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| 132. |
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| 133. |
- Gorcenco, Sorina, et al.
(författare)
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New generation genetic testing entering the clinic
- 2020
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Ingår i: Parkinsonism and Related Disorders. - : Elsevier BV. - 1353-8020. ; 73, s. 72-84
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Tidskriftsartikel (refereegranskat)abstract
- New generation sequencing (NGS) genetic testing is a powerful diagnostic tool and is increasingly used in the clinical workup of patients, especially in unusual presentations or where a positive family history suggests heritable disease. This review addresses the NGS technologies Targeted sequencing (TS), Whole exome sequencing (WES), Whole genome sequencing (WGS), and the use of gene panels or gene lists for clinical diagnostic purposes. These methods primarily assess nucleotide sequence but can also detect copy number variants and many tandem repeat expansions, greatly simplifying diagnostic algorithms for movement disorders. Studies evaluating the efficacy of NGS in diagnosing movement disorders have reported a diagnostic yield of up to 10.1% for familial and 15.7% for early-onset PD, 11.7–37.5% for dystonia, 12.1–61.8% for ataxia/spastic paraplegia and 11.3–28% for combined movement disorders. Patient selection and stringency in the interpretation of the detected variants and genotypes affect diagnostic yield. Careful comparison of the patient's or family's disease features with the previously reported phenotype associated with the same variant or gene can avoid false-positive diagnoses, although some genes are implicated in various phenotypes. Moving from TS to WES and WGS increases the number of patients correctly diagnosed, but for many patients, a genetic cause cannot be identified today. However, new genetically defined entities are discovered at rapid pace, and genetic databases and our knowledge of genotype-phenotype correlations expand steadily. We discuss the need for clear communication of genetic results and suggest a list of aspects to consider when reporting neurogenetic disorders using NGS testing.
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| 134. |
- Gorcenco, S., et al.
(författare)
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Patient perspective in hereditary ataxia
- 2023
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Ingår i: Parkinsonism & Related Disorders. - 1353-8020. ; 113:Supp, s. 9-9
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Konferensbidrag (refereegranskat)abstract
- Background: Hereditary ataxia is a group of rare disorders. Healthcareproviders and public authorities may have limited knowledge about thisdiagnosis. We asked the patients if they feel well-informed about thediagnosis and whom they usually turn to for support.Methods: Adult patients with a diagnosis of progressive cerebellar ataxiawere identified in the diagnosis register of Scania region or were recruitedthrough a patient organization. All patients were examined clinically. Asurvey with 32 multiple choice and open-ended questions was distributedthrough a secure online tool. Written and informed consent was obtainedfrom every participant. Our study is ethically approved.Results: Participants (N¼79) were aged between 22 and 80 years, onsetvaried from 1 to 73 years. The most common symptom at onset was“impaired balance”. The SARA score median was 10 (SD 9,06). Progress wasdescribed as slow by 87,3% (N¼69). Genetic testing was recalled by 56,9%(N¼45) of which 38% (N¼30) received a genetic diagnosis. Among patientswho had a genetic diagnosis, 76.7% felt “well-informed” (36.7%) or “partlywell informed” (40.0%) about their diagnosis. Among patients who did nothave a genetic diagnosis, 59.2% felt (fully: 22.4%; partly: 36.7%) wellinformed.This difference did not reach statistical significance (Pearson Chi-Square 0,17, Cramer’s V 0,2). On the question “what helps you feel better?”, “exercise” was the predominant answer 40,5% (N¼ 32) followed by “socialsupport from close family” and “medication”. Patients answered that closefamily and friends is the first instance they turn to for moral support (N¼62).Conclusions: This patient-perspective study on hereditary ataxia highlightsthe need to improve the disease-related information that healthservice providers give to their patients, even when the exact geneticsubtype has been established. Physiotherapy and support from closefamily are important for the wellbeing of patients with hereditary ataxia.
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| 135. |
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| 136. |
- Hagell, Peter, et al.
(författare)
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International use of health status questionnaires in Parkinson's disease: translation is not enough.
- 2003
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Ingår i: Parkinsonism & Related Disorders. - 1873-5126. ; 10:2, s. 89-92
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Tidskriftsartikel (refereegranskat)abstract
- The present study assessed the linguistic and content validity of the Swedish version of the 39-item Parkinson's disease questionnaire (PDQ-39). The frame question, response alternatives and two of the 39 items yielded substantial linguistic and stylistic problems. Such shortcomings would be expected to influence responses to, and the quality of, the whole questionnaire. Data support content validity of the PDQ-39 as a functional health status questionnaire, although some shortcomings were identified. This preliminary study illustrates the need for documented linguistic validity before new language adaptations of patient-reported outcome measures can be considered suitable for use in clinical trials, research, and practice.
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| 137. |
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| 138. |
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| 139. |
- Hellberg, Clara, et al.
(författare)
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Nationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegia
- 2019
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Ingår i: Parkinsonism & Related Disorders. - : Elsevier BV. - 1353-8020. ; 69, s. 79-84
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To determine the nationwide prevalence of primary dystonia, ataxia and hereditary spastic paraplegia (HSP) in Sweden. Methods: We extracted data on all patients who were registered in The National Patient Register (NPR) in Sweden (population 9.64 million) at least twice during five consecutive years with a diagnosis of primary dystonia, ataxia or HSP. We excluded patients with an additional diagnosis possibly indicating secondary causes, and determined the proportion of wrongly diagnosed patients at our own tertiary center by patient examination or chart review. We analyzed patients' age and disorder subtypes, geographical distribution of patients within Sweden and the country of birth of all patients. Results: Nationwide, we identified 4239 patients (31.6% male) with a diagnosis of primary dystonia. Of 347 patients with dystonia at our center, 20.2% may have had a different final diagnosis. Extrapolation of this uncertainty rate to the national population resulted in a prevalence for primary dystonia of 35.1/100,000. There were 672 patients (49.6% male) with ataxia in NPR, and the diagnostic uncertainty rate among 81 patients in our center was 13.6% (prevalence 6.0/100,000). HSP was diagnosed in 235 patients nationwide (52.3% male, prevalence 2.4/100,000). Patients were distributed relatively evenly throughout the country. The proportions of patients with these diagnoses who were born outside of Sweden were lower (8.0-12.7%) than the proportion of all Swedish residents born abroad (15.9%). Conclusions: In this large, nationwide study, the prevalence of dystonia was high compared to previous studies, which partly may be explained by the high coverage of NPR.
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| 140. |
- Hellem, Marie N.N., et al.
(författare)
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Decreased CSF oxytocin relates to measures of social cognitive impairment in Huntington's disease patients
- 2022
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Ingår i: Parkinsonism and Related Disorders. - : Elsevier BV. - 1353-8020. ; 99, s. 23-29
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Huntington's disease (HD) is an inherited neurodegenerative disease with motor, cognitive and psychiatric symptoms. Non-motor symptoms like depression and altered social cognition are proposed to be caused by dysfunction of the hypothalamus. We measured the hypothalamic neuropeptide oxytocin in plasma and cerebrospinal fluid (CSF) in a cohort of HD gene expansion carriers (HDGECs), compared the levels to healthy HD family controls and correlated oxytocin levels to disease progression and social cognition. Methods: We recruited 113 HDGECs and 33 controls. Psychiatric and cognitive symptoms were evaluated, and social cognition was assessed with the Emotion Hexagon test, Reading the Mind in the Eyes and The Awareness of Social Inference Test. The levels of oxytocin in CSF and blood were analyzed by radioimmunoassay. Results: We found the level of oxytocin in CSF to be significantly lower by 33.5% in HDGECs compared to controls (p = 0.016). When dividing the HDGECs into groups with or without cognitive impairment, we found the oxytocin level to be significantly lower by 30.3% in the HDGECs with cognitive symptoms (p = 0.046). We found a statistically significant correlation between the level of oxytocin and scores on social cognition (Reading the Mind in the Eyes p = 0.0019; Emotion Hexagon test: p = 0.0062; The Awareness of Social Inference Test: p = 0.002). Conclusions: This is the first study to measure oxytocin in the CSF of HDGECs. We find that HDGECs have a significantly lower level of oxytocin compared to controls, and that the level of oxytocin may represent an objective and comparable measure that could be used as a state biomarker for impairment of social cognition. We suggest treatment trials to evaluate a potential effect of oxytocin on social cognition in HD.
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