P.041 First Degree Movement Disorders Cases and Research

Background: While researchers pursue the etiology, pathophysiology and treatment of movement disorders, presently there is no biological marker for the two most common disorders – essential tremor (ET), and Parkinson’s disease and variants (Parkinson syndrome, or PS). The diagnosis of each remains clinical, but definitive diagnosis is made on brain pathology. Population epidemiological studies are hampered by a lack of diagnostic precision. Twins with the same disorder are scarce, and the next best option is studies of well-documented first-degree family members. Methods: Patients were seen at the Saskatchewan Movement Disorders Program (SMDP). All autopsied cases with known clinicopathological diagnosis of a movement disorder between 1970 and 2019 were reviewed. Only those with a first-degree family member – parent, child, and/or sibling - with a movement disorder were included. Results: 671 cases with movement disorders seen at SMDP have been autopsied. 29 cases including probands were found and thirteen first-degree families were identified; eight families were multiple (2 or more) siblings and five families included one parent/one child. In seven families, the diagnosis was concordant. Conclusions: Movement disorders in first degree relatives with autopsied verified diagnosis are dissimilar in nearly half the cases. Such small intensively studied groups offer unique research opportunities.

Non-lesional treatment options for tremor in idiopathic Parkinson syndrome: a protocol for a systematic literature review

IntroductionIdiopathic Parkinson syndrome (iPS) is one of the most common neurodegenerative disorders characterised by the triad of bradykinesia, rigidity and tremor. Tremor at rest predominantly at one side is often perceived by patients as severely disabling and yet ranges among the most difficult symptoms to treat. In medically refractory cases, lesional approaches have proven to be effective alternatives. However, to date, there is no comprehensive analysis of non-surgical therapies to manage iPS-patients’ tremor. We therefore present a detailed study protocol for a systematic literature review assessing efficacy/effectiveness and safety of non-lesional treatments for tremor in iPS.Methods and analysisWe will search three electronic databases (MEDLINE, EMBASE and PsycINFO) using a combination of title/abstract keywords. Additionally, hand-searched reference and citation lists of key reviews identified through the search strategy will be screened. Eligible studies should investigate the efficacy/effectiveness and safety of therapeutic options for tremor in iPS excluding lesional interventions. Publications will be independently assessed for inclusion criteria by two investigators and study information summarised using a standardised template including quality assessment according to the QualSyst tool. We will provide a narrative synthesis of results and conduct a meta-analysis whenever possible.Ethics and disseminationWe commit to present contemporary evidence on the efficacy/effectiveness and safety of non-lesional interventions for tremor in iPS in a future publication. We aim to compile rich data of published studies to inform healthcare professionals in order to ultimately improve patient outcomes.PROSPERO registration numberCRD42020202911).

Bewohner*innen mit Parkinson-Syndrom in der stationären Altenhilfe

Zusammenfassung Hintergrund Parkinson-Syndrome führen im Krankheitsverlauf zur Pflegebedürftigkeit bei den Betroffenen. Zur Prävalenz der Bewohner*innen mit einem Parkinson-Syndrom in Pflegeeinrichtungen, zu ihrer Versorgungssituation und zur vorhandenen Expertise der Pflegefachpersonen in den Einrichtungen ist wenig bekannt. Ziel der Arbeit Die vorliegende Studie untersucht die Prävalenzrate der Bewohner*innen mit einem Parkinson-Syndrom in stationären Pflegeeinrichtungen in Deutschland. Die Arbeit exploriert die Zusammenarbeit verschiedener Akteure, deren Koordination sowie Information und Wissen des Pflegepersonals. Ziel ist es, einen möglichen Bedarf an spezialisierter Pflege in Pflegeeinrichtungen aufzuzeigen. Methode Die schriftliche Querschnittsbefragung der Wohnbereichsleitungen von 500 zufällig ausgewählten Pflegeeinrichtungen in Deutschland erfolgte von Januar bis Juni 2020. Der eingesetzte Fragebogen wurde vorab literaturbasiert entwickelt. Die Daten wurden deskriptiv analysiert. Ergebnisse Aus 57 Einrichtungen wurden Fragebogen von 85 Wohnbereichen analysiert (Rücklaufquote 11,4 %). Die Prävalenzrate von Bewohner*innen mit einem Parkinson-Syndrom in der stationären Altenhilfe beträgt 13,9 %. Mehr als die Hälfte haben zusätzlich eine Demenzdiagnose (52,8 %). In 26 % der Fälle erfolgen Krankenhausaufenthalte infolge von Sturzereignissen. Eine eindeutige Koordination der Versorgung durch ärztliche oder pflegerische Spezialisten gibt es nicht. Diskussion Bewohner*innen mit einem Parkinson-Syndrom in der stationären Altenhilfe sind häufig, und sie zeigen komplexe motorische und nichtmotorische Symptome – auch durch die Komorbidität Demenz. Die Häufigkeit von Sturzereignissen mit Krankenhausaufenthalten und die geringe Anzahl Parkinson-Syndrom-spezifischer Hilfsmittel zeigen, dass das Wissen der Pflege vor Ort gesteigert werden kann. Eine zentrale Koordination und Unterstützung hierzu sollten in der stationären Langzeitpflege etabliert werden.

Comparison of 6-[18F]FDOPA PET with Nigrosome 1 detection in patients with parkinsonism

Background The functional 6-[18F]FDOPA positron emission tomography (PET) can be a helpful tool in differentiating parkinsonism with dopaminergic deficiency from clinically similar differential diagnoses. Furthermore, in T2*/susceptibility-weighted imaging (SWI) magnetic resonance imaging (MRI) sequences the structural integrity of the Nigrosome 1 (N1) can be assessed by checking the presence of the swallow tail sign (STS). We therefore retrospectively compared the performance of the 6-[18F]FDOPA PET with the N1 detection in patients suspected with parkinsonian diseases. Forty-three consecutive patients (m: 23, f: 20, mean age: 63 ± 12 years) were included in the study. They underwent clinically indicated 6-[18F]FDOPA PET/MRI scans as part of their neurological evaluation of uncertain parkinsonian syndromes. Visual and semi-quantitative PET imaging results were statistically compared with visual N1 assessment on 3 T SWI. As the gold standard, we defined the clinical diagnosis at the last follow-up, which included idiopathic Parkinson syndrome (IPS; n = 18), atypical parkinsonian syndromes (APS; n = 9) and other neurological diseases without dopaminergic deficit (n = 16). Results Thirty-five of 43 patients (81%, Kappa 0.611) had corresponding results in 6-[18F]FDOPA PET and SWI. Seven of the remaining 8 patients were correctly diagnosed by 6-[18F]FDOPA PET alone. Sensitivity, specificity and accuracy for 6-[18F]FDOPA and N1 imaging were 93%, 94%, 93% and 82%, 75%, 79%, respectively. Conclusions 6-[18F]FDOPA PET and Nigrosome 1 evaluation had an overall good intermodality agreement. Diagnostic agreement was very good in cases of clinically suspected idiopathic Parkinson syndrome and fair in atypical parkinsonian syndromes, but poor in patients with non-parkinsonian disorders. 6-[18F]FDOPA PET showed higher sensitivity, specificity and accuracy in discriminating parkinsonian syndromes from non-parkinsonian disorders than the N1 evaluation. In summary, the additional benefit of N1 assessment in patients with APS or parkinsonism without dopaminergic deficit needs to be proven by prospective studies.