characterize the clinical profile of ICDs in a sample of low-income, low-education PD patients with no social security benefits from a Latin American country. Methods We included 300 consecutive PD patients and 150 control subjects. The presence of ICD and related disorders was assessed using a structured interview. After the interview and neurological evaluation were concluded, all subjects completed the Questionnaire for Impulsive-compulsive Disorders in Parkinson's Disease-Rating Scale (QUIP-RS). Results Regarding ICDs and related disorders (hobbyism-punding), 25.6% ( n = 77) of patients in the PD group and 16.6% ( n = 25) in the control group fulfilled criteria for at least one ICD or related disorder ( p = 0.032). There was a statistically significant difference in the QUIP-RS mean score between PD and control subjects (5.6 ± 9.7 and 2.7 ± 4.21, p = 0.001). The most common ICD was compulsive eating for both PD (8.6%) and control (2.6%) groups. Conclusions The results of this study confirm that for this population, symptoms of an ICD are significantly more frequent in PD subjects than in control subjects. Nevertheless, socioeconomic differences may contribute to a lower overall frequency and distinct pattern of ICDs in PD patients compared with what has been reported in other countries.
The wearing-off phenomenon is common in patients with Parkinson's disease. Motor and non-motor symptoms can fluctuate in relation to the "on/off" periods. To assess the impact of motor and non-motor ...wearing-off on activities of daily living and quality of life of patients with PD.
A cross-sectional study was carried out. All patients were evaluated using the Movement Disorders Society Unified Parkinson's Disease Rating Scale. Wearing-off was assessed using the Wearing-Off Questionnaire-19, and quality of life was assessed using the Parkinson's Disease Questionnaire-8.
A total of 271 patients were included; 73.4% had wearing-off; 46.8% had both motor and non-motor fluctuations. Patients with both motor and non-motor wearing-off had a worst quality of life compared with those with only motor fluctuations (p = 0.047).
Motor and non-motor fluctuations have an impact on activities of daily living and quality of life. Non-motor wearing-off may have a higher impact.
Parkinson’s disease (PD) is a neurodegenerative disease caused by progressive loss of dopaminergic neurons in the substantia nigra pars compacta, which results in motor alterations. The exact ...mechanisms underlying the dopaminergic neurodegeneration in PD are still unknown. Here, we generated a human induced pluripotent stem cell (iPSC) line from dermal fibroblasts of a Mexican patient diagnosed with sporadic PD. The generated iPS cell line (UNAMi001-A) express pluripotency markers, maintain a normal karyotype and display the ability to differentiate into all three germ layers. This is the first iPSC line from a Mexican patient and will be useful for PD modeling.
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